Panther_Function	Panther_Process	Species	Source	Search_Key	Transcript	ILMN_Gene	Source_Reference_ID	RefSeq_ID	Unigene_ID	Entrez_Gene_ID	GI	Accession	Symbol	Protein_Product	Probe_Id	Array_Address_Id	Probe_Type	Probe_Start	Probe_Sequence	Chromosome	Probe_Chr_Orientation	Probe_Coordinates	Cytoband	Definition	Ontology_Component	Ontology_Process	Ontology_Function	Synonyms	Obsolete_Probe_Id
Transcription factor -> Homeobox transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_13666	ILMN_13666	PHTF2	NM_020432.2	NM_020432.2		57157	40254932	NM_020432.2	PHTF2	NP_065165.2	ILMN_2161508	940066	S	3100	GAAACACTGGGCTGTTTGCACAGCTCCAACTGTGCATGCTCAAAATGTGC	7	+	77422797-77422846	7q11.23g-q21.11a	"Homo sapiens putative homeodomain transcription factor 2 (PHTF2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 11256614] [evidence IDA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]	DKFZP564F013; MGC86999; FLJ33324	DKFZP564F013; FLJ33324; MGC86999
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5006	ILMN_5006	TRIM44	NM_017583.3	NM_017583.3		54765	29029528	NM_017583.3	TRIM44	NP_060053.2	ILMN_1796063	1300239	S	2901	CCTGCCTGTCTGCCTGTGACCTGTGTACGTATTACAGGCTTTAGGACCAG	11	+	35786070-35786119	11p13a	"Homo sapiens tripartite motif-containing 44 (TRIM44), mRNA."				MGC3490; MC7; HSA249128; DIPB	MGC3490; MC7; HSA249128; DIPB
Transferase -> Acyltransferase	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism	Homo sapiens	RefSeq	ILMN_7652	ILMN_7652	DGAT2L3	NM_001013579.1	NM_001013579.1		158833	61888901	NM_001013579.1	DGAT2L3	NP_001013597.1	ILMN_1668162	6020725	S	782	GTCAAGGCTCCACTGGGCTCCTGCCATACTCCAGGCCTATTGTCACTGTG	X	+	69376459-69376508	Xq13.1b	"Homo sapiens diacylglycerol O-acyltransferase 2-like 3 (DGAT2L3), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 8610] [evidence IEA]"	"Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: a long-chain-alcohol + acyl-CoA = a long-chain ester + CoA [goid 47196] [evidence IEA]"	DGA2; AWAT1	AWAT1; DGA2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18382	ILMN_18382	C15ORF39	NM_015492.4	NM_015492.4		56905	153251858	NM_015492.4	C15orf39	NP_056307.2	ILMN_1793729	870110	S	3585	CTTGCCTAGAGAACACACATGGGCTTTGGAGCCCGACAGACCTGGGCTTG	15	+	73290721-73290770	15q24.2a	"Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA."				DKFZP434H132; FLJ46337; MGC117209	DKFZP434H132; FLJ46337; MGC117209
Cell adhesion molecule -> Cadherin	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion	Homo sapiens	RefSeq	ILMN_22537	ILMN_22537	PCDHGA9	NM_018921.2	NM_018921.2		56107	14270485	NM_018921.2	PCDHGA9	NP_061744.1	ILMN_2296644	7510243	I	2759	ATGGCAACAAGAAGAAGTCGGGCAAGAAGGAGAAGAAGTAACATGGAGGC	5	+	140870884-140870924:140870925-140870933	5q31.3c	"Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	PCDH-GAMMA-A9	PCDH-GAMMA-A9
Cell adhesion molecule -> Cadherin	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion	Homo sapiens	RefSeq	ILMN_12044	ILMN_22537	PCDHGA9	NM_018921.2	NM_018921.2		56107	14270485	NM_018921.2	PCDHGA9	NP_061744.1	ILMN_1711283	4180259	A	2220	TGTGGGTGTAGATGGGGTTCGAGCTTTCCTACAGACCTATTCTCAGGAGT	5	+	140764923-140764972	5q31.3c	"Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	PCDH-GAMMA-A9	PCDH-GAMMA-A9
Signaling molecule -> Cytokine	Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_1387	ILMN_1387	STAMBPL1	NM_020799.2	NM_020799.2		57559	52694663	NM_020799.2	STAMBPL1	NP_065850.1	ILMN_1682799	7150059	S	1746	TGTAAGCACCGTCAACATCAGACACCTACTCATGGACATGTGGTTGCCGG	10	+	90672973-90673022	10q23.31b	"Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA."		"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 8237] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	KIAA1373; bA399O19.2; FLJ31524; AMSH-LP; AMSH-FP; ALMalpha	bA399O19.2; AMSH-LP; ALMalpha; KIAA1373; FLJ31524; AMSH-FP
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1785	ILMN_1785	STH	NM_001007532.1	NM_001007532.1		246744	56090268	NM_001007532.1	STH	NP_001007533.1	ILMN_1665311	5340180	S	97	CAGCCTCTGTGTGAGTGGATGATTCAGGTTGCCAGAGACAGAACCCTCAG	17	+	41432579-41432628	17q21.31e	"Homo sapiens saitohin (STH), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"			MGC163193; MGC163191	MGC163193; MGC163191
Transferase -> Glycosyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism	Homo sapiens	RefSeq	ILMN_138375	ILMN_179411	UGT2B7	XM_001128725.1	XM_001128725.1		7364	113416110	XM_001128725.1	UGT2B7	XP_001128725.1	ILMN_1679194	1190064	A	1441	TAAACACCTTCGGGTTGCAGCCCACGACCTCACCTGGTTCCAGTACCACT				4q13.2c	"PREDICTED: Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 2159463] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 2159463] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside [goid 15020] [evidence IEA]
Transferase -> Glycosyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism	Homo sapiens	RefSeq	ILMN_22479	ILMN_179411	UGT2B7	XM_001128725.1	XM_001128725.1		7364	113416110	XM_001128725.1	UGT2B7	XP_001128725.1	ILMN_1755897	5420450	A	1437	GAGCTAAACACCTTCGGGTTGCAGCCCACGACCTCACCTGGTTCCAGTAC				4q13.2c	"PREDICTED: Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 2159463] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 2159463] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside [goid 15020] [evidence IEA]
Nucleic acid binding -> Ribosomal protein	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_30266	ILMN_30266	RPS19	NM_001022.3	NM_001022.3		6223	48255921	NM_001022.3	RPS19	NP_001013.1	ILMN_1784717	1470086	S	739	CTGACACCTCAGGGACAAAGAGATCTGGACAGAATCGCCGGACAGGTGGC	19	+	47065619-47065663:47067259-47067263	19q13.2c	"Homo sapiens ribosomal protein S19 (RPS19), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 16289379] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12588972] [evidence EXP]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]; The small subunit of the ribosome that is found in the cytosol of the cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 22627] [pmid 15883184] [evidence IDA]"	"The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [pmid 15189156] [evidence EXP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus [goid 9991] [pmid 16289379] [evidence TAS]; The directed movement of substances that are gaseous in normal living conditions into, out of, within or between cells [goid 15669] [pmid 9988267] [evidence IMP]; The process by which a myeloid precursor cell acquires specializes features of an erythrocyte [goid 30218] [pmid 16289379] [evidence IMP]; The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome [goid 48856] [pmid 9988267] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the movement of a cell [goid 51272] [pmid 16289379] [evidence TAS]"	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9988267] [evidence TAS]; The action of a molecule that contributes to the structural integrity of the ribosome [goid 3735] [pmid 15883184] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	DBA	DBA
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4500	ILMN_4500	FBXO9	NM_012347.4	NM_012347.4		26268	117190362	NM_012347.4	FBXO9	NP_036479.1	ILMN_1667120	3610056	I	33	GGGCAACTGGTGTGTTTATATGCCTGACATTATTTGGGTTTTCCCCCCTC	6	+	53043762-53043780:53043781-53043811	6p12.1d	"Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA."	A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531037] [evidence NAS]; A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531035] [evidence NAS]	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 10531035] [evidence NAS]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 10531037] [evidence NAS]"	Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 10531035] [evidence NAS]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 10531037] [evidence NAS]	dJ341E18.2; KIAA0936; FBX9; VCIA1; DKFZp434C0118; NY-REN-57	dJ341E18.2; DKFZp434C0118; NY-REN-57; KIAA0936; FBX9; VCIA1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4617	ILMN_4500	FBXO9	NM_012347.4	NM_012347.4		26268	117190362	NM_012347.4	FBXO9	NP_036479.1	ILMN_1702928	6980577	A	2992	AGGTGAAATGTGCATACAGAAGGAAGAGAGTTGGCCAGGTGTGGTGACTC	6	+	53072185-53072234	6p12.1d	"Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA."	A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531037] [evidence NAS]; A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531035] [evidence NAS]	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 10531035] [evidence NAS]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 10531037] [evidence NAS]"	Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 10531035] [evidence NAS]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 10531037] [evidence NAS]	dJ341E18.2; KIAA0936; FBX9; VCIA1; DKFZp434C0118; NY-REN-57	dJ341E18.2; DKFZp434C0118; NY-REN-57; KIAA0936; FBX9; VCIA1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18324	ILMN_18324	SCYL1BP1	NM_152281.1	NM_152281.1		92344	22748638	NM_152281.1	SCYL1BP1	NP_689494.1	ILMN_2121316	1400546	S	1757	CCAAACAACTTAAACCAGCATCACTTTTGTCTTCAATTTGCCTTCCAGTG	1	+	168788779-168788828	1q24.2c	"Homo sapiens SCY1-like 1 binding protein 1 (SCYL1BP1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence ISS]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]	NTKL-BP1; MGC70512; MGC51263; NTKLBP1; RP11-545I10.1; FLJ11752	NTKL-BP1; MGC51263; NTKLBP1; FLJ11752; MGC70512; RP11-545I10.1
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Amino acid metabolism -> Amino acid transport;Transport -> Amino acid transport;Signal transduction;Cell adhesion;Intracellular protein traffic -> Endocytosis -> Phagocytosis;Apoptosis;Cell cycle;Cell structure and motility	Homo sapiens	RefSeq	ILMN_35121	ILMN_45042	RGNEF	XM_932949.2	XM_932949.2		64283	113416641	XM_932949.2	RGNEF	XP_938042.2	ILMN_1807467	4230026	A	1603	GTTCTAGCCTTGATGCCTTGGACGCCGACAGTGAAGGGGAAGGGCATTCT	5	+	73172341-73172341:73177849-73177897	5q13.2c	"PREDICTED: Homo sapiens Rho-guanine nucleotide exchange factor, transcript variant 2 (RGNEF), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]"	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with diacylglycerol, a diester of glycerol and two fatty acids [goid 19992] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]"
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Amino acid metabolism -> Amino acid transport;Transport -> Amino acid transport;Signal transduction;Cell adhesion;Intracellular protein traffic -> Endocytosis -> Phagocytosis;Apoptosis;Cell cycle;Cell structure and motility	Homo sapiens	RefSeq	ILMN_31495	ILMN_45042	RGNEF	XM_932949.2	XM_932949.2		64283	113416641	XM_932949.2	RGNEF	XP_938042.2	ILMN_1652609	650102	A	4208	CGCCTTGACCATTCAGGACAGCCACATTGAGATCCACAGGCTGGTTCTCC	5	+	73240995-73241044	5q13.2c	"PREDICTED: Homo sapiens Rho-guanine nucleotide exchange factor, transcript variant 2 (RGNEF), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]"	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with diacylglycerol, a diester of glycerol and two fatty acids [goid 19992] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16309	ILMN_16309	TMEM136	NM_174926.1	NM_174926.1		219902	28376667	NM_174926.1	TMEM136	NP_777586.1	ILMN_1815346	1110228	S	694	CCATGCTTGGAGAAGCAGGCGGAGTGAGGAACGGCAGCTGAAACACAACG	11	+	119706365-119706414	11q23.3g	"Homo sapiens transmembrane protein 136 (TMEM136), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			MGC17839	MGC17839
Select regulatory molecule -> Kinase modulator	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Immunity and defense -> Stress response	Homo sapiens	RefSeq	ILMN_3497	ILMN_3497	PRKAG1	NM_002733.3	NM_002733.3		5571	47132573	NM_002733.3	PRKAG1	NP_002724.1	ILMN_1751984	6860092	A	1283	GCCTAGCCAGTTCTAGCCCCTGTCCTCTTAGATATATCCCCCTTTCTGGG	12	-	47682681-47682730	12q13.12a	"Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The process of introducing a phosphate group on to a protein [goid 6468] [pmid 2342480] [evidence TAS]; The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 6633] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 2342480] [evidence TAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 9598317] [evidence TAS]"	Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; dependent on the presence of cAMP [goid 4691] [pmid 9598317] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18403135] [evidence IPI]	AMPKG; MGC8666	AMPKG; MGC8666
		Homo sapiens	RefSeq	ILMN_19720	ILMN_19720	LOC440926	NR_002315.1	NR_002315.1		440926	66472905	NR_002315.1	LOC440926		ILMN_2402936	2360136	A	671	AGAAATCAGGTATTGGCAGTTTTTCCATTTTCATTTGTGTGTGAATTTTT	2	+	175293444-175293493	2q31.1g	"Homo sapiens H3 histone, family 3A pseudogene (LOC440926), non-coding RNA."
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12093	ILMN_12093	C1ORF103	NM_001006945.1	NM_001006945.1		55791	55743125	NM_001006945.1	C1orf103	NP_001006946.1	ILMN_2385662	2100176	A	981	GCTGAGAGAGAAAGAAGCAGCTCTTGAAGAAATGCGTAAGAAGATGCACC	1	-	111292111-111292160	1p13.3a	"Homo sapiens chromosome 1 open reading frame 103 (C1orf103), transcript variant 2, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15383276] [evidence IPI]	RP11-96K19.1; RIF1; FLJ11269	RIF1; FLJ11269; RP11-96K19.1
Chaperone -> Chaperonin	Protein metabolism and modification -> Protein folding;Protein metabolism and modification -> Protein complex assembly	Homo sapiens	RefSeq	ILMN_180673	ILMN_180673	TCP1	NM_030752.2	NM_030752.2		6950	57863256	NM_030752.2	TCP1	NP_110379.2	ILMN_2313434	4230136	A	2260	GCCCAAGGCTATAGCCCCTCCTTCAATATTGACCTAACGGGGGAGAAAAG	6	-	160119663-160119712	6q25.3f	"Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA."				CCT1; D6S230E; CCTa; TCP-1-alpha; CCT-alpha	TCP-1-alpha; CCT1; D6S230E; CCTa; CCT-alpha
Oxidoreductase -> Reductase	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14570	ILMN_16355	AIFM3	NM_001018060.1	NM_001018060.1		150209	65787453	NM_001018060.1	AIFM3	NP_001018070.1	ILMN_1704173	4260551	A	1982	AGCTCACATGCAGTAGACTTGGGCAGGCAAAGGGGGCACCAAGGGCACAG	22	+	19665320-19665320:19665321-19665369	22q11.21e	"Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15764604] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 15764604] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [pmid 15764604] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 15764604] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15764604] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15764604] [evidence IDA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 15764604] [evidence IDA]; Upregulation of the activity of a caspase, any of a group of cysteine proteases involved in apoptosis, mediated by cytochrome c [goid 8635] [pmid 15764604] [evidence IDA]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]; Any process that maintains the redox environment of a cell or compartment within a cell [goid 45454] [evidence IEA]; The process in which the membrane potential of the mitochondria changes in the depolarizing direction from the resting potential, from negative to positive [goid 51882] [pmid 15764604] [evidence IDA]"	"Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Increases the rate of proteolysis catalyzed by a caspase [goid 8656] [pmid 15764604] [evidence IDA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]; Interacting selectively with a 2 iron, 2 sulfur (2Fe-2S) cluster; this cluster consists of two iron atoms, with two inorganic sulfur atoms found between the irons and acting as bridging ligands [goid 51537] [evidence IEA]"	FLJ30473; AIFL	FLJ30473; AIFL
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation	Homo sapiens	RefSeq	ILMN_10780	ILMN_10780	STK32A	NM_145001.2	NM_145001.2		202374	142363173	NM_145001.2	STK32A	NP_659438.1	ILMN_1756612	6350470	S	580	GGTCATGGCCCTGGACTACCTGCAGAACCAGCGCATCATTCACAGGGATA	5	+	146683783-146683827:146702762-146702766	5q32e	"Homo sapiens serine/threonine kinase 32A (STK32A), mRNA."		The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	YANK1; MGC22688	MGC22688; YANK1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3919	ILMN_3919	TBC1D19	NM_018317.1	NM_018317.1		55296	8922855	NM_018317.1	TBC1D19	NP_060787.1	ILMN_1692844	20475	S	1557	GCCGTGTTTGCTTTCCGAGCAGTGAACCTGATGGAGGTGACATCACTGGC	4	+	26364551-26364600	4p15.2b	"Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	Any process that modulates the activity of a GTPase of the Rab family [goid 32313] [evidence IEA]	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]; Increases the rate of GTP hydrolysis by a GTPase of the Rab family [goid 5097] [evidence IEA]"	FLJ11082	FLJ11082
Oxidoreductase -> Hydroxylase	Other metabolism	Homo sapiens	RefSeq	ILMN_27084	ILMN_27084	ISOC2	NM_024710.1	NM_024710.1		79763	13376006	NM_024710.1	ISOC2	NP_078986.1	ILMN_1769158	6650692	S	958	GCTGCTCCCGGAAATGCAAATGAGACTCCTGGAAACTGGGTGGGAATTGG	19	-	60656282-60656331	19q13.42c	"Homo sapiens isochorismatase domain containing 2 (ISOC2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 17658461] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17658461] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation [goid 31648] [pmid 17658461] [evidence IMP]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]"
Receptor -> Other receptor;Membrane traffic protein -> Membrane traffic regulatory protein	Intracellular protein traffic -> Peroxisome transport;Protein targeting and localization -> Protein targeting;Transport	Homo sapiens	RefSeq	ILMN_29393	ILMN_29393	PEX5	NM_000319.3	NM_000319.3		5830	37059745	NM_000319.3	PEX5	NP_000310.2	ILMN_1660232	6650189	S	2986	GGGGAGATACACTAACCCCCAGAAATGACTGCTAAGCCTCTTGCCTTGTC	12	+	7255160-7255209	12p13.31c	"Homo sapiens peroxisomal biogenesis factor 5 (PEX5), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 7719337] [evidence IDA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [evidence IEA]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; The material contained within the membrane of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase [goid 5782] [pmid 11336669] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11336669] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 7719337] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The chemical reactions and pathways involving fatty acids with a chain length of C18 or greater [goid 38] [evidence IEA]; The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; The process of directing proteins towards the peroxisome using signals contained within the protein [goid 6625] [pmid 9668159] [evidence IMP]; The metabolic oxidation of a long-chain fatty acid by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A [goid 6635] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the mitochondrial membrane, the lipid bilayer surrounding a mitochondrion [goid 7006] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the endoplasmic reticulum [goid 7029] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The process by which proteins are moved across the peroxisomal membrane into the matrix. It is likely that the peroxisome targeting sequence receptor remains associated with cargo proteins during translocation [goid 16561] [pmid 7719337] [evidence IDA]; The process by which proteins are moved across the peroxisomal membrane into the matrix. It is likely that the peroxisome targeting sequence receptor remains associated with cargo proteins during translocation [goid 16561] [pmid 11336669] [evidence IDA]; The orderly movement of cells from one site to another in the cerebral cortex [goid 21795] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex [goid 21895] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of growth of an organism to reach its usual body size [goid 40018] [evidence IEA]; The chemical reactions and pathways involving lipids, as carried out by individual cells [goid 44255] [evidence IEA]; The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate [goid 48468] [evidence IEA]; Any process pertaining to the functions of the nervous and muscular systems of an organism [goid 50905] [evidence IEA]; The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits [goid 51262] [pmid 12456682] [evidence IDA]"	"Interacting selectively with a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L [goid 5052] [pmid 12456682] [evidence IDA]; Interacting selectively with a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L [goid 5052] [pmid 9668159] [evidence IMP]; Interacting selectively with a type 1 peroxisome targeting signal, a tripeptide with the consensus sequence (S/A/C)-(K/R/H)-L [goid 5052] [pmid 7719337] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10837480] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9653144] [evidence IPI]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 10562279] [evidence IPI]"	PTS1R; PXR1	PTS1R; PXR1
Nucleic acid binding -> Replication origin binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication	Homo sapiens	RefSeq	ILMN_21836	ILMN_21836	ORC1L	NM_004153.2	NM_004153.2		4998	31795543	NM_004153.2	ORC1L	NP_004144.2	ILMN_1727459	6660333	S	2674	ACCATGGCCGTGTGTTCTCACCTGGGCTCCTGTCGCCTCCTGCTTGTGGA	1	-	52611522-52611571	1p32.3d	"Homo sapiens origin recognition complex, subunit 1-like (yeast) (ORC1L), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7502077] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15707391] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15684404] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15226314] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11095689] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10436018] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11125146] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11931757] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12045100] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11931757] [evidence EXP]"	"The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]; The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [pmid 12791985] [evidence EXP]; The process by which DNA replication is started; this involves the separation of a stretch of the DNA double helix, the recruitment of DNA polymerases and the initiation of polymerase action [goid 6270] [pmid 7502077] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 7502077] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15232106] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11931757] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15232106] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate [goid 17111] [evidence IEA]"	HSORC1; ORC1; PARC1	HSORC1; ORC1; PARC1
Miscellaneous function -> Structural protein	Developmental processes -> Ectoderm development -> Neurogenesis;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_22305	ILMN_22305	ABLIM1	NM_002313.5	NM_002313.5		3983	51173710	NM_002313.5	ABLIM1	NP_002304.3	ILMN_1696682	6130162	I	184	GCCAGGGGCTCGAACAGAAAGAGACTGATTGTTGAGGACCGGAGGGTCTC	10	-	116407815-116407864	10q25.3a	"Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 9245787] [evidence TAS]"	"A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9245787] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 9245787] [evidence TAS]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 9245787] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16189514] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	LIMATIN; LIMAB1; KIAA0059; FLJ14564; MGC1224; ABLIM; DKFZp781D0148	KIAA0059; FLJ14564; MGC1224; LIMATIN; LIMAB1; ABLIM; DKFZp781D0148
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Signal transduction -> Cell communication;Intracellular protein traffic;Transport	Homo sapiens	RefSeq	ILMN_138659	ILMN_39508	SNX13	NM_015132.3	NM_015132.3		23161	87196349	NM_015132.3	SNX13	NP_055947.1	ILMN_1797082	1500307	S	3307	GCAACATTGAGAGAAAACTGCCCCCATCTCAAGCAAGAATGGCGTTGGTT	7	-	17799924-17799973	7p21.1b	"Homo sapiens sorting nexin 13 (SNX13), mRNA."		"Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of signal transduction [goid 9968] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]"	Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any inositol-containing glycerophospholipid [goid 35091] [evidence IEA]	KIAA0713; RGS-PX1	RGS-PX1; KIAA0713
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15101	ILMN_15101	NSMCE2	NM_173685.1	NM_173685.1		286053	27734760	NM_173685.1	NSMCE2	NP_775956.1	ILMN_1693210	2480719	S	987	TGCAGGGACACCAGCAGCCTACCTCCTACCCCAGCTGTCTGTTGAGAGCA	8	+	126448336-126448385	8q24.13d-q24.13e	"Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [evidence IEA]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	FLJ32440; MMS21; NSE2; C8orf36	FLJ32440; MMS21; NSE2; C8orf36
Transferase -> Other transferase	Immunity and defense -> Detoxification	Homo sapiens	RefSeq	ILMN_4003	ILMN_4003	GSTM4	NM_147148.1	NM_147148.1		2948	23065556	NM_147148.1	GSTM4	NP_671489.1	ILMN_1651800	6900592	I	1095	GACCTCTCTGACTGGGACATCCATCTCTGCCTATCCTGGGACCTCCACAC	1	+	110009374-110009423	1p13.3b	"Homo sapiens glutathione S-transferase M4 (GSTM4), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of the reaction: R-X + glutathione = H-X + R-S-glutathione. R may be an aliphatic, aromatic or heterocyclic group; X may be a sulfate, nitrile or halide group [goid 4364] [evidence IEA]; Catalysis of the reaction: R-X + glutathione = H-X + R-S-glutathione. R may be an aliphatic, aromatic or heterocyclic group; X may be a sulfate, nitrile or halide group [goid 4364] [evidence IEA]; Catalysis of the reaction: R-X + glutathione = H-X + R-S-glutathione. R may be an aliphatic, aromatic or heterocyclic group; X may be a sulfate, nitrile or halide group [goid 4364] [pmid 8349586] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	GSTM4-4; MGC131945; GTM4; MGC9247	GTM4; GSTM4-4; MGC131945; MGC9247
Molecular function unclassified	Cell cycle -> Cell cycle control	Homo sapiens	RefSeq	ILMN_25867	ILMN_25867	GAS2	NM_177553.1	NM_177553.1		2620	29540558	NM_177553.1	GAS2	NP_808221.1	ILMN_1652852	7650605	I	62	GTGTGGACACTGATTAACTGCAGCTGGGGTCTGATTTGCCCAGCCTGTCT	11	+	22646291-22646340	11p14.3d-p14.3c	"Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane [goid 5884] [pmid 1607387] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 9521882] [evidence TAS]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; Any process that modulates the surface configuration of a cell [goid 8360] [evidence IEA]"		MGC32610	MGC32610
Membrane traffic protein -> Membrane traffic regulatory protein	Intracellular protein traffic	Homo sapiens	RefSeq	ILMN_10233	ILMN_10233	APBA1	NM_001163.2	NM_001163.2		320	22035547	NM_001163.2	APBA1	NP_001154.2	ILMN_2182656	430112	S	3576	GAAGATTAGGCACACAGATCCCCTGGAAACCCACCTCTCTGGAAGGCCCC	9	-	71235174-71235223	9q21.11b	"Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) (APBA1), mRNA."	"Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [pmid 9753324] [evidence TAS]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9753324] [evidence TAS]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9614075] [evidence TAS]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [pmid 9614075] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9753324] [evidence TAS]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 9753324] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 9753324] [evidence TAS]; The directed movement of organelles or molecules along microtubules in nerve cell axons [goid 8088] [pmid 9822620] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8887653] [evidence IPI]	X11ALPHA; D9S411E; X11A; X11; MINT1	D9S411E; X11A; X11; X11ALPHA; MINT1
Nucleic acid binding -> mRNA processing factor -> mRNA polyadenylation factor	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA polyadenylation	Homo sapiens	RefSeq	ILMN_23788	ILMN_23788	PAPOLG	NM_022894.2	NM_022894.2		64895	16306567	NM_022894.2	PAPOLG	NP_075045.2	ILMN_1786275	7380274	S	4045	GAGAGCCGTATCCTCCAGGTCCCACTCCTGTTCATTGCCCCTTAGGTCTC	2	+	60879402-60879451	2p16.1a	"Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The enzymatic addition of a sequence of adenylyl residues at the 3' end of an RNA molecule [goid 43631] [evidence IEA]	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the template-independent extension of the 3'- end of an RNA or DNA strand by addition of one adenosine molecule at a time. Cannot initiate a chain 'de novo'. The primer, depending on the source of the enzyme, may be an RNA or DNA fragment, or oligo(A) bearing a 3'-OH terminal group [goid 4652] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	MGC133307; FLJ11805; FLJ14187; MGC133308; FLJ12972; FLJ13482	FLJ14187; MGC133307; FLJ11805; MGC133308; FLJ12972; FLJ13482
Receptor;Transferase	Developmental processes -> Gametogenesis -> Spermatogenesis and motility	Homo sapiens	RefSeq	ILMN_16932	ILMN_16932	TCP10L	NM_144659.4	NM_144659.4		140290	144925924	NM_144659.4	TCP10L	NP_653260.1	ILMN_1754656	3460731	S	702	CAGAAGAGCAACACCTACTGGAAGGCCAACTCCCTGTGCAGAGAGACGGG	21	-	32870965-32871014	21q22.11b	"Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA."				PRED77; TCP10A-2	PRED77; TCP10A-2
Nucleic acid binding -> Translation factor -> Translation elongation factor	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_137136	ILMN_137136	EEF1B2	NM_001959.2	NM_001959.2		1933	16519564	NM_001959.2	EEF1B2	NP_001950.1	ILMN_1694587	6330373	A	356	GTGTCCAGCCCACCGCCTGCCGACTTGTGTCATGCCCTACGTTGGTATAA	2	+	206733597-206733646	2q33.3b	"Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 1, mRNA."	"That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10368288] [evidence EXP]; A multisubunit nucleotide exchange complex that binds GTP and aminoacyl-tRNAs, and catalyzes their codon-dependent placement at the A-site of the ribosome. In humans, the complex is composed of four subunits, alpha, beta, delta and gamma [goid 5853] [pmid 1886777] [evidence NAS]"	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [pmid 1886777] [evidence NAS]; The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [pmid 15189156] [evidence EXP]	Functions in chain elongation during polypeptide synthesis at the ribosome [goid 3746] [pmid 1886777] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16169070] [evidence IPI]	EEF1B1; EF1B; EEF1B	EEF1B; EF1B; EEF1B1
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Cell cycle;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_138802	ILMN_46158	TUBGCP2	NM_006659.2	NM_006659.2		10844	89363032	NM_006659.2	TUBGCP2	NP_006650.1	ILMN_1775074	2630356	S	2896	GACTGTGAGCACGGCATGGCCAGCGTCATCTCCAGGCTTGACTTCAATGG	10	-	134943380-134943395:134944767-134944800	10q26.3f	"Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA."	"Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules [goid 922] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [evidence IEA]; Any microtubule in the cytoplasm of a cell [goid 5881] [pmid 9566967] [evidence TAS]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9566967] [evidence TAS]; The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates, some of which go on to support formation of a complete microtubule. Microtubule nucleation usually occurs from a specific site within a cell [goid 7020] [pmid 9566967] [evidence TAS]"		Spc97p; GCP2; SPBC97; MGC138162	Spc97p; GCP2; SPBC97; MGC138162
Receptor -> Cytokine receptor -> Tumor necrosis factor receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Immunity and defense -> T-cell mediated immunity;Immunity and defense -> B-cell- and antibody-mediated immunity	Homo sapiens	RefSeq	ILMN_22820	ILMN_22820	CD40	NM_001250.4	NM_001250.4		958	91105420	NM_001250.4	CD40	NP_001241.1	ILMN_1779257	6420520	A	843	CATGGATGCCAACCGGTCACCCAGGAGGATGGCAAAGAGAGTCGCATCTC	20	+	44191018-44191067	20q13.12b	"Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16893496] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10748139] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10748139] [evidence TAS]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 10748139] [evidence TAS]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 2475341] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 9468137] [evidence NAS]; The expansion of a B cell population by cell division. Follows B cell activation [goid 42100] [pmid 8605945] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of an I-kappaB kinase/NF-kappaB induced cascade [goid 43123] [pmid 12761501] [evidence IEP]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [evidence IEA]; Interacting selectively with any enzyme [goid 19899] [pmid 12223522] [evidence IPI]"	MGC9013; Bp50; TNFRSF5; CDW40; p50	TNFRSF5; p50; MGC9013; Bp50; CDW40
		Homo sapiens	RefSeq	ILMN_34957	ILMN_307790	EPHA6	NM_173655.2	NM_173655.2		285220	145312263	NM_173655.2	EPHA6	NP_775926.1	ILMN_1657349	7560241	A	246	GGTCTTAAGCCAGCCACCAAATATGTATTTCACATCCGAGTGAGAACTGC	3	+	98650162-98650211	3q11.2c	"Homo sapiens EPH receptor A6 (EPHA6), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an ephrin to initiate a change in cell activity [goid 5003] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	PRO57066; EPA6; FLJ35246; DKFZp434C1418	PRO57066; DKFZp434C1418; EPA6; FLJ35246
Receptor;Signaling molecule -> Membrane-bound signaling molecule;Transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction -> Cell communication;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_21363	ILMN_21363	DLL3	NM_016941.2	NM_016941.2		10683	45243550	NM_016941.2	DLL3	NP_058637.1	ILMN_1736096	4210382	A	2143	TCCGCACCTGGAGTCAGAGCGTGGATTTTTGTATTTGCTCGGTGGTGCCC	19	+	44690751-44690800	19q13.2a	"Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10742114] [evidence NAS]"	"The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 10742114] [evidence IMP]; The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell [goid 7219] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	"Interacting selectively with the Notch (N) protein, a surface receptor [goid 5112] [pmid 10742114] [evidence NAS]"	SCDO1	SCDO1
Receptor;Signaling molecule -> Membrane-bound signaling molecule;Transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction -> Cell communication;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_21363	ILMN_21363	DLL3	NM_016941.2	NM_016941.2		10683	45243550	NM_016941.2	DLL3	NP_058637.1	ILMN_1753287	3520543	I	2010	GAGGAGGTCACGATGCCGACTCCGCCAGAGCTTTTCCACTGATTGTACTC	19	+	44690618-44690667	19q13.2a	"Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10742114] [evidence NAS]"	"The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 10742114] [evidence IMP]; The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell [goid 7219] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	"Interacting selectively with the Notch (N) protein, a surface receptor [goid 5112] [pmid 10742114] [evidence NAS]"	SCDO1	SCDO1
Synthase and synthetase -> Synthetase;Ligase -> Other ligase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_1715	ILMN_14610	ADSSL1	NM_152328.3	NM_152328.3		122622	40316947	NM_152328.3	ADSSL1	NP_689541.1	ILMN_1720235	4830372	A	1485	GTCTGGACTTGTGTAAACAGCAGCAGTCACGTTCCTCGGCCGCCACAACC	14	+	104284422-104284471	14q32.33b	"Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15786719] [evidence IDA]"	"Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats [goid 2376] [pmid 15786719] [evidence NAS]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; The chemical reactions and pathways resulting in the formation of AMP, adenosine monophosphate [goid 6167] [pmid 15786719] [evidence IDA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: GTP + IMP + L-aspartate = GDP + phosphate + N6-(1,2-dicarboxyethyl)-AMP [goid 4019] [pmid 15786719] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 15786719] [evidence NAS]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with phosphate [goid 42301] [pmid 15786719] [evidence NAS]"	FLJ38602	FLJ38602
Synthase and synthetase -> Synthetase;Ligase -> Other ligase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_14610	ILMN_14610	ADSSL1	NM_152328.3	NM_152328.3		122622	40316947	NM_152328.3	ADSSL1	NP_689541.1	ILMN_2240009	4900703	I	205	AGGGCAAAGGCAAGGTGGTGGACCTGCTGGCCACGGACGCCGACATCATC	14	+	104261783-104261832	14q32.33b	"Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15786719] [evidence IDA]"	"Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats [goid 2376] [pmid 15786719] [evidence NAS]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; The chemical reactions and pathways resulting in the formation of AMP, adenosine monophosphate [goid 6167] [pmid 15786719] [evidence IDA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: GTP + IMP + L-aspartate = GDP + phosphate + N6-(1,2-dicarboxyethyl)-AMP [goid 4019] [pmid 15786719] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 15786719] [evidence NAS]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with phosphate [goid 42301] [pmid 15786719] [evidence NAS]"	FLJ38602	FLJ38602
Membrane traffic protein -> Membrane traffic regulatory protein	Intracellular protein traffic -> Endocytosis;Transport;Neuronal activities -> Synaptic transmission -> Neurotransmitter release	Homo sapiens	RefSeq	ILMN_22961	ILMN_22961	BIN1	NM_139343.1	NM_139343.1		274	21536399	NM_139343.1	BIN1	NP_647593.1	ILMN_2309245	650553	A	2262	AGGGGCGTTCTCCCAAAGATTAGGTCGTTTTCCAAAGAGCCGCGTCCCGG	2	-	127522387-127522436	2q14.3d	"Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 9182667] [evidence TAS]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 8782822] [evidence TAS]; Any process that modulates the frequency, rate or extent of endocytosis [goid 30100] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	SH3P9; AMPHL; MGC10367; DKFZp547F068; AMPH2	MGC10367; AMPH2; SH3P9; AMPHL; DKFZp547F068
Molecular function unclassified	Protein metabolism and modification -> Protein folding	Homo sapiens	RefSeq	ILMN_30066	ILMN_30066	BTBD10	NM_032320.5	NM_032320.5		84280	93277081	NM_032320.5	BTBD10	NP_115696.2	ILMN_1809344	4250544	S	1956	TCACACAGCTAGGTCTTTTCAGAAGTGGTGGAAATTGGCAGCTGGGGTAC	11	-	13366633-13366682	11p15.2c	"Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	GMRP-1; GMRP1; MGC13007	MGC13007; GMRP-1; GMRP1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2126	ILMN_13766	DCTN3	NM_007234.3	NM_007234.3		11258	22165423	NM_007234.3	DCTN3	NP_009165.1	ILMN_1762281	7320187	A	520	CCAAGCAATTCGTGCAGTGGGATGAGCTACTTTGCCAGCTAGAGGCCGCC	9	-	34603805-34603854	9p13.3c	"Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA."	"A multisubunit complex that is located at the centromeric region of a condensed chromosome and provides an attachment point for the spindle microtubules [goid 777] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [evidence IEA]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A 20S multiprotein assembly of total mass about 1.2 MDa that activates dynein-based activity in vivo. A large structural component of the complex is an actin-like 40 nm filament composed of actin-related protein, to which other components attach [goid 5869] [pmid 9722614] [evidence IPI]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 9722614] [evidence IDA]"	"A cellular process resulting in the division of the cytoplasm of a cell and its separation into two daughter cells. Cytokinesis usually occurs after growth, replication, and segregation of cellular components [goid 910] [pmid 9722614] [evidence IDA]; Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins [goid 7017] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [pmid 9722614] [evidence TAS]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 9722614] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9722614] [evidence IPI]	MGC111190; DCTN22; DCTN-22	MGC111190; DCTN22; DCTN-22
Signaling molecule -> Other signaling molecule;Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction -> Intracellular signaling cascade	Homo sapiens	RefSeq	ILMN_15874	ILMN_15874	ARHGDIA	NM_004309.3	NM_004309.3		396	34147601	NM_004309.3	ARHGDIA	NP_004300.1	ILMN_1734742	4760255	S	1687	CAGGCCTTCCCTGACCCAGCCAGGAACAAACAAGGGACCAAGTGCACACA	17	-	77419011-77419060	17q25.3g	"Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 16130169] [evidence TAS]"	"A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 16130169] [evidence TAS]; Any process involved in the controlled movement of a cell [goid 6928] [pmid 16130169] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion [goid 7162] [pmid 8262133] [evidence TAS]; A series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state [goid 7266] [pmid 8262133] [evidence TAS]"	"Prevents the dissociation of GDP from the small GTPase Rho, thereby preventing GTP from binding [goid 5094] [pmid 8262133] [evidence TAS]; Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 17353931] [evidence IPI]"	MGC117248; GDIA1; RHOGDI; RHOGDI-1	GDIA1; RHOGDI-1; MGC117248; RHOGDI
Transporter -> Other transporter	Transport -> Small molecule transport;Transport -> Other transport	Homo sapiens	RefSeq	ILMN_18647	ILMN_18647	SLC22A18	NM_183233.1	NM_183233.1		5002	34734072	NM_183233.1	SLC22A18	NP_899056.1	ILMN_1724902	6270465	I	36	AACCAGTTCCCTGGCTACCTGAGGCCCTGCTTCACCTGGAGGAAGACAGT	11	+	2877562-2877611	11p15.4d	"Homo sapiens solute carrier family 22 (organic cation transporter), member 18 (SLC22A18), transcript variant 2, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9744804] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9499412] [evidence TAS]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 9744804] [evidence TAS]; The directed movement of tetracycline into, out of, within or between cells. Tetracycline is a broad spectrum antibiotic that blocks binding of aminoacyl tRNA to the ribosomes of both Gram-positive and Gram-negative organisms (and those of organelles) [goid 15904] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease [goid 42493] [pmid 9744804] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms [goid 46677] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 9499412] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: H+(out) + tetracycline(in) = H+(in) + tetracycline(out) [goid 15520] [evidence IEA]"	IMPT1; TSSC5; SLC22A1L; HET; ORCTL2; BWSCR1A; p45-BWR1A; BWR1A; DKFZp667A184; ITM	IMPT1; TSSC5; SLC22A1L; HET; ORCTL2; BWSCR1A; p45-BWR1A; BWR1A; DKFZp667A184; ITM
Kinase -> Protein kinase;Transferase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Phosphate metabolism;Other metabolism	Homo sapiens	RefSeq	ILMN_26831	ILMN_26831	NEK1	NM_012224.1	NM_012224.1		4750	41872672	NM_012224.1	NEK1	NP_036356.1	ILMN_2162234	4760674	S	5237	CACAATATGCCAAGTATAACCTGGTTTCGTTAGAGGTGTCTACAGTCCAG	4	-	170551218-170551267	4q33a	"Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15604234] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15604234] [evidence IDA]"	"The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14690447] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14690447] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	DKFZp686D06121; DKFZp686K12169; KIAA1901; NY-REN-55; MGC138800	KIAA1901; DKFZp686D06121; DKFZp686K12169; NY-REN-55; MGC138800
Nucleic acid binding -> Other RNA-binding protein;Synthase and synthetase -> Synthetase -> Aminoacyl-tRNA synthetase;Ligase	Protein metabolism and modification -> Amino acid activation	Homo sapiens	RefSeq	ILMN_20962	ILMN_20962	SARS2	NM_017827.2	NM_017827.2		54938	20149644	NM_017827.2	SARS2	NP_060297.1	ILMN_1655684	4730168	S	1925	CCAGTGGGAAGCAGGACGTCTGGGCTTTACGGTTCTAGGGACAGGAGAAG	19	-	44097828-44097877	19q13.2a	"Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 10764807] [evidence ISS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]"	"The process of coupling serine to seryl-tRNA, catalyzed by seryl-tRNA synthetase. In tRNA aminoacylation, the amino acid is first activated by linkage to AMP and then transferred to either the 2'- or the 3'-hydroxyl group of the 3'-adenosine residue of the tRNA [goid 6434] [pmid 10764807] [evidence ISS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser) [goid 4828] [pmid 10764807] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 10764807] [evidence ISS]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]"	SERS; SARSM; FLJ20450; mtSerRS; SYS; SerRSmt; SARS	SERS; SARSM; FLJ20450; mtSerRS; SYS; SerRSmt; SARS
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1322	ILMN_1322	DCST1	NM_152494.1	NM_152494.1		149095	22749028	NM_152494.1	DCST1	NP_689707.1	ILMN_1774491	4640259	S	2162	AGCTCTCTTCCTCCGCCTTTAGTGACAGCAACGACGACACTGCCTACGCG	1	+	153289913-153289962	1q21.3e	"Homo sapiens DC-STAMP domain containing 1 (DCST1), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ32785; RP11-307C12.10	RP11-307C12.10; FLJ32785
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_5804	ILMN_5804	LONP1	NM_004793.2	NM_004793.2		9361	21396488	NM_004793.2	LONP1	NP_004784.2	ILMN_1766125	540717	S	2809	TTCATCACCGAGGGCCTGGAGGTGCACTTCGTGGAACACTACCGGGAGAT	19	-	5643097-5643146	19p13.3b	"Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8248235] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]"	The hydrolysis of a peptide bond or bonds within a protein using energy from the hydrolysis of ATP [goid 6510] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the hydrolysis of peptide bonds [goid 4176] [pmid 8248235] [evidence TAS]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate [goid 17111] [evidence IEA]"	LonHS; LON; hLON; LONP; MGC1498; PRSS15; PIM1	LonHS; hLON; LONP; MGC1498; PRSS15; PIM1; LON
Nucleic acid binding -> mRNA processing factor -> mRNA splicing factor	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_12938	ILMN_179557	SLU7	NM_006425.4	NM_006425.4		10569	119393888	NM_006425.4	SLU7	NP_006416.3	ILMN_1685369	50475	S	1754	GGCCCGCCTTCTTCATGTCAAGGAGACCATGCAGATTGATGAGAGGAAGC	5	-	159762982-159763031	5q33.3d	"Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [pmid 10197984] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy [goid 16607] [pmid 15728250] [evidence IDA]; A complex composed of RNA of the small nuclear RNA (snRNA) class and protein, found in the nucleus of a eukaryotic cell. These are typically named after the snRNA(s) they contain, e.g. U1 snRNP or U4/U6 snRNP. Many, but not all, of these complexes are involved in splicing of nuclear mRNAs [goid 30532] [pmid 15181151] [evidence IDA]"	The process of generating multiple mRNA molecules from a given set of exons by differential use of exons from the primary transcript(s) to form multiple mature mRNAs that vary in their exon composition [goid 380] [pmid 15728250] [evidence IDA]; Recognition of the intron 3'-splice site by components of the assembling U2- or U12-type spliceosome [goid 389] [pmid 15728250] [evidence IDA]; Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]	"Catalysis of the second transesterification reaction of spliceosomal mRNA splicing. Ligation of the two exons occurs via a transesterification reaction where the free 3'-hydroxyl group of the 5' exon is the nucleophile attacking the 3' splice site. Non-expressed sequences are now detached from the exons. In cis splicing, the intron is in a lariat structure [goid 386] [pmid 10197984] [evidence IDA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 15181151] [evidence IDA]; Interacting selectively with the pre-mRNA 3' splice site sequence [goid 30628] [pmid 15728250] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	hSlu7; 9G8; MGC9280	hSlu7; 9G8; MGC9280
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_163182	ILMN_163182	NOMO1	NM_014287.3	NM_014287.3		23420	51944952	NM_014287.3	NOMO1	NP_055102.3	ILMN_2126957	2650040	S	3732	TTGAGGAGGAAGGGGACAGTTGCAGTCTCACTTGGGACAGGCCACAGCCA	16	+	14897000-14897003:14897004-14897049	16p13.11b	"Homo sapiens NODAL modulator 1 (NOMO1), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]; Interacting selectively with any carbohydrate [goid 30246] [evidence IEA]"	Nomo; PM5	Nomo; PM5
Transfer/carrier protein -> Mitochondrial carrier protein	Intracellular protein traffic -> Mitochondrial transport	Homo sapiens	RefSeq	ILMN_9968	ILMN_9968	TIMM9	NM_012460.2	NM_012460.2		26520	21359892	NM_012460.2	TIMM9	NP_036592.1	ILMN_1653709	4900209	S	661	GCAGCCAAAGCAGGACTCCTTGGCCAACCACGATAGAGAAGTCCTGATGG	14	-	57945490-57945504:57945505-57945539	14q23.1b	"Homo sapiens translocase of inner mitochondrial membrane 9 homolog (yeast) (TIMM9), nuclear gene encoding mitochondrial protein, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The protein transport machinery of the mitochondrial inner membrane that contains three essential Tim proteins: Tim17 and Tim23 are thought to build a preprotein translocation channel while Tim44 interacts transiently with the matrix heat-shock protein Hsp70 to form an ATP-driven import motor [goid 5744] [pmid 10552927] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Soluble complex of the mitochondrial intermembrane space composed of various combinations of small Tim proteins; acts as a protein transporter to guide proteins to the Tim22 complex for insertion into the mitochondrial inner membrane [goid 42719] [evidence IEA]"	"The process of directing proteins towards and into the mitochondrion, mediated by mitochondrial proteins that recognize signals contained within the imported protein [goid 6626] [pmid 10552927] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 10552927] [evidence TAS]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The import of proteins into the mitochondria inner membrane. Inner membrane proteins are first imported into the matrix space where the matrix-targeting sequence is removed; how these proteins then are incorporated into the inner membrane is not known [goid 45039] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 10552927] [evidence TAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	TIM9; TIM9A	TIM9A; TIM9
Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_29003	ILMN_29003	KCNN3	NM_002249.4	NM_002249.4		3782	116805329	NM_002249.4	KCNN3	NP_002240.3	ILMN_1801608	5570068	I	990	GACAACCATGCCCACCAGACCCTGCTCCATCACCCTAATGCCACCCACAA	1	-	153108339-153108388	1q21.3e	"Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	"Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Catalysis of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient [goid 15269] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Catalysis of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient [goid 15269] [evidence IEA]"	SKCA3; KCa2.3; hSK3; SK3	SKCA3; KCa2.3; hSK3; SK3
Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_12241	ILMN_29003	KCNN3	NM_002249.4	NM_002249.4		3782	116805329	NM_002249.4	KCNN3	NP_002240.3	ILMN_1744897	1570184	A	2702	TTAGGTGCCTCTACTTGGGAGCGGGAAGAGGAGATGACAGGAAGCGACGC	1	-	152946834-152946883	1q21.3e	"Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	"Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Catalysis of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient [goid 15269] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Catalysis of the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient [goid 15269] [evidence IEA]"	SKCA3; KCa2.3; hSK3; SK3	SKCA3; KCa2.3; hSK3; SK3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1259	ILMN_1259	FERMT3	NM_031471.4	NM_031471.4		83706	34222247	NM_031471.4	FERMT3	NP_113659.3	ILMN_2366334	7050736	A	1873	GTGGAATGTCAACTGGGACATCCGGCAGGTGGCCATCGAGTTTGATGAAC	11	+	63747210-63747237:63747361-63747382	11q13.1a	"Homo sapiens fermitin family homolog 3 (Drosophila) (FERMT3), transcript variant URP2SF, mRNA."	"An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm [goid 2102] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]	URP2; UNC112C; MIG-2; KIND3; MGC10966; MIG2B	MIG-2; KIND3; MIG2B; URP2; UNC112C; MGC10966
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1259	ILMN_1259	FERMT3	NM_031471.4	NM_031471.4		83706	34222247	NM_031471.4	FERMT3	NP_113659.3	ILMN_2366330	6060315	A	2289	AGCTCATGTGGTGCCCCCTTTCCTTGTCTGAGTGGCTGAGGCTGATACCC	11	+	63747749-63747798	11q13.1a	"Homo sapiens fermitin family homolog 3 (Drosophila) (FERMT3), transcript variant URP2SF, mRNA."	"An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm [goid 2102] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]	URP2; UNC112C; MIG-2; KIND3; MGC10966; MIG2B	MIG-2; KIND3; MIG2B; URP2; UNC112C; MGC10966
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11280	ILMN_11280	TNP1	NM_003284.2	NM_003284.2		7141	34850064	NM_003284.2	TNP1	NP_003275.1	ILMN_2150797	5490427	S	222	GCGCTTCACACAGCACCAAGCAGCAACAAGAACAGCAGAAGGGGAACTGC	2	-	217432556-217432605	2q35c	"Homo sapiens transition protein 1 (during histone to protamine replacement) (TNP1), mRNA."	"A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures [goid 786] [pmid 12743712] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information [goid 5694] [evidence IEA]"	"The repair of single strand breaks in DNA. Repair of such breaks is mediated by the same enzyme systems as are used in base excision repair [goid 12] [pmid 12743712] [evidence IDA]; The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA [goid 6337] [pmid 10781074] [evidence IMP]; Dynamic structural changes to eukaryotic chromatin occurring throughout the cell division cycle. These changes range from the local changes necessary for transcriptional regulation to global changes necessary for chromosome segregation [goid 6338] [pmid 12743712] [evidence IDA]; Repression of transcription by altering the structure of chromatin, e.g. by conversion of large regions of DNA into an inaccessible state often called heterochromatin [goid 6342] [pmid 11315969] [evidence IEP]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The change in shape of the spermatid nucleus from a spherical structure to an elongated organelle, during the latter part of spermatid differentiation [goid 7290] [pmid 10781074] [evidence IMP]; The regular alternation, in the life cycle of haplontic, diplontic and diplohaplontic organisms, of meiosis and fertilization which provides for the production offspring. In diplontic organisms there is a life cycle in which the products of meiosis behave directly as gametes, fusing to form a zygote from which the diploid, or sexually reproductive polyploid, adult organism will develop. In diplohaplontic organisms a haploid phase (gametophyte) exists in the life cycle between meiosis and fertilization (e.g. higher plants, many algae and Fungi); the products of meiosis are spores that develop as haploid individuals from which haploid gametes develop to form a diploid zygote; diplohaplontic organisms show an alternation of haploid and diploid generations. In haplontic organisms meiosis occurs in the zygote, giving rise to four haploid cells (e.g. many algae and protozoa), only the zygote is diploid and this may form a resistant spore, tiding organisms over hard times [goid 19953] [pmid 10781074] [evidence IMP]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process involved in the controlled movement of a sperm cell [goid 30317] [pmid 10781074] [evidence IMP]; Replacement of sperm-specific chromosomal proteins with somatic histones, to allow the paternal genome to acquire a nucleosomal chromatin organization compatible with nuclear activity [goid 35042] [pmid 12743712] [evidence TAS]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 12743712] [evidence IMP]	TP1	TP1
Transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7559	ILMN_7559	PJA2	NM_014819.3	NM_014819.3		9867	142350628	NM_014819.3	PJA2	NP_055634.2	ILMN_1688702	520431	S	4655	AGCCCAGGTCTAAATGTAATGGTTGGTTTATTGTTCTATAACCCCAGCCC				5q21.3e	"Homo sapiens praja 2, RING-H2 motif containing (PJA2), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	Neurodap1; KIAA0438; RNF131	KIAA0438; RNF131; Neurodap1
Molecular function unclassified	Apoptosis	Homo sapiens	RefSeq	ILMN_9985	ILMN_9985	BNIP2	NM_004330.1	NM_004330.1		663	4757855	NM_004330.1	BNIP2	NP_004321.1	ILMN_1770803	7380136	S	2016	GCTATGTGTCCAGGGTATTGCTCCCCTGAGTGTATATGAGTGCTGAGTAG	15	-	57742649-57742698	15q22.2a	"Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA."	"The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [pmid 7954800] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 7954800] [evidence IDA]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 7954800] [evidence IDA]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 7954800] [evidence IPI]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 7954800] [evidence TAS]"	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [pmid 10799524] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 7954800] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10381623] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7954800] [evidence IPI]"	BNIP-2; NIP2	BNIP-2; NIP2
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism;Developmental processes	Homo sapiens	RefSeq	ILMN_18757	ILMN_18757	ARID3A	NM_005224.2	NM_005224.2		1820	118026938	NM_005224.2	ARID3A	NP_005215.1	ILMN_1670130	6510553	S	2546	CCACACACTCACCACTCCCAGCTTCTCGTGTCCAGTGAAACCCCTGAACC	19	+	923539-923588	19p13.3i	"Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence NAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [evidence IEA]	E2FBP1; DRIL3; BRIGHT; DRIL1	E2FBP1; DRIL3; BRIGHT; DRIL1
Transferase -> Acyltransferase	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism	Homo sapiens	RefSeq	ILMN_14124	ILMN_14124	MOGAT1	NM_058165.2	NM_058165.2		116255	148746190	NM_058165.2	MOGAT1	NP_477513.2	ILMN_1765971	5960196	S	933	GAACCCGACCCAGGAGCAGATTGAGGAGTTACATCAGACCTATATGGAGG	2	+	223282730-223282779	2q36.1c	"Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids [goid 6071] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of diacylglycerol, a glycerol molecule substituted on the 1 and 2 hydroxyl groups with long chain fatty acyl residues [goid 6651] [evidence IEA]; The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 8610] [evidence IEA]"	"Catalysis of the reaction: acyl-CoA + 2-acylglycerol = CoA + diacylglycerol [goid 3846] [evidence IEA]; Catalysis of the reaction: acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol [goid 4144] [evidence IEA]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	DGAT2L; MGAT1; DGAT2L1	DGAT2L1; DGAT2L; MGAT1
Select calcium binding protein -> Calmodulin related protein	Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Cell cycle;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_24290	ILMN_24290	CABP4	NM_145200.2	NM_145200.2		57010	46852395	NM_145200.2	CABP4	NP_660201.1	ILMN_1688864	5270364	S	1223	ACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTA	11	+	66983024-66983073	11q13.1f	"Homo sapiens calcium binding protein 4 (CABP4), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 16960802] [evidence NAS]; A motor complex composed of an extracellular helical protein filament coupled to a rotary motor embedded in the cell envelope [goid 9288] [evidence IEA]; Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters [goid 43195] [pmid 15452577] [evidence TAS]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [pmid 16960802] [evidence TAS]"	"Cell motility due to movement of cilia or flagella [goid 1539] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10625670] [evidence NAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 16960802] [evidence IMP]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 15452577] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 16960802] [evidence NAS]	CSNB2B	CSNB2B
Transporter -> Other transporter	Transport -> Small molecule transport;Transport -> Extracellular transport and import	Homo sapiens	RefSeq	ILMN_13282	ILMN_177948	SLC6A15	NM_182767.3	NM_182767.3		55117	60115819	NM_182767.3	SLC6A15	NP_877499.1	ILMN_1659166	6270445	A	1144	TGACCATCTGCTTGTTGGCTGCCTGGGTCATGGTTTGCTTGGCTATGATC	12	-	83801792-83801841	12q21.31d-q21.31e	"Homo sapiens solute carrier family 6, member 15 (SLC6A15), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of a neurotransmitter into, out of, within or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell [goid 6836] [pmid 11112352] [evidence NAS]; The directed movement of a neurotransmitter into, out of, within or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell [goid 6836] [evidence IEA]"	Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: neurotransmitter(out) + Na+(out) = neurotransmitter(in) + Na+(in) [goid 5328] [evidence IEA]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: neurotransmitter(out) + Na+(out) = neurotransmitter(in) + Na+(in) [goid 5328] [evidence IEA]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]	FLJ10316; DKFZp761I0921; NTT73; hv7-3; MGC87066; V7-3	FLJ10316; DKFZp761I0921; NTT73; hv7-3; MGC87066; V7-3
Transporter -> Other transporter	Transport -> Small molecule transport;Transport -> Extracellular transport and import	Homo sapiens	RefSeq	ILMN_13282	ILMN_177948	SLC6A15	NM_182767.3	NM_182767.3		55117	60115819	NM_182767.3	SLC6A15	NP_877499.1	ILMN_1810533	290685	I	4315	CAGTGTGAAGTAAGTTCTCATCCAACATTTCTCCTGGCCATCCATTCTCC	12	-	83777831-83777880	12q21.31d-q21.31e	"Homo sapiens solute carrier family 6, member 15 (SLC6A15), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of a neurotransmitter into, out of, within or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell [goid 6836] [pmid 11112352] [evidence NAS]; The directed movement of a neurotransmitter into, out of, within or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell [goid 6836] [evidence IEA]"	Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: neurotransmitter(out) + Na+(out) = neurotransmitter(in) + Na+(in) [goid 5328] [evidence IEA]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: neurotransmitter(out) + Na+(out) = neurotransmitter(in) + Na+(in) [goid 5328] [evidence IEA]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]	FLJ10316; DKFZp761I0921; NTT73; hv7-3; MGC87066; V7-3	FLJ10316; DKFZp761I0921; NTT73; hv7-3; MGC87066; V7-3
Nucleic acid binding -> Ribosomal protein	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_139166	ILMN_139166	RPL27A	NM_000990.2	NM_000990.2		6157	14141189	NM_000990.2	RPL27A	NP_000981.1	ILMN_1713086	4920193	S	27	CATCCAGACTGAGGAAGACCCGGAAACTTAGGGGCCACGTGAGCCACGGC	11	+	8661326-8661375	11p15.4b	"Homo sapiens ribosomal protein L27a (RPL27A), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 14567916] [evidence EXP]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]; The large subunit of the ribosome that is found in the cytosol of the cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 22625] [pmid 7772601] [evidence TAS]"	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [pmid 15189156] [evidence EXP]	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 7772601] [evidence TAS]; The action of a molecule that contributes to the structural integrity of the ribosome [goid 3735] [pmid 7772601] [evidence TAS]	MGC87238	MGC87238
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_20873	ILMN_20873	C4ORF28	NM_145048.2	NM_145048.2		133015	34222178	NM_145048.2	C4orf28	NP_659485.1	ILMN_2205695	1740731	S	1457	CCAGGCTGGTCTCAGAATTCTGGTGAGTGATCCTCCCACAGTGGACTTCC	4	+	20338715-20338764	4p15.31d	"Homo sapiens chromosome 4 open reading frame 28 (C4orf28), mRNA."			"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	MGC29898	MGC29898
Signaling molecule -> Growth factor	Signal transduction -> Cell communication -> Ligand-mediated signaling;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_13020	ILMN_13020	HBEGF	NM_001945.1	NM_001945.1		1839	4503412	NM_001945.1	HBEGF	NP_001936.1	ILMN_2121408	1820594	S	2024	CTGGTGCTACTCCATGCAGGGGTCAGTGCAGCAGAGGACAGTCTGGAGAA	5	-	139692882-139692931	5q31.3a	"Homo sapiens heparin-binding EGF-like growth factor (HBEGF), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 15389565] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 15389565] [evidence TAS]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 15289334] [evidence NAS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 1840698] [evidence TAS]; The series of molecular signals generated as a consequence of an epidermal growth factor receptor binding to one of its physiological ligands [goid 7173] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 8347598] [evidence TAS]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [evidence IEA]; The migration of epithelial cells along or through a wound gap to reestablish a continuous epithelium [goid 35313] [evidence IEA]; Any process that activates or increases the rate or extent of smooth muscle cell proliferation [goid 48661] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of keratinocyte migration [goid 51549] [evidence IEA]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with the epidermal growth factor receptor [goid 5154] [pmid 10749879] [evidence TAS]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [pmid 8300582] [evidence IMP]"	HEGFL; DTR; DTS; DTSF	DTS; DTSF; HEGFL; DTR
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4299	ILMN_4299	FAM109B	NM_001002034.2	NM_001002034.2		150368	115583656	NM_001002034.2	FAM109B	NP_001002034.2	ILMN_1806487	6020632	S	2039	AGAGACACCCCCTCCCAAACACATAAAACTTGCCCCTTCCTAGCCTCGGC	22	+	40805095-40805144	22q13.2b	"Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]"			MGC125831; DKFZp686J07229; MGC125832	MGC125831; DKFZp686J07229; MGC125832
	Developmental processes -> Mesoderm development -> Skeletal development;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_28275	ILMN_28275	PDLIM7	NM_005451.3	NM_005451.3		9260	42741673	NM_005451.3	PDLIM7	NP_005442.2	ILMN_2396639	1580446	A	499	GCTGGTCCCAGATGCCAGCAAGCAGCGGCTGATGGAGAACACAGAGGACT	5	-	176850688-176850737	5q35.3a	"Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA."	"Bundle of microfilaments and other proteins found in fibroblasts [goid 1725] [evidence IEA]; Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]"	"The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 7929196] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16713569] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
	Developmental processes -> Mesoderm development -> Skeletal development;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_5202	ILMN_28275	PDLIM7	NM_005451.3	NM_005451.3		9260	42741673	NM_005451.3	PDLIM7	NP_005442.2	ILMN_1814985	770639	A	577	GCGTTCCTTCCGCATCCTTGCCCACCTCACAGGCACCGAGTTCATGCAAG	5	-	176850507-176850513:176850617-176850659	5q35.3a	"Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA."	"Bundle of microfilaments and other proteins found in fibroblasts [goid 1725] [evidence IEA]; Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]"	"The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 7929196] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16713569] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
	Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_25849	ILMN_165524	LIMD2	NM_030576.3	NM_030576.3		80774	149274612	NM_030576.3	LIMD2	NP_085053.1	ILMN_1673867	3940494	S	2754	CAAAAACCTACCTCCACCCCCCACAACTGAAAGCACTGCCACAGGACCCC	17	-	59127402-59127451	17q23.3a	"Homo sapiens LIM domain containing 2 (LIMD2), mRNA."			Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC10986	MGC10986
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10919	ILMN_10919	LCA5L	NM_152505.3	NM_152505.3		150082	53832012	NM_152505.3	LCA5L	NP_689718.1	ILMN_1665657	7200689	S	2213	CTGCCTCCCAGTCAGGCCTCCACCAGCCATGCTTTCGGAGACTCTAAAGT	21	-	39699741-39699790	21q22.2b	"Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA."				C21orf13; MGC33295	MGC33295; C21orf13
Signaling molecule -> Cytokine -> Tumor necrosis factor family member	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> NF-kappaB cascade;Signal transduction -> Intracellular signaling cascade -> JNK cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> T-cell mediated immunity;Immunity and defense -> Interferon-mediated immunity;Apoptosis -> Induction of apoptosis;Developmental processes -> Other developmental process;Developmental processes -> Mesoderm development -> Skeletal development;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_1354	ILMN_1354	TNFSF11	NM_033012.2	NM_033012.2		8600	21536432	NM_033012.2	TNFSF11	NP_143026.1	ILMN_1658713	6380242	I	2	CGCCTGGCCTATTGAAGGTTTTTAATCTTCAGAGTTTCGACTTTATCAAC	13	+	42043796-42043845	13q14.11c	"Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10708588] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9568710] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9312132] [evidence NAS]"	"Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 9312132] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of osteoclast differentiation [goid 45672] [pmid 17241109] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of bone resorption [goid 45780] [pmid 17241109] [evidence IDA]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [pmid 9568710] [evidence NAS]; Interacting selectively with the tumor necrosis factor receptor [goid 5164] [pmid 9367155] [evidence NAS]; Interacting selectively with the tumor necrosis factor receptor [goid 5164] [pmid 9312132] [evidence NAS]"	RANKL; hRANKL2; sOdf; OPTB2; ODF; OPGL; CD254; TRANCE	RANKL; hRANKL2; ODF; OPGL; CD254; sOdf; OPTB2; TRANCE
Select regulatory molecule -> Protease inhibitor -> Cysteine protease inhibitor	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_20022	ILMN_176400	CST6	XM_001129442.1	XM_001129442.1		1474	113422960	XM_001129442.1	CST6	XP_001129442.1	ILMN_1697733	4010491	A	220	CAGCAGGAGAAGCTGCGCTGTGACTTTGAGGTCCTTGTGGTTCCCTGGCA				11q13.1d	"PREDICTED: Homo sapiens cystatin E/M (CST6), mRNA."	An insoluble protein structure formed under the plasma membrane of cornifying epithelial cells [goid 1533] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 9099741] [evidence TAS]"	 [goid 4869] [pmid 8995380] [evidence TAS]
Transporter -> Other transporter	Transport -> Ion transport -> Cation transport;Homeostasis	Homo sapiens	RefSeq	ILMN_176000	ILMN_176000	SLC4A4	NM_003759.1	NM_003759.1		8671	4507024	NM_003759.1	SLC4A4	NP_003750.1	ILMN_2184556	2060192	S	7121	GCAACTCAGGGCTAAAGTCATCCAGTGAAACTTTTAGAGCCAGAAGTAAC	4	+	72656196-72656245	4q13.3b	"Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9235899] [evidence TAS]; The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 16323] [evidence IEA]"	"The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of anions, atoms or small molecules with a net negative charge, into, out of, within or between cells [goid 6820] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA];  [goid 5452] [evidence IEA]; Catalysis of the transfer of a negatively charged ion from one side of a membrane to the other [goid 8509] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + HCO3-(out) = Na+(in) + HCO3-(in) [goid 8510] [pmid 9651366] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]"	hhNMC; KNBC; HNBC1; SLC4A5; pNBC; DKFZp781H1314; NBC2; NBC1	KNBC; pNBC; NBC2; NBC1; hhNMC; HNBC1; SLC4A5; DKFZp781H1314
Miscellaneous function -> Structural protein	Miscellaneous;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_8069	ILMN_8069	KRTAP13-1	NM_181599.2	NM_181599.2		140258	109288005	NM_181599.2	KRTAP13-1	NP_853630.2	ILMN_2055638	6250326	S	471	CTTCTAGGAGCTGCCAGTCTTCTTGCTACAGACCAACTTGTGGATCAGGC	21	+	30690733-30690782	21q22.11a	"Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA."	"A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]"			KAP13.1; KRTAP13.1	KAP13.1; KRTAP13.1
Molecular function unclassified	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_20380	ILMN_169028	PHF2	NM_005392.3	NM_005392.3		5253	117190341	NM_005392.3	PHF2	NP_005383.3	ILMN_1720476	2760494	A	4937	CCATTACCTGGATGTTTTTGTCCACTGGGAGAGGCAGCTTGGTGGAGGCC	9	+	95481278-95481327	9q22.31b	"Homo sapiens PHD finger protein 2 (PHF2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10051327] [evidence TAS]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC176680; KIAA0662; GRC5; JHDM1E	MGC176680; KIAA0662; GRC5; JHDM1E
Molecular function unclassified	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_17193	ILMN_169028	PHF2	NM_005392.3	NM_005392.3		5253	117190341	NM_005392.3	PHF2	NP_005383.3	ILMN_1726426	1030520	I	218	ACGCCTGCAAGGACTGGTTCCACGGCAGCTGTGTTGGGGTGGAAGAGGAG	9	+	95378947-95378974:95432073-95432094	9q22.31b	"Homo sapiens PHD finger protein 2 (PHF2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10051327] [evidence TAS]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC176680; KIAA0662; GRC5; JHDM1E	MGC176680; KIAA0662; GRC5; JHDM1E
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_21881	ILMN_21881	C10ORF68	NM_024688.1	NM_024688.1		79741	13375961	NM_024688.1	C10orf68	NP_078964.1	ILMN_1662791	5890162	S	2485	CAGCTGGAAATACAGTGGATCAACAGGGTAGGCCCAGATCACAGAAGGCC	10	+	33205452-33205501	10p11.22b	"Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA."				FLJ13031; RP11-479G22.1; MGC149767; dJ1104A8.1	FLJ13031; MGC149767; RP11-479G22.1; dJ1104A8.1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2359	ILMN_2359	RNF6	NM_183043.1	NM_183043.1		6049	34305292	NM_183043.1	RNF6	NP_898864.1	ILMN_2275455	1980014	I	6	TTGTGAGAATCTAGGTCTCTAAGGGAAGCGTTACTTGAGGCTCGGTTGGG	13	-	25693923-25693972	13q12.13b	"Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 4, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection [goid 16605] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of axon outgrowth [goid 30517] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 10331950] [evidence NAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [evidence IEA]	DKFZp686P0776	DKFZp686P0776
Nucleic acid binding -> mRNA processing factor -> mRNA splicing factor	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_29000	ILMN_29000	LSM11	NM_173491.2	NM_173491.2		134353	142357575	NM_173491.2	LSM11	NP_775762.1	ILMN_1702698	940221	S	2492	GGTGAGCAGACTTAACCCCTCCGTGCCTCAGCTTTTTCCCCACAGACACC	5	+	157116255-157116304	5q33.3b	"Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A macromolecular complex containing both protein and RNA molecules [goid 30529] [evidence IEA]"	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	FLJ38273	FLJ38273
Transcription factor -> Other transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_25986	ILMN_162768	TEAD3	NM_003214.3	NM_003214.3		7005	148277074	NM_003214.3	TEAD3	NP_003205.2	ILMN_1814002	20717	S	2867	GCTGTGATGGGTTATATCATAAATGCAGCTTGGGGTTGGAGCAGGGGCCC	6	-	35549426-35549475	6p21.31c	"Homo sapiens TEA domain family member 3 (TEAD3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 9148898] [evidence TAS]; The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth [goid 7565] [pmid 9148898] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 9148898] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Any transcription regulator activity required for initiation or upregulation of transcription [goid 16563] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]	TEF-5; DTEF-1; TEF5; TEAD5; ETFR-1	TEF-5; TEF5; TEAD5; ETFR-1; DTEF-1
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis;Other metabolism	Homo sapiens	RefSeq	ILMN_28873	ILMN_28873	TMPRSS11D	NM_004262.2	NM_004262.2		9407	61744464	NM_004262.2	TMPRSS11D	NP_004253.1	ILMN_1746928	2320168	S	2565	TTCCTCCTTCTACAAGCTAACTCCCTGCATCTGGGCATCAGGACTGCTCC	4	-	68369357-68369406	4q13.2b	"Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9565616] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9565616] [evidence TAS]	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms [goid 7585] [pmid 9565616] [evidence TAS]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [pmid 9565616] [evidence TAS]"	MGC150587; HAT; MGC150588	MGC150587; HAT; MGC150588
		Homo sapiens	RefSeq	ILMN_5970	ILMN_307385	LOC26010	NM_001100422.1	NM_001100422.1		26010	154426252	NM_001100422.1	LOC26010	NP_001093892.1	ILMN_1683678	7380221	S	2129	CCCTGCCCGAGGTGCTGACCCAATTCGCTGCCAAAAGAGTGTCAATCAGA	2	+	201051039-201051088	2q33.1e	"Homo sapiens viral DNA polymerase-transactivated protein 6 (LOC26010), transcript variant 2, mRNA."				DNAPTP6; DKFZp564A2416	DNAPTP6; DKFZp564A2416
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1071	ILMN_1071	LAGE3	NM_006014.3	NM_006014.3		8270	110349722	NM_006014.3	LAGE3	NP_006005.2	ILMN_1708151	1240482	S	656	TCGTCCGCTGGAAAGCTGAAGACTGTCGCCTGCTCCGAATTTCCGTCATC	X	-	153359545-153359591:153359816-153359818	Xq28g	"Homo sapiens L antigen family, member 3 (LAGE3), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]"	CVG5; ITBA2; ESO3; DXS9951E; DXS9879E	CVG5; ITBA2; ESO3; DXS9879E; DXS9951E
Nucleic acid binding -> Translation factor -> Translation initiation factor	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_29842	ILMN_29842	TRMT6	NM_015939.3	NM_015939.3		51605	29244922	NM_015939.3	TRMT6	NP_057023.2	ILMN_1765085	4060280	S	1953	CAACGTAACTAAAACATGGCGGGTACCGAAAGGAGGGCAATTCATGGAAG	20	-	5866794-5866843	20p12.3c	"Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of translational initiation [goid 6446] [evidence IEA]; The process by which a pre-tRNA molecule is converted to a mature tRNA, ready for addition of an aminoacyl group [goid 8033] [evidence IEA]"	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide [goid 3743] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16043508] [evidence IPI]	GCD10; MGC5029; Gcd10p; CGI-09	GCD10; MGC5029; Gcd10p; CGI-09
Signaling molecule -> Other signaling molecule	Apoptosis -> Induction of apoptosis;Developmental processes -> Gametogenesis;Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis -> Tumor suppressor	Homo sapiens	RefSeq	ILMN_11763	ILMN_11763	BAX	NM_138765.2	NM_138765.2		581	34335125	NM_138765.2	BAX	NP_620120.1	ILMN_2321064	3520092	A	467	TCAGAACCATCATGGGCTGGACATTGGACTTCCTCCGGGAGCGGCTGTTG	19	+	54155907-54155956	19q13.33a	"Homo sapiens BCL2-associated X protein (BAX), transcript variant sigma, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 11912183] [evidence IDA]; The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope [goid 5741] [evidence IEA]; The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope [goid 5741] [pmid 11136736] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11912183] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10629050] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 44445] [evidence IEA]"	"Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; The non-specific expansion of T cell populations within a whole or part of an organism to reach to a total number of T cells which will then remain stable over time in the absence of an external stimulus [goid 1777] [evidence IEA]; The process by which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation [goid 1836] [evidence IEA]; The process by which a protein is incorporated into a mitochondrial membrane as an early step in apoptosis [goid 1844] [evidence IEA]; The non-specific expansion of B cell populations within a whole or part of an organism to reach to a total number of B cells which will then remain stable over time in the absence of an external stimulus [goid 2358] [evidence IEA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 11912183] [evidence IDA]; Upregulation of the activity of a caspase, any of a group of cysteine proteases involved in apoptosis [goid 6919] [pmid 11912183] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; Merging of two or more mitochondria within a cell to form a single compartment [goid 8053] [evidence IEA]; Any process induced by extracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8624] [evidence IEA]; Any process induced by intracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8629] [evidence IEA]; Upregulation of the activity of a caspase, any of a group of cysteine proteases involved in apoptosis, mediated by cytochrome c [goid 8635] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism [goid 9611] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxin stimulus [goid 9636] [evidence IEA]; The breakdown of the nucleus into small membrane-bounded compartments, or blebs, each of which contain compacted DNA [goid 30264] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; Any process that modulates the activity of a caspase, any of a group of cysteine proteases involved in apoptosis [goid 43281] [evidence IEA]; Any process that modulates the frequency, rate or extent of protein homodimerization, interacting selectively with an identical protein to form a homodimer [goid 43496] [pmid 9111042] [evidence IDA]; Any process that modulates the frequency, rate or extent of protein heterodimerization, interacting selectively with a nonidentical protein to form a heterodimer [goid 43497] [pmid 9111042] [evidence IPI]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptosis [goid 43525] [pmid 15637643] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Programmed cell death that occurs in the developing retina [goid 46666] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells [goid 48147] [evidence IEA]; The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer [goid 51260] [evidence IEA]; The multiplication or reproduction of Sertoli cells, resulting in the expansion of the Sertoli cell population. A Sertoli cell is a supporting cell projecting inward from the basement membrane of seminiferous tubules [goid 60011] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 9111042] [evidence IPI]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 16608847] [evidence IDA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [evidence IEA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 9111042] [evidence IPI]; Interacting selectively with the BH3 domain of a protein of the Bcl-2 family. The BH3 domain is a potent death domain and has an important role in protein-protein interactions and in cell death [goid 51434] [evidence IEA]	Bax zeta	Bax zeta
Nucleic acid binding -> Other DNA-binding protein;Transferase -> Methyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling	Homo sapiens	RefSeq	ILMN_15958	ILMN_169515	MLL	NM_005933.2	NM_005933.2		4297	56550038	NM_005933.2	MLL	NP_005924.2	ILMN_1668683	2140349	S	14618	TGCTGTACTGTGAGCCCCTCCTCACTCTCTACCAACCCTAAACCCTGAGG	11	+	117900782-117900831	11q23.3d	"Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15640349] [evidence IDA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 10821850] [evidence TAS]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 15199122] [evidence IDA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]; The stages of blood cell formation that take place within the embryo [goid 35162] [pmid 15618964] [evidence TAS]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10821850] [evidence NAS]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 10821850] [evidence TAS]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives [goid 18024] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 11313484] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	TRX1; HRX; KMT2A; MLL/GAS7; ALL-1; CXXC7; MLL1A; HTRX1; FLJ11783	TRX1; HRX; CXXC7; HTRX1; FLJ11783; KMT2A; MLL/GAS7; ALL-1; MLL1A
Miscellaneous function -> Other miscellaneous function protein	Protein metabolism and modification -> Other protein metabolism;Developmental processes -> Other developmental process	Homo sapiens	RefSeq	ILMN_11651	ILMN_11651	FBXW4	NM_022039.3	NM_022039.3		6468	63079686	NM_022039.3	FBXW4	NP_071322.1	ILMN_1671427	4390239	S	1991	CCAATAGCCTCCTGGCACCAGCCAGACCTCACCCTTGACCAACCTCTCGG	10	-	103360582-103360631	10q24.32a	"Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA."	A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10945468] [evidence NAS]	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [pmid 10945468] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state [goid 16055] [evidence IEA]; The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. Morphogenesis pertains to the creation of form. A limb is an appendage of an animal used for locomotion or grasping [goid 30326] [pmid 10405324] [evidence NAS]; The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. For example a leg, arm or some types of fin [goid 60173] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	SHFM3; SHSF3; FBW4; FBWD4; DAC	SHFM3; SHSF3; FBWD4; DAC; FBW4
Transporter -> Other transporter;Transfer/carrier protein -> Other transfer/carrier protein	Intracellular protein traffic -> Nuclear transport	Homo sapiens	RefSeq	ILMN_21091	ILMN_21091	RANBP10	NM_020850.1	NM_020850.1		57610	40538735	NM_020850.1	RANBP10	NP_065901.1	ILMN_1667306	2480468	S	4959	GTTCCTTTGGTTGCTCACAACTCAGGTATGCACCCATGTGGCAGCCAGGC	16	-	66314802-66314851	16q22.1b	"Homo sapiens RAN binding protein 10 (RANBP10), mRNA."				KIAA1464; FLJ31165	KIAA1464; FLJ31165
Chaperone -> Other chaperones	Protein metabolism and modification -> Protein folding	Homo sapiens	RefSeq	ILMN_19727	ILMN_19727	DNAJC7	NM_003315.1	NM_003315.1		7266	4507712	NM_003315.1	DNAJC7	NP_003306.1	ILMN_1663616	3290037	S	1330	CTCGCTATGACAGTGGACAGGACCTAGATGAGGAGGGCATGAATATGGGT	17	-	37387399-37387448	17q21.2b	"Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), mRNA."		The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 8836031] [evidence TAS]	"Interacting selectvely with a heat shock protein, any protein synthesized or activated in response to heat shock [goid 31072] [evidence IEA]"	TTC2; TPR2; DANJC7	TTC2; TPR2; DANJC7
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member	Signal transduction -> Other signal transduction;Immunity and defense -> B-cell- and antibody-mediated immunity;Immunity and defense -> Macrophage-mediated immunity;Immunity and defense -> Natural killer cell mediated immunity	Homo sapiens	RefSeq	ILMN_173573	ILMN_173573	FCGR2A	NM_021642.2	NM_021642.2		2212	50511935	NM_021642.2	FCGR2A	NP_067674.2	ILMN_2289849	450762	I	1987	CCCCTTGGGGAAGACGAAGGGATGCTGCAGTTCCAAAAGAGAAGGACTCT	1	+	159755560-159755609	1q23.3a	"Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2139735] [evidence NAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17785206] [evidence IPI]; Interacting selectively with an immunoglobulin of an IgG isotype [goid 19864] [evidence IEA]	FCGR2A1; CDw32; CD32A; CD32; FcGR; FCG2; IGFR2; FCGR2; MGC30032; MGC23887	FCGR2A1; CDw32; CD32A; CD32; FcGR; FCG2; IGFR2; FCGR2; MGC30032; MGC23887
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2144	ILMN_167641	UMODL1	NM_173568.3	NM_173568.3		89766	145580581	NM_173568.3	UMODL1	NP_775839.3	ILMN_1665246	6860039	I	2161	GCGAGCCCCAGCCATAGGAACACTATCGGGGTGATAGGCACCACCTCCTC	21	+	42404562-42404611	21q22.3b	"Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		"Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Stops, prevents or reduces the activity of a protease, any enzyme catalyzes the hydrolysis peptide bonds [goid 30414] [evidence IEA]"
Nucleic acid binding -> Other RNA-binding protein;Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Other protein metabolism	Homo sapiens	RefSeq	ILMN_27274	ILMN_27274	RKHD1	NM_203304.1	NM_203304.1		399664	42558261	NM_203304.1	RKHD1	NP_976049.1	ILMN_2162465	1470288	S	1899	CTTTTTACCTCTTGTGTATATGTAGGGAATTTATAGGGAAATATGTACTT	19	-	1505854-1505903	19p13.3h	"Homo sapiens ring finger and KH domain containing 1 (RKHD1), mRNA."			Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	TINO; OK/SW-cl.4; RNF193; MEX3; KIAA2031	TINO; OK/SW-cl.4; MEX3; KIAA2031; RNF193
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4944	ILMN_163376	PLA2G12A	NM_030821.3	NM_030821.3		81579	34147692	NM_030821.3	PLA2G12A	NP_110448.2	ILMN_1714956	3310541	S	1460	AGGGAGCAACCCCAGGATAGCTAAGTGTTATGTAATATGCCTAGAAGGTG	4	-	110854288-110854337	4q25c	"Homo sapiens phospholipase A2, group XIIA (PLA2G12A), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 11031251] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [evidence IEA]; Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]"	"Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate; requires Ca2+ [goid 47498] [pmid 11031251] [evidence NAS]"	PLA2G12	PLA2G12
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_27834	ILMN_27834	TRIM41	NM_033549.3	NM_033549.3		90933	42516571	NM_033549.3	TRIM41	NP_291027.3	ILMN_1813027	4070397	I	3055	CATTTGGGGAGGCAGGCTGGGCCAAAGGGTAGAGCTGGGTAATAAATGTC	5	+	180594849-180594898	5q35.3g	"Homo sapiens tripartite motif-containing 41 (TRIM41), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17893151] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC31991; MGC1127; RINCK	MGC31991; MGC1127; RINCK
Nucleic acid binding -> Other RNA-binding protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19071	ILMN_19071	OGFOD2	NM_024623.1	NM_024623.1		79676	13375845	NM_024623.1	OGFOD2	NP_078899.1	ILMN_1704019	6350128	S	1720	GGCTCCTGGATGAGGGGGCCAGAGAGGAGTGAATAACTTCCCAGACACTT	12	+	122030181-122030230	12q24.31d	"Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA."		"The chemical reactions and pathways involving a specific protein, rather than of proteins in general. Includes protein modification [goid 19538] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from one donor, and two oxygen atoms is incorporated into a donor [goid 16702] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from 2-oxoglutarate and one other donor, and one atom of oxygen is incorporated into each donor [goid 16706] [evidence IEA]; Interacting selectively with L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species [goid 31418] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	DKFZp686H15154; FLJ13491; FLJ37501; MGC120436; MGC120434	DKFZp686H15154; MGC120436; MGC120434; FLJ13491; FLJ37501
		Homo sapiens	RefSeq	ILMN_137465	ILMN_16073	LOC374491	NR_002815.1	NR_002815.1		374491	84872100	NR_002815.1	LOC374491		ILMN_1673969	1780253	A	1454	AAGAACCGGAACTATGATTTGTGCCTTCCTTATTGCCTCCGAAATATTTT	13	+	24053799-24053848	13q12.12b	"Homo sapiens TPTE and PTEN homologous inositol lipid phosphatase pseudogene (LOC374491), non-coding RNA. XR_001339 XR_001340 XR_001341"
		Homo sapiens	RefSeq	ILMN_16073	ILMN_16073	LOC374491	NR_002815.1	NR_002815.1		374491	84872100	NR_002815.1	LOC374491		ILMN_2183424	5220601	S	2527	GACTTCCAATGACGTAGCTGGATCCGATTAAGTATAGTTTCCCCTTCCCC	13	+	24069625-24069674	13q12.12b	"Homo sapiens TPTE and PTEN homologous inositol lipid phosphatase pseudogene (LOC374491), non-coding RNA. XR_001339 XR_001340 XR_001341"
Nucleic acid binding -> Other RNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_21057	ILMN_21057	CUGBP2	NM_006561.2	NM_006561.2		10659	68303638	NM_006561.2	CUGBP2	NP_006552.2	ILMN_2400947	5390575	A	7318	CATGGACCACCTTGGGATACCGCAGCACCATCAACATCCGCCTTGCTGAT	10	+	11418045-11418094	10p14b-p14a	"Homo sapiens CUG triplet repeat, RNA binding protein 2 (CUGBP2), transcript variant 2, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"Selection of a splice site by components of the assembling spliceosome [goid 6376] [evidence IEA]; Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 9887331] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9887331] [evidence TAS]"	BRUNOL3; ETR-3; NAPOR	BRUNOL3; ETR-3; NAPOR
		Homo sapiens	RefSeq	ILMN_169431	ILMN_169431	EVX2	NM_001080458.1	NM_001080458.1		344191	122937318	NM_001080458.1	EVX2	NP_001073927.1	ILMN_2045369	4210349	S	481	CGCAAGAAGCCGGGCCATTATTCAGAGGCGGCCGCTGAGGCCGACATGAG	2	-	176656406-176656455	2q31.1h	"Homo sapiens even-skipped homeobox 2 (EVX2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_168962	ILMN_168962	TMEM183B	NM_001079809.1	NM_001079809.1		653659	119369511	NM_001079809.1	TMEM183B	NP_001073277.1	ILMN_2172269	5720364	S	1397	GCATTCAAAAGGAGTGGCCCTGTTTTCTGTGTTAAAACCCCATTTGGTGC	3	-	151182593-151182642	3q25.1a	"Homo sapiens transmembrane protein 183B (TMEM183B), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			C1orf37-DUP	C1orf37-DUP
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_19165	ILMN_19165	BACH1	NM_001011545.1	NM_001011545.1		571	59559716	NM_001011545.1	BACH1	NP_001011545.1	ILMN_1751149	5420524	I	2195	ATCGCAAGGCCAGGAGATGCGTTTGGTCTGTGCTGCATCTCAAGCAGGAC	21	+	29655232-29655281	21q21.3c	"Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16780588] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16780588] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9544839] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9479503] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_19165	ILMN_19165	BACH1	NM_001011545.1	NM_001011545.1		571	59559716	NM_001011545.1	BACH1	NP_001011545.1	ILMN_1807181	1010170	A	1288	GCATCTAGTGATAGGAGTAGTGTGGAGCGAGAAGTGGCAGAACACCTAGC	21	+	29621160-29621209	21q21.3c	"Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16780588] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16780588] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9544839] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9479503] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24245	ILMN_24245	TMEM144	NM_018342.3	NM_018342.3		55314	141801688	NM_018342.3	TMEM144	NP_060812.2	ILMN_1708110	1340026	S	2811	TTGTAGATTGGAGAACACCATGTAAGAGCTACTAAGCTCACCACCTTCCC	4	+	159395657-159395706	4q32.1d-q32.1e	"Homo sapiens transmembrane protein 144 (TMEM144), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ11155	FLJ11155
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9059	ILMN_162695	BTNL2	NM_019602.1	NM_019602.1		56244	9624968	NM_019602.1	BTNL2	NP_062548.1	ILMN_1688101	1740301	S	1156	TGGTTCCCACAGCCCCACGTGCCATGGAGGGACATGGAAGGAAAGACGAT	6	-	32472093-32472141:32473026-32473026	6p21.32b	"Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			BTL-II; HSBLMHC1	BTL-II; HSBLMHC1
Transcription factor -> Homeobox transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes	Homo sapiens	RefSeq	ILMN_28829	ILMN_28829	POU5F2	NM_153216.1	NM_153216.1		134187	23463325	NM_153216.1	POU5F2	NP_694948.1	ILMN_1815649	6330523	S	977	GTAGCCCACTCCTCTGCCCCAGCCACCACTCTGGGCCTCCTCAGATTTTA	5	-	93102039-93102088	5q15b	"Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	FLJ25680; DKFZp686P02123; SPRM-1	DKFZp686P02123; SPRM-1; FLJ25680
Transcription factor -> Other transcription factor	Nucleoside, nucleotide and nucleic acid metabolism;Immunity and defense -> B-cell- and antibody-mediated immunity	Homo sapiens	RefSeq	ILMN_14880	ILMN_14880	NFIL3	NM_005384.2	NM_005384.2		4783	52630428	NM_005384.2	NFIL3	NP_005375.2	ILMN_1707312	5420564	S	1732	CACTCAAGAGACTTATAGCCACACAACCAATCTCTGCTTCAGACTCTGGG	9	-	93211451-93211500	9q22.31a	"Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7565758] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 7565758] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 7565758] [evidence TAS]; Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism [goid 48511] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 7565758] [evidence TAS]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [pmid 1620116] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]"	IL3BP1; NF-IL3A; E4BP4; NFIL3A	IL3BP1; NF-IL3A; E4BP4; NFIL3A
Select regulatory molecule -> G-protein -> Small GTPase	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_24727	ILMN_24727	TRIM23	NM_001656.3	NM_001656.3		373	44955890	NM_001656.3	TRIM23	NP_001647.1	ILMN_1752741	1440543	I	1742	GGGACTGTATGAAGGGTTGGACTGGCTCTCACGGCAACTTGTAGCTGCTG	5	-	64923371-64923420	5q12.3b	"Homo sapiens tripartite motif-containing 23 (TRIM23), transcript variant alpha, mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [pmid 9671726] [evidence IDA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [pmid 9671726] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 15684077] [evidence IDA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 8700863] [evidence IDA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 15684077] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [pmid 8700863] [evidence IDA]; Increases the activity of an enzyme [goid 8047] [pmid 8473324] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with GDP, guanosine 5'-diphosphate [goid 19003] [pmid 8700863] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	RNF46; ARD1; ARFD1	RNF46; ARD1; ARFD1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15972	ILMN_15972	PEX3	NM_003630.1	NM_003630.1		8504	4505726	NM_003630.1	PEX3	NP_003621.1	ILMN_2057389	6860066	S	1540	CTGAGGAAAAATCTGTTGGAGACATAGGTCTAGGATGTGTGAAGTTTGGA	6	+	143852411-143852460	6q24.2a-q24.2b	"Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA."	"Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [evidence IEA]; A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 12924628] [evidence IMP]; The lipid bilayer surrounding a peroxisome [goid 5778] [evidence IEA]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 10430017] [evidence IDA]; Penetrating at least one phospholipid bilayer of a peroxisomal membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5779] [pmid 9657383] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [pmid 12924628] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules [goid 7031] [pmid 10958759] [evidence IMP]; The targeting of proteins into the peroxisomal membrane. The process is not well understood, but both signals and mechanism differ from those involved in peroxisomal matrix protein import [goid 45046] [pmid 15007061] [evidence IMP]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11883941] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10704444] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11883941] [evidence IPI]	TRG18	TRG18
Transcription factor -> Zinc finger transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_13581	ILMN_13581	ZNF280D	NM_001002844.1	NM_001002844.1		54816	50811874	NM_001002844.1	ZNF280D	NP_001002844.1	ILMN_1736555	770605	I	1523	AATGGTGGATAAGCTGCTGGTGCCTTAGTGTGAATCAAGGTAGTGCCACC	15	-	54779441-54779490	15q21.3d	"Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 3, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC61687; ZNF634; MGC21637; SUHW4	ZNF634; MGC61687; MGC21637; SUHW4
Cell adhesion molecule -> Cadherin;Cell junction protein -> Other cell junction protein	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion	Homo sapiens	RefSeq	ILMN_1266	ILMN_1266	DSC1	NM_004948.2	NM_004948.2		1823	13435362	NM_004948.2	DSC1	NP_004939.1	ILMN_2402640	4050328	A	3876	CTGTGGTTGCCACCTGCCATCTCCAAGCATTTGGACAACTAGCCCTGATG	18	-	26963542-26963591	18q12.1d	"Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1b, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 7679953] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Any specialized areas of the plasma membranes of adjacent cells where the membranes are 2-4 nm apart and penetrated by a connexon. This gap junction allows passage of small molecules and electric current. The variety in the properties of gap junctions is reflected in the number of connexins, the family of proteins which form the junction [goid 5921] [pmid 7679953] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; A specialised type of cell junction into which intermediate filaments of adjacent cells are inserted. This type of cell junction is characteristic of epithelia. Desmosomes are particularly conspicuous in tissues such as skin that have to withstand mechanical stress [goid 30057] [evidence IEA]"	"The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	CDHF1; DG2/DG3	CDHF1; DG2/DG3
Cell adhesion molecule;Extracellular matrix -> Extracellular matrix glycoprotein;Select calcium binding protein -> Annexin	Signal transduction -> Cell communication;Sensory perception -> Vision;Developmental processes -> Mesoderm development -> Skeletal development	Homo sapiens	RefSeq	ILMN_29187	ILMN_29187	FBLN5	NM_006329.2	NM_006329.2		10516	19743802	NM_006329.2	FBLN5	NP_006320.2	ILMN_2223941	4670441	S	2230	GCTGGCGGGGAACCCTGGGAGTAGCTAGTTTGCTTTTTGCGTACACAGAG	14	-	91405850-91405899	14q32.12a	"Homo sapiens fibulin 5 (FBLN5), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [pmid 10428823] [evidence TAS]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 10428823] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [pmid 10428823] [evidence TAS]"	Interacting selectively with an integrin [goid 5178] [pmid 10428823] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	ARMD3; UP50; DANCE; FLJ90059; EVEC	ARMD3; UP50; DANCE; FLJ90059; EVEC
Nucleic acid binding	Biological process unclassified	Homo sapiens	RefSeq	ILMN_172742	ILMN_172742	UBN1	NM_001079514.1	NM_001079514.1		29855	118572602	NM_001079514.1	UBN1	NP_001072982.1	ILMN_2399503	7160433	A	5828	TCTGAGCACTTACCGGGCGTGACCGTTTCTTAGGTGTGAGAGGGGCTGTG	16	+	4872218-4872267	16p13.3b	"Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10725330] [evidence TAS]"	"Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 10725330] [evidence TAS]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10725330] [evidence TAS]	VT4; VT	VT4; VT
Nucleic acid binding	Biological process unclassified	Homo sapiens	RefSeq	ILMN_172742	ILMN_172742	UBN1	NM_001079514.1	NM_001079514.1		29855	118572602	NM_001079514.1	UBN1	NP_001072982.1	ILMN_2290089	3870274	I	249	GAGGACCGCCGCGGGGGGACGTCTGCGGCCCGCGTCGGCGCTGGGGACAA	16	+	4838161-4838210	16p13.3b	"Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10725330] [evidence TAS]"	"Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 10725330] [evidence TAS]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10725330] [evidence TAS]	VT4; VT	VT4; VT
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_138028	ILMN_23416	ADAMTSL4	NM_025008.3	NM_025008.3		54507	83281434	NM_025008.3	ADAMTSL4	NP_079284.2	ILMN_1762294	780678	I	2831	GGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAAC	1	+	148797785-148797824:148797825-148797834	1q21.2b-q21.2c	"Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [evidence IEA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [evidence IEA]"	"Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 16364318] [evidence IDA]"	"Interacting selectively with any protease or peptidase [goid 2020] [pmid 16364318] [evidence IPI]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	TSRC1	TSRC1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_138028	ILMN_23416	ADAMTSL4	NM_025008.3	NM_025008.3		54507	83281434	NM_025008.3	ADAMTSL4	NP_079284.2	ILMN_1687035	10286	A	2729	CAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACA	1	+	148797683-148797732	1q21.2b-q21.2c	"Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [evidence IEA]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [evidence IEA]"	"Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 16364318] [evidence IDA]"	"Interacting selectively with any protease or peptidase [goid 2020] [pmid 16364318] [evidence IPI]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	TSRC1	TSRC1
Chaperone -> Other chaperones	Protein metabolism and modification -> Protein folding;Cell cycle	Homo sapiens	RefSeq	ILMN_168524	ILMN_168524	DNAJC2	NM_014377.1	NM_014377.1		27000	94538369	NM_014377.1	DNAJC2	NP_055192.1	ILMN_2174296	1770142	S	1545	CGTATGCGACAAGCATCTAAGAACACAGAGAAATCAACTGGTGGAGGTGG	7	-	102744596-102744645	7q22.1f	"Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA."			"Interacting selectvely with a heat shock protein, any protein synthesized or activated in response to heat shock [goid 31072] [evidence IEA]"	MPP11; MPHOSPH11; ZUO1; DNAJC2	MPP11; MPHOSPH11; ZUO1; DNAJC2
Chaperone	Protein metabolism and modification -> Proteolysis;Protein metabolism and modification -> Protein complex assembly;Other metabolism	Homo sapiens	RefSeq	ILMN_30324	ILMN_30324	NOB1	NM_014062.1	NM_014062.1		28987	7661531	NM_014062.1	NOB1	NP_054781.1	ILMN_1689110	1430544	S	1346	ACCCGATGGAAATAACAGGCGGGCTTCACGGTGCGGCTCTGTCCGCCCAT	16	-	68333595-68333644	16q22.1e	"Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15231747] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	ART-4; MST158; PSMD8BP1; MSTP158; NOB1P	ART-4; MST158; PSMD8BP1; MSTP158; NOB1P
Synthase and synthetase -> Other synthase/synthetase	Lipid, fatty acid and steroid metabolism -> Lipid metabolism	Homo sapiens	RefSeq	ILMN_28344	ILMN_28344	SGMS2	NM_152621.4	NM_152621.4		166929	142351982	NM_152621.4	SGMS2	NP_689834.1	ILMN_1685176	4640470	S	1946	GACAAGCCCCCACCCCGGGACTTTACTAATGAGCTTGTTAAAGAGGTGCC	4	+	109051377-109051426	4q25b	"Homo sapiens sphingomyelin synthase 2 (SGMS2), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 14685263] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 14685263] [evidence IDA]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the Golgi complex membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30173] [pmid 14685263] [evidence IDA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) [goid 6665] [evidence IEA]; The chemical reactions and pathways resulting in the formation of sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine [goid 6686] [pmid 14685263] [evidence IDA]"	"Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: a ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol [goid 33188] [evidence IEA]; Catalysis of the reaction: CDP-choline + N-acylsphingosine = CMP + sphingomyelin [goid 47493] [pmid 14685263] [evidence IDA]"	MGC26963; SMS2	SMS2; MGC26963
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27992	ILMN_183260	FLJ35894	XM_001131199.1	XM_001131199.1		283847	113426471	XM_001131199.1	FLJ35894	XP_001131199.1	ILMN_1697634	6560703	S	1615	ACCGTTAAAGAGCGCAAATCCAGTCCATGCTTGTTACAGGGAGAGTGAGC				16q22.1a	"PREDICTED: Homo sapiens hypothetical protein FLJ35894 (FLJ35894), mRNA."
Receptor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27471	ILMN_27471	GPR101	NM_054021.1	NM_054021.1		83550	16876434	NM_054021.1	GPR101	NP_473362.1	ILMN_1796431	7560332	S	1416	CTTCTGCAAGGAAAAGCCCCCGAAAGAAGATAGCCACCCAGACCTGCCCG	X	-	135940034-135940083	Xq26.3c	"Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	GPCR6	GPCR6
Signaling molecule -> Growth factor	Signal transduction -> Cell communication -> Ligand-mediated signaling;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_29697	ILMN_29697	AREG	NM_001657.2	NM_001657.2		374	22035683	NM_001657.2	AREG	NP_001648.1	ILMN_1804421	6520600	S	1194	AGTGTATTTATTTTACAGCTCATTAAACTTTTTTAACCAAACAGAAAAAA	4	+	75539546-75539590	4q13.3e	"Homo sapiens amphiregulin (AREG), mRNA."	"That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 3413110] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 2466334] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 2466334] [evidence TAS]"	"Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 2466334] [evidence TAS]"	MGC13647; AR; CRDGF; SDGF	MGC13647; CRDGF; AR; SDGF
Molecular function unclassified	Cell adhesion	Homo sapiens	RefSeq	ILMN_11375	ILMN_11375	CERCAM	NM_016174.3	NM_016174.3		51148	38679925	NM_016174.3	CERCAM	NP_057258.2	ILMN_1750563	7550048	S	2001	GATCCCATTCCCTAAAGGTCTCACAGCAAAGGAGCAGGACTCCCAGGCCC	9	+	130239121-130239170	9q34.11b	"Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10608765] [evidence NAS]"	"Any process involved in the controlled movement of a cell [goid 6928] [pmid 10608765] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a leukocyte to another cell via adhesion molecules [goid 7159] [pmid 10608765] [evidence TAS]; The chemical reactions and pathways resulting in the formation of lipopolysaccharides, any of a group of related, structurally complex components of the outer membrane of Gram-negative bacteria [goid 9103] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]	CEECAM1; CerCAM; MGC149620; GLT25D3; MGC149621	CEECAM1; MGC149621; CerCAM; MGC149620; GLT25D3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10300	ILMN_10300	CROP	NM_006107.2	NM_006107.2		51747	52426742	NM_006107.2	CROP	NP_006098.2	ILMN_2299072	5900129	A	1802	CAGACTAAGTGGGATTTCATTTTTACAACTCTGCTCTACTTAGCCTTTGG	17	+	46184912-46184961	17q21.33b	"Homo sapiens cisplatin resistance-associated overexpressed protein (CROP), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12565863] [evidence IDA]; A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy [goid 16607] [evidence IEA]"	"Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 10754390] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [pmid 10754390] [evidence IMP]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [pmid 10631324] [evidence IMP]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with pre-messenger RNA (pre-mRNA) or messenger RNA (mRNA) [goid 3729] [pmid 10631324] [evidence IMP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	OA48-18; LUC7A	OA48-18; LUC7A
Transporter -> Cation transporter	Transport -> Ion transport -> Cation transport;Homeostasis	Homo sapiens	RefSeq	ILMN_20716	ILMN_20716	SLC9A9	NM_173653.1	NM_173653.1		285195	27734934	NM_173653.1	SLC9A9	NP_775924.1	ILMN_1758315	510128	S	3223	GCTCCAGGCCTAGGTGCCCAGGCTATGATGAGTCTGCTTTTGAAGGAGGT	3	-	144467024-144467073	3q24a	"Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding a late endosome [goid 31902] [evidence IEA]; Organelle consisting of networks of 60nm tubules organized around the microtubule organizing centre in some cell types. They transport receptors from late endosomes back to the plasma membrane for recycling and are also involved in membrane trafficking [goid 55037] [pmid 15522866] [evidence IDA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; Any process that modulates the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion [goid 6885] [evidence IEA]"	Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15297] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: solute(out) + H+(in) = solute(in) + H+(out) [goid 15299] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) [goid 15385] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]	NHE9; Nbla00118; FLJ35613	NHE9; Nbla00118; FLJ35613
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24176	ILMN_24176	GFRA2	NM_001495.4	NM_001495.4		2675	47078234	NM_001495.4	GFRA2	NP_001486.4	ILMN_1656300	4490072	S	3264	CTCTGGTGGGGGCTCCTGATCCGCATCCAAGCTTAACCAAGGCTCCAATA	8	-	21593826-21593875	8p21.3b	"Homo sapiens GDNF family receptor alpha 2 (GFRA2), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Loosely bound to one surface of a membrane, but not integrated into the hydrophobic region [goid 19898] [pmid 10829012] [evidence TAS]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"	The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 9192898] [evidence TAS]	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 16167] [pmid 10829012] [evidence TAS]	NTNRA; TRNR2; RETL2; NRTNR-ALPHA; GDNFRB	NTNRA; RETL2; TRNR2; NRTNR-ALPHA; GDNFRB
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6410	ILMN_6410	C7ORF36	NM_020192.2	NM_020192.2		57002	142365298	NM_020192.2	C7orf36	NP_064577.1	ILMN_1793508	4120309	S	563	GTTGTAGAACACAGGAGCATGCACATTCAGAAAACCCAAGCCCCACATGG	7	+	39578703-39578752	7p14.1d	"Homo sapiens chromosome 7 open reading frame 36 (C7orf36), mRNA."				GK003	GK003
Signaling molecule -> Other signaling molecule	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15984	ILMN_15984	ANGPTL5	NM_178127.2	NM_178127.2		253935	31342398	NM_178127.2	ANGPTL5	NP_835228.1	ILMN_2166696	2360066	S	1532	CCCTGCATGCCTGGTCAATGGTCAGTCTGTGAAGAGCTGCAGTCACCTCC	11	-	101267403-101267452	11q22.1d	"Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]"
Nucleic acid binding -> Other RNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_8091	ILMN_8091	TNRC4	NM_007185.3	NM_007185.3		11189	71164893	NM_007185.3	TNRC4	NP_009116.3	ILMN_1681234	580368	S	2922	GGCCCGGACGCTGCCATCTCTCTTTCTGGGAGTTTAGACAATGTTGCCCT	1	-	149941779-149941828	1q21.3a	"Homo sapiens trinucleotide repeat containing 4 (TNRC4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11158314] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 11158314] [evidence NAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with pre-messenger RNA (pre-mRNA) or messenger RNA (mRNA) [goid 3729] [pmid 11158314] [evidence NAS]"	MGC57297; CAGH4; BRUNOL1; CELF3; ERDA4	CAGH4; BRUNOL1; CELF3; MGC57297; ERDA4
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15705	ILMN_15705	FAM119A	NM_145280.3	NM_145280.3		151194	31377537	NM_145280.3	FAM119A	NP_660323.2	ILMN_2049364	1090646	S	1457	AAAGCACCTGAAATCTGGCCGGATGCGGTGGCTCATGCCTGTAATCCCAC	2	-	208185337-208185386	2q33.3c	"Homo sapiens family with sequence similarity 119, member A (FAM119A), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			MGC45373	MGC45373
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Cell cycle -> Cell cycle control;Cell cycle -> Mitosis	Homo sapiens	RefSeq	ILMN_17244	ILMN_17244	CDK10	NM_003674.2	NM_003674.2		8558	32528262	NM_003674.2	CDK10	NP_003665.2	ILMN_1700611	6290711	I	186	GGATTTGGACACCCAGAAATAAGCGTGTCGAGAAGAGCACAAGCAGAGGA	16	+	88281672-88281721	16q24.3b	"Homo sapiens cyclin-dependent kinase (CDC2-like) 10 (CDK10), transcript variant 1, mRNA."		"The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Passage through a cell cycle control point late in G1 phase of the mitotic cell cycle just before entry into S phase; in most organisms studied, including budding yeast and animal cells, passage through start normally commits the cell to progressing through the entire cell cycle [goid 7089] [pmid 8208557] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 8208557] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; dependent on the binding of a regulatory cyclin subunit and full activity requires stimulatory phosphorylation by a CDK-activating kinase (CAK) [goid 4693] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; dependent on the binding of a regulatory cyclin subunit and full activity requires stimulatory phosphorylation by a CDK-activating kinase (CAK) [goid 4693] [pmid 8084611] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18242510] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	PISSLRE	PISSLRE
Signaling molecule -> Growth factor	Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_506	ILMN_506	BTBD11	NM_152322.2	NM_152322.2		121551	65786574	NM_152322.2	BTBD11	NP_689535.2	ILMN_1705066	6510608	A	2536	CTGTCACCTTCCTCCTCCCACTTCTGTATCCTCAGAGATGCTGCGTGGAT	12	+	106577350-106577399	12q23.3d	"Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	FLJ42845; FLJ33957	FLJ42845; FLJ33957
Signaling molecule -> Growth factor	Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_506	ILMN_506	BTBD11	NM_152322.2	NM_152322.2		121551	65786574	NM_152322.2	BTBD11	NP_689535.2	ILMN_1654153	3610608	I	8	GTCTCGTTAATGGAGAACACAGTCACAGGATCAAAAGGGCTAATTTCAGG	12	+	106552746-106552795	12q23.3d	"Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	FLJ42845; FLJ33957	FLJ42845; FLJ33957
Signaling molecule -> Other signaling molecule	Signal transduction -> Cell communication -> Ligand-mediated signaling	Homo sapiens	RefSeq	ILMN_12262	ILMN_12262	SFRP5	NM_003015.2	NM_003015.2		6425	8400734	NM_003015.2	SFRP5	NP_003006.1	ILMN_1790026	5890280	S	1574	CATCCTAGCCCCCCTTAGGAAAGGAGTTAGGGTCTCAGTGCCTCCAGCCA	10	-	99516771-99516820	10q24.2a	"Homo sapiens secreted frizzled-related protein 5 (SFRP5), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10072424] [evidence TAS]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 9391078] [evidence TAS]; Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns [goid 7163] [pmid 10072424] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10072424] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 10072424] [evidence TAS]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 10072424] [evidence TAS]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state [goid 16055] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	SARP3	SARP3
Molecular function unclassified	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_8872	ILMN_8872	MYEF2	NM_016132.3	NM_016132.3		50804	154146212	NM_016132.3	MYEF2	NP_057216.2	ILMN_1710329	520608	S	4181	GTGATATACCTTAATTTAGTGGGCTTTGGCAGGGCGGGGGAGGGGGAACG	15	-	46220093-46220142	15q21.1c	"Homo sapiens myelin expression factor 2 (MYEF2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]"	The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]"	MEF-2; FLJ11213; MSTP156; KIAA1341; MST156; HsT18564; MGC87325	FLJ11213; KIAA1341; MST156; MEF-2; MSTP156; HsT18564; MGC87325
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member	Signal transduction -> Cell surface receptor mediated signal transduction;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> Natural killer cell mediated immunity	Homo sapiens	RefSeq	ILMN_16527	ILMN_16527	KIR2DL5B	NM_001018081.1	NM_001018081.1		553128	66267726	NM_001018081.1	KIR2DL5B	NP_001018091.1	ILMN_1685629	5550017	S	1580	CCGCTGTTATCATTACCATGTCCACATAACCCCATCTGTTATCCACTGGG	19	+	96194-96243		"Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	KIR2DLX; KIR2DL5; KIR2DL5A; KIR2DL5.4; KIR2DL5.3; KIR2DL5.2	KIR2DLX; KIR2DL5; KIR2DL5A; KIR2DL5.4; KIR2DL5.3; KIR2DL5.2
Transfer/carrier protein -> Mitochondrial carrier protein	Transport -> Small molecule transport	Homo sapiens	RefSeq	ILMN_28181	ILMN_28181	SLC25A1	NM_005984.1	NM_005984.1		6576	21389314	NM_005984.1	SLC25A1	NP_005975.1	ILMN_1813671	6900440	S	1168	GCATTGTGGCTGTCAAATCCATGTGTCCCCCCTGTGGTCTGTGTGTGACA	22	-	17543460-17543509	22q11.21b	"Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, into, out of or within a mitochondrion [goid 6843] [evidence TAS]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, from one side of the membrane to the other [goid 15137] [pmid 8666394] [evidence TAS]"	SLC20A3; CTP	SLC20A3; CTP
Transfer/carrier protein	Electron transport -> Oxidative phosphorylation	Homo sapiens	RefSeq	ILMN_19252	ILMN_19252	COX17	NM_005694.1	NM_005694.1		10063	5031644	NM_005694.1	COX17	NP_005685.1	ILMN_2187718	630735	S	34	GAGGCTGGCATAGATTTGGCTGTCTCCGCTCATAGCTGCTTTTGGCGCGA	3	-	120878850-120878899	3q13.33a	"Homo sapiens COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX17), nuclear gene encoding mitochondrial protein, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9050918] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The region between the inner and outer lipid bilayers of the mitochondrial envelope [goid 5758] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 9050918] [evidence TAS]; The directed movement of copper (Cu) ions into, out of, within or between cells [goid 6825] [pmid 9050918] [evidence TAS]"	Assists in the delivery of copper ions to target proteins or compartments [goid 16531] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC117386; MGC104397	MGC117386; MGC104397
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_4184	ILMN_4184	ABHD4	NM_022060.2	NM_022060.2		63874	50658086	NM_022060.2	ABHD4	NP_071343.2	ILMN_1700633	3120014	S	2224	ACTGGGTGGTTCCCACTGCATGACCCTCTATCCCTGCCATCTGTCCCCAT	14	+	22150820-22150869	14q11.2e	"Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]"	"Catalysis of the hydrolysis of N-terminal amino acid residues from in a polypeptide chain [goid 4177] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FLJ12816	FLJ12816
Nucleic acid binding -> Helicase -> RNA helicase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_23318	ILMN_23318	SUPV3L1	NM_003171.2	NM_003171.2		6832	31543666	NM_003171.2	SUPV3L1	NP_003162.2	ILMN_1750008	5870040	S	2226	CCAGCCCCGATGCAGGAGAGCTGTCCCTTGCTTCCAGATTGGTGCAGCAA	10	+	70638607-70638656	10q21.3e	"Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 9925937] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 12466530] [evidence IDA]"	"The process by which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands [goid 32508] [pmid 12466530] [evidence IMP]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 12466530] [evidence IMP]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA helix [goid 3678] [pmid 12466530] [evidence IMP]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9925937] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	SUV3	SUV3
Transcription factor -> Zinc finger transcription factor	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_8641	ILMN_8641	ZBED4	NM_014838.2	NM_014838.2		9889	153791892	NM_014838.2	ZBED4	NP_055653.2	ILMN_1782129	5490014	S	4790	GCATCTCCACGCTCTGAAGCTGTCTTTCAAAATGTGTGCACTGACCCCCT	22	+	48667634-48667683	22q13.33a	"Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA."			"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]"
Select regulatory molecule -> Kinase modulator	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Signal transduction -> Cell communication;Protein targeting and localization -> Protein targeting	Homo sapiens	RefSeq	ILMN_10770	ILMN_10770	AKAP4	NM_139289.1	NM_139289.1		8852	21493038	NM_139289.1	AKAP4	NP_647450.1	ILMN_1734794	7100575	A	2510	CCTCAGGTTTCAGCTAAAGCAGCAGAGAAGGGGTACAGTGTAGGAGGTCT	X	-	49842445-49842494	Xp11.22c	"Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 2, mRNA."	"Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 9822690] [evidence TAS]; A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole [goid 5929] [evidence IEA]; An enzyme complex, composed of regulatory and catalytic subunits, that catalyzes protein phosphorylation. Inactive forms of the enzyme have two regulatory chains and two catalytic chains; activation by cAMP produces two active catalytic monomers and a regulatory dimer [goid 5952] [pmid 9822690] [evidence NAS]; A long, whiplike protrusion from the surface of a eukaryotic cell, whose undulations drive the cell through a liquid medium; similar in structure to a cilium. The flagellum is based on a 9+2 arrangement of microtubules [goid 9434] [pmid 9822690] [evidence IDA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 9822690] [evidence TAS]; The union of male and female gametes to form a zygote [goid 7338] [pmid 9822690] [evidence TAS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; Any process involved in the controlled movement of a sperm cell [goid 30317] [pmid 9822690] [evidence IMP]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any subunit of protein kinase A [goid 51018] [evidence ISS]	AKAP82; FSC1; HI; p82; hAKAP82	FSC1; HI; p82; hAKAP82; AKAP82
Select regulatory molecule -> Kinase modulator	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Signal transduction -> Cell communication;Protein targeting and localization -> Protein targeting	Homo sapiens	RefSeq	ILMN_10770	ILMN_10770	AKAP4	NM_139289.1	NM_139289.1		8852	21493038	NM_139289.1	AKAP4	NP_647450.1	ILMN_2253207	5560450	I	38	GCACTTCTCAGTTCCATCTAAAGGGGCACATCTCCCTTCTGGGTGTCACG	X	-	49851657-49851706	Xp11.22c	"Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 2, mRNA."	"Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 9822690] [evidence TAS]; A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole [goid 5929] [evidence IEA]; An enzyme complex, composed of regulatory and catalytic subunits, that catalyzes protein phosphorylation. Inactive forms of the enzyme have two regulatory chains and two catalytic chains; activation by cAMP produces two active catalytic monomers and a regulatory dimer [goid 5952] [pmid 9822690] [evidence NAS]; A long, whiplike protrusion from the surface of a eukaryotic cell, whose undulations drive the cell through a liquid medium; similar in structure to a cilium. The flagellum is based on a 9+2 arrangement of microtubules [goid 9434] [pmid 9822690] [evidence IDA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 9822690] [evidence TAS]; The union of male and female gametes to form a zygote [goid 7338] [pmid 9822690] [evidence TAS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon [goid 30030] [evidence IEA]; Any process involved in the controlled movement of a sperm cell [goid 30317] [pmid 9822690] [evidence IMP]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any subunit of protein kinase A [goid 51018] [evidence ISS]	AKAP82; FSC1; HI; p82; hAKAP82	FSC1; HI; p82; hAKAP82; AKAP82
Protease -> Cysteine protease	Protein metabolism and modification -> Proteolysis;Signal transduction	Homo sapiens	RefSeq	ILMN_8100	ILMN_8100	CAPN3	NM_173087.1	NM_173087.1		825	27765073	NM_173087.1	CAPN3	NP_775110.1	ILMN_2332691	4180762	A	2647	CCCCTACCCATCCTTGATCGGTCATGCCTAGCCTGACCCTTTAGTAAAGC	15	+	40491414-40491463	15q15.1d	"Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 3, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 7720071] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The myofibril assembly process by which the muscle actomyosin is organized into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs [goid 45214] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The myofibril assembly process by which the muscle actomyosin is organized into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs [goid 45214] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The myofibril assembly process by which the muscle actomyosin is organized into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs [goid 45214] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 9642272] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 9642272] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 7720071] [evidence TAS]"	"Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium [goid 4198] [evidence IEA]; Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium [goid 4198] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium [goid 4198] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium [goid 4198] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain by a mechanism using a cysteine residue at the enzyme active center, and requiring the presence of calcium [goid 4198] [pmid 9642272] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 7720071] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	MGC11121; CANP3; MGC4403; MGC14344; LGMD2A; p94; nCL-1; LGMD2; MGC10767; CANPL3	CANP3; MGC14344; p94; LGMD2; MGC10767; CANPL3; MGC11121; MGC4403; LGMD2A; nCL-1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15521	ILMN_15521	TIMM50	NM_001001563.1	NM_001001563.1		92609	48526508	NM_001001563.1	TIMM50	NP_001001563.1	ILMN_1752229	3610048	S	2131	TACAACAGCCTTGACCTCCCGGCTCAAGTGATCTCCAAGTGACCCTCCTG	19	+	44672927-44672976	19q13.2a	"Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The protein transport machinery of the mitochondrial inner membrane that contains three essential Tim proteins: Tim17 and Tim23 are thought to build a preprotein translocation channel while Tim44 interacts transiently with the matrix heat-shock protein Hsp70 to form an ATP-driven import motor [goid 5744] [pmid 15044455] [evidence IPI]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy [goid 16607] [pmid 16008839] [evidence IDA]"	"The process of removing one or more phosphoric residues from a protein [goid 6470] [pmid 15044455] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the mitochondrial membrane, the lipid bilayer surrounding a mitochondrion [goid 7006] [pmid 15044455] [evidence IMP]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the reaction: protein serine/threonine phosphate + H2O = protein serine/threonine + phosphate [goid 4722] [pmid 15044455] [evidence IDA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [pmid 15044455] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15044455] [evidence IPI]; Interacting selectively with any complex of RNA and protein [goid 43021] [pmid 16008839] [evidence IDA]	TIM50L; MGC102733	TIM50L; MGC102733
Ion channel -> Anion channel	Transport -> Ion transport -> Anion transport	Homo sapiens	RefSeq	ILMN_8600	ILMN_8600	CLCN7	NM_001287.3	NM_001287.3		1186	39725672	NM_001287.3	CLCN7	NP_001278.1	ILMN_1694731	2060088	S	3680	CCTCACAGGGCCCCAAGGTGTCCGAGTGTGTTGGGTCTGAACGCGAAATA	16	-	1435358-1435407	16p13.3e	"Homo sapiens chloride channel 7 (CLCN7), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]"	Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]	CLC-7; CLC7; FLJ39644; FLJ26686; OPTA2; FLJ46423	CLC-7; CLC7; FLJ39644; FLJ26686; OPTA2; FLJ46423
Phosphatase -> Nucleotide phosphatase	Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism	Homo sapiens	RefSeq	ILMN_19012	ILMN_19012	ENTPD4	NM_004901.2	NM_004901.2		9583	141802192	NM_004901.2	ENTPD4	NP_004892.1	ILMN_1806304	2900224	S	1850	TCTACAACCACTACCTGTTCTCTGGCTGCTTCCTGGTGGTGCTGCTGGCC	8	-	23346503-23346552	8p21.3a	"Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the Golgi complex membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30173] [pmid 9556635] [evidence IDA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of UDP, uridine (5'-)diphosphate [goid 6256] [pmid 9556635] [evidence IDA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: UDP + H2O = UMP + phosphate [goid 45134] [pmid 9556635] [evidence IDA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	LAP70; KIAA0392; NTPDase-4; UDPase; LYSAL1; LALP70	LAP70; KIAA0392; NTPDase-4; UDPase; LYSAL1; LALP70
Transferase -> Other transferase	Sulfur metabolism	Homo sapiens	RefSeq	ILMN_8537	ILMN_8537	CHST10	NM_004854.3	NM_004854.3		9486	50428923	NM_004854.3	CHST10	NP_004845.1	ILMN_1736828	270348	S	2597	AAGCCGCAGCGACCATTTCAGATACCGTCCACAGCCAGGACCGCTGAGAA	2	-	100374922-100374971	2q11.2d	"Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 9478973] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 9478973] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9478973] [evidence TAS]"	"Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate [goid 8146] [pmid 9478973] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	HNK1ST; HNK-1ST; MGC17148	HNK1ST; HNK-1ST; MGC17148
Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_23379	ILMN_23379	KRT24	NM_019016.1	NM_019016.1		192666	9506668	NM_019016.1	KRT24	NP_061889.1	ILMN_1770663	2850372	S	1547	GAGTGACTAAGACTATCGTAGAGGAGTTGGTGGATGGCAAGGTTGTCTCG	17	-	36108053-36108102	17q21.2a	"Homo sapiens keratin 24 (KRT24), mRNA."	"A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]"		The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]	MGC138173; MGC138169; FLJ20261	MGC138173; MGC138169; FLJ20261
Molecular function unclassified	Signal transduction -> Cell surface receptor mediated signal transduction;Signal transduction -> Intracellular signaling cascade;Homeostasis	Homo sapiens	RefSeq	ILMN_20059	ILMN_20059	SPSB3	NM_080861.3	NM_080861.3		90864	38679885	NM_080861.3	SPSB3	NP_543137.2	ILMN_1682864	2850433	S	1417	TGGAGCCCGCGTTGCTGTTCCCACAGGGCCTCGGTTTTTCCTAACTTGCT	16	-	1766791-1766840	16p13.3e	"Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA."		A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	SSB3; C16orf31	SSB3; C16orf31
Transcription factor -> Homeobox transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Other developmental process;Developmental processes -> Ectoderm development -> Neurogenesis;Developmental processes -> Mesoderm development -> Gut mesoderm development;Cell proliferation and differentiation;Oncogenesis	Homo sapiens	RefSeq	ILMN_9647	ILMN_177185	PROX1	NM_002763.3	NM_002763.3		5629	34147628	NM_002763.3	PROX1	NP_002754.2	ILMN_1752622	5360689	S	2845	GGCGGTTGGCTGAGGAAAACCCATGACACAGCACAACTCTACAGACAGTG	1	+	212276159-212276208	1q41a	"Homo sapiens prospero homeobox 1 (PROX1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [evidence IEA]; The process whose specific outcome is the progression of the lymphatic vasculature over time, from its formation to the mature structure [goid 1945] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation [goid 7398] [pmid 10080188] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 8812486] [evidence TAS]; The process whereby a relatively unspecialized cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium [goid 45446] [evidence IEA]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Functions to enable the transcription of specific, or specific sets, of genes by RNA polymerase II [goid 3704] [pmid 10080188] [evidence TAS]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]"
Transferase -> Acyltransferase	Protein metabolism and modification -> Protein modification -> Protein-lipid modification	Homo sapiens	RefSeq	ILMN_1517	ILMN_1517	PGGT1B	NM_005023.2	NM_005023.2		5229	27597101	NM_005023.2	PGGT1B	NP_005014.1	ILMN_2156786	130735	S	918	GTAGGGGGATTTGCCAAGTGGCCAGACAGTCATCCAGATGCTTTGCATGC	5	-	114576166-114576179:114580461-114580496	5q22.3b	"Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA."	"A heterodimeric enzyme, composed of an alpha and a beta subunit. Participates in the post-translational C-terminal modification of several small GTPases, allowing their targeting to the membrane [goid 5953] [pmid 8106351] [evidence TAS]"	The covalent attachment of a geranylgeranyl moiety to a protein amino acid [goid 18348] [pmid 8106351] [evidence TAS]	"Catalysis of the transfer of a prenyl group from one compound (donor) to another (acceptor) [goid 4659] [evidence IEA]; Catalysis of the reaction: geranylgeranyl diphosphate + protein-cysteine = S-geranylgeranyl-protein + diphosphate. This reaction is the formation of a thioether linkage between the C-1 atom of the geranylgeranyl group and a cysteine residue fourth from the C-terminus of the protein. The protein substrates have the C-terminal sequence CA1A2X, where the terminal residue, X, is preferably leucine and A2 should not be aromatic. Known substrates include most g-subunits of heterotrimeric G proteins and Ras-related GTPases such as members of the Ras and Rac/Rho families [goid 4662] [pmid 8106351] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	BGGI; GGTI	BGGI; GGTI
	Developmental processes -> Mesoderm development -> Muscle development	Homo sapiens	RefSeq	ILMN_3862	ILMN_3862	CSRP2	NM_001321.1	NM_001321.1		1466	4503100	NM_001321.1	CSRP2	NP_001312.1	ILMN_1660806	1990152	S	484	GAGCTGGAAAGCCCTGGCACAAAAACTGTTTCCGATGTGCAAAGTGTGGG	12	-	75777512-75777551:75778195-75778204	12q21.2b	"Homo sapiens cysteine and glycine-rich protein 2 (CSRP2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 96215313] [evidence NAS]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 96215313] [evidence NAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [evidence NAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence NAS]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [pmid 96215313] [evidence NAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [pmid 96215313] [evidence NAS]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	LMO5; CRP2; SmLIM	CRP2; LMO5; SmLIM
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17288	ILMN_17288	MAMLD1	NM_005491.2	NM_005491.2		10046	120952763	NM_005491.2	MAMLD1	NP_005482.2	ILMN_1680856	2320343	S	4269	GCTTGTGTGCACCCTCGTGGGGTTAAGGCGAGCTGTTCCTGGTTTAAAGC	X	+	149432768-149432817	Xq28c	"Homo sapiens mastermind-like domain containing 1 (MAMLD1), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	CXorf6; F18; CG1	CXorf6; F18; CG1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16716	ILMN_16716	TPD52L3	NM_001001874.1	NM_001001874.1		89882	49574211	NM_001001874.1	TPD52L3	NP_001001874.1	ILMN_1738395	6650370	I	1314	GGTAGAATCTCTCAGACTTAGGAACCAACTGCATGAGGCGGGGCTTGGGG	9	+	6321701-6321750	9p24.1b	"Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 2, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16631610] [evidence IPI]	MGC26757; MGC45374; hD55; NYD-SP25	MGC26757; MGC45374; hD55; NYD-SP25
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17611	ILMN_16716	TPD52L3	NM_001001874.1	NM_001001874.1		89882	49574211	NM_001001874.1	TPD52L3	NP_001001874.1	ILMN_1696867	6840288	A	266	CCACTCGACTTCTGAACTGGAGGATCTGACAGAGCCCGAGCAAAGAGAGC	9	+	6318640-6318689	9p24.1b	"Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 2, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16631610] [evidence IPI]	MGC26757; MGC45374; hD55; NYD-SP25	MGC26757; MGC45374; hD55; NYD-SP25
Signaling molecule -> Peptide hormone	Phosphate metabolism -> Regulation of phosphate metabolism;Signal transduction -> Cell surface receptor mediated signal transduction;Homeostasis -> Calcium ion homeostasis	Homo sapiens	RefSeq	ILMN_28725	ILMN_28725	STC2	NM_003714.2	NM_003714.2		8614	61676085	NM_003714.2	STC2	NP_003705.1	ILMN_1691884	1170170	S	5175	GTGGCCACTTCCTAAGGAGGAACAACCCCGTCTGATCTCAGAATTGGCAC	5	-	172674450-172674499	5q35.2a	"Homo sapiens stanniocalcin 2 (STC2), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 9753616] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 9753616] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus [goid 7584] [pmid 9753616] [evidence TAS]"	"The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [pmid 9723890] [evidence TAS]"	STC-2; STCRP	STCRP; STC-2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_176923	ILMN_176923	SNUPN	NM_001042581.1	NM_001042581.1		10073	110611148	NM_001042581.1	SNUPN	NP_001036046.1	ILMN_2364535	2340040	A	1362	CTCCCAAGTTGAAGGGTTCTTCCCATAGCCCAGACCACCCTGGATGCCTC	15	-	73677765-73677814	15q24.2a	"Homo sapiens snurportin 1 (SNUPN), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any of the numerous similar discrete openings in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined [goid 5643] [pmid 9670026] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10531003] [evidence EXP]"	"The formation and assembly from one or more snRNA and multiple protein components of a ribonucleoprotein complex that in involved in formation of the spliceosome [goid 387] [pmid 15130578] [evidence EXP]; The directed movement of a protein from the cytoplasm to the nucleus [goid 6606] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]"	"Interacting selectively with a 7-methylguanosine (m7G) moiety or derivative located at the 5' end of an RNA molecule [goid 339] [pmid 9670026] [evidence TAS]; Enables the directed movement of proteins into, out of, within or between cells [goid 8565] [evidence IEA]"	RNUT1; Snurportin1; KPNBL	RNUT1; Snurportin1; KPNBL
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_170609	ILMN_170609	STIL	NM_003035.2	NM_003035.2		6491	115298660	NM_003035.2	STIL	NP_003026.2	ILMN_2413650	6220050	A	4832	CTCGAGATACAGCTTTTTGCAGTATGGTGGGTTGGTTTTGGTGTAACATC	1	-	47488532-47488581	1p33d	"Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 8825637] [evidence TAS]"		SIL; DKFZp686O09161	SIL; DKFZp686O09161
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_13661	ILMN_13661	C10ORF35	NM_145306.2	NM_145306.2		219738	149588739	NM_145306.2	C10orf35	NP_660349.1	ILMN_1662470	2510253	S	864	ACATGTTCCGATGCCTGTGGAAGACATGCCGACGTCTCCTCTGCCTAGGG	10	+	71063149-71063198	10q21.3e	"Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]
Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_1973	ILMN_1973	SERPINI2	NM_006217.3	NM_006217.3		5276	59814587	NM_006217.3	SERPINI2	NP_006208.1	ILMN_1726225	2680370	S	1073	AGCTGCAACATCAACTGGCATACACATCCCTGTGATCATGAGTCTGGCTC	3	-	168646930-168646963:168649798-168649813	3q26.1f	"Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	Any process involved in the controlled movement of a cell [goid 6928] [pmid 10097100] [evidence TAS]	"Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [pmid 10097100] [evidence TAS]"	TSA2004; PI14; MEPI; PANCPIN	TSA2004; PI14; MEPI; PANCPIN
Nucleic acid binding -> Helicase	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8214	ILMN_8214	CXORF48	NM_001031705.1	NM_001031705.1		54967	72534699	NM_001031705.1	CXorf48	NP_001026875.1	ILMN_2317446	610220	A	1201	TGACTGGGCCAGCAATGATACTTACCTGTGGTTCATTCATCACTGGTTCC	X	-	134118159-134118208	Xq26.3a	"Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA."				FLJ20527; RP13-565O16.1	FLJ20527; RP13-565O16.1
Nucleic acid binding -> Reverse transcriptase	Nucleoside, nucleotide and nucleic acid metabolism -> Reverse transcription	Homo sapiens	RefSeq	ILMN_12565	ILMN_12565	LOC401398	NM_001023566.1	NM_001023566.1		401398	66472901	NM_001023566.1	LOC401398	NP_001018860.1	ILMN_2142255	4890608	S	1960	CACACACTAGGTCCTTTTGGAGGGTGGAAGTTAGGAGCAGGGAGAGGGTC	7	+	124606418-124606467	7q31.33a	"Homo sapiens hypothetical protein LOC401398 (LOC401398), mRNA."
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Neuronal activities -> Other neuronal activity	Homo sapiens	RefSeq	ILMN_28359	ILMN_28359	CAMK1G	NM_020439.2	NM_020439.2		57172	41327718	NM_020439.2	CAMK1G	NP_065172.1	ILMN_1804339	940747	S	2162	GGCCCTTCTCCCTGCCTCAATCTAAAAGCAGTGCCACACCCTCCAAAGTG	1	+	207853599-207853648	1q32.2b	"Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; An enzyme complex which in eukaryotes is composed of four different chains: alpha, beta, gamma, and delta. The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 8 to 12 subunits. Catalyzes the phosphorylation of proteins to O-phosphoproteins [goid 5954] [evidence IEA]; A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles [goid 12505] [evidence IEA]"	The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate, dependent on the presence of calcium-bound calmodulin [goid 4683] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	VWS1; CLICKIII; dJ272L16.1	VWS1; CLICKIII; dJ272L16.1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1769	ILMN_167980	GHDC	NM_032484.3	NM_032484.3		84514	31543054	NM_032484.3	GHDC	NP_115873.1	ILMN_1746378	2030754	S	2296	GCACACCGATGGTTTCCTGTATCACAGCCCAAAGAGGTTCTCTGGTGGCC	17	-	37594936-37594985	17q21.2b	"Homo sapiens GH3 domain containing (GHDC), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	D11LGP1; LGP1	D11LGP1; LGP1
Transcription factor -> Zinc finger transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_4827	ILMN_4827	ZXDB	NM_007157.3	NM_007157.3		158586	56550088	NM_007157.3	ZXDB	NP_009088.1	ILMN_1685547	1660722	S	4777	CCCCTCCCAGTCTACCCATCCAGCCTTCATGATTCATTCCTGTGTCAAGG	X	+	57639770-57639819	Xp11.1b	"Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	dJ83L6.1	dJ83L6.1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3858	ILMN_165130	TMEM169	NM_138390.2	NM_138390.2		92691	31982893	NM_138390.2	TMEM169	NP_612399.1	ILMN_1813796	670189	S	3081	TTGTCATGCTCCCCACAGAGAGCCCAGGACATTTGCCTGATGTATGGTGC	2	+	216675514-216675563	2q35b	"Homo sapiens transmembrane protein 169 (TMEM169), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ34263; DKFZp781L2456	FLJ34263; DKFZp781L2456
Miscellaneous function -> Structural protein	Developmental processes -> Ectoderm development -> Neurogenesis;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_5259	ILMN_5259	ABLIM2	NM_032432.3	NM_032432.3		84448	153792513	NM_032432.3	ABLIM2	NP_115808.3	ILMN_1758825	2260471	S	3082	AAGTCTGTTTCCCCGTCCGCAGTGGGTGTTGCCTCTTTGTGTGTGTCCCG	4	-	8018194-8018243	4p16.1d	"Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence NAS]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 17194709] [evidence IDA]"	"A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence NAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	KIAA1808; DKFZp761F129; MGC141918; FLJ39684	FLJ39684; KIAA1808; DKFZp761F129; MGC141918
Nucleic acid binding -> Nuclease;Nucleic acid binding -> Translation factor -> Translation release factor	Developmental processes -> Meiosis;Cell cycle -> Mitosis	Homo sapiens	RefSeq	ILMN_19741	ILMN_19741	PELO	NM_015946.4	NM_015946.4		53918	31880782	NM_015946.4	PELO	NP_057030.3	ILMN_1770811	5960358	S	2083	CCGCTTCCCTGTTCCCGAACTTTCTGACCAAGAGGGTGATTCCAGTTCTG	5	+	52133371-52133420	5q11.2b	"Homo sapiens pelota homolog (Drosophila) (PELO), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	The chemical reactions and pathways resulting in the formation of a protein. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein [goid 6412] [evidence IEA]	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	PRO1770; CGI-17	PRO1770; CGI-17
Nucleic acid binding	Lipid, fatty acid and steroid metabolism -> Steroid metabolism;Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_25783	ILMN_25783	ZCCHC13	NM_203303.2	NM_203303.2		389874	146219854	NM_203303.2	ZCCHC13	NP_976048.1	ILMN_1658074	1190093	S	535	CGCTGCGGCAAATCCCGACATCTAGCCAAGGAATGTCCCAGTGAGGTTAC	X	+	73441284-73441327:73441328-73441333	Xq13.2c	"Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA."			Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	Cnbp2; ZNF9L	ZNF9L; Cnbp2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19901	ILMN_19901	ARHGEF15	NM_173728.2	NM_173728.2		22899	32307165	NM_173728.2	ARHGEF15	NP_776089.2	ILMN_1792571	3610601	S	3897	CATGATACCAGAGGAGGCGAGGGACAGAGACAGCAAGGCAGACAGTGGCT	17	+	8166286-8166335	17p13.1c	"Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]"	"Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]; Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]"	MGC44868; FLJ13791; ARGEF15; KIAA0915; Vsm-RhoGEF	MGC44868; FLJ13791; ARGEF15; Vsm-RhoGEF; KIAA0915
		Homo sapiens	RefSeq	ILMN_179484	ILMN_179484	C14ORF166B	NM_001081002.1	NM_001081002.1		145497	124486653	NM_001081002.1	C14orf166B	NP_001074471.1	ILMN_2114190	6020722	S	1123	CCCGCAGCTGGACGTGGTATTCAAGGCAGTACAAGGCCTCTCTCCCAAGA	14	+	76396845-76396894	14q24.3c	"Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Microtubule binding motor protein	Intracellular protein traffic -> Other intracellular protein traffic	Homo sapiens	RefSeq	ILMN_174262	ILMN_174262	KIF3B	NM_004798.2	NM_004798.2		9371	31742486	NM_004798.2	KIF3B	NP_004789.1	ILMN_2081398	2450037	S	5614	GCCTCACATTTCCCACTTGAGGTTGAGGCGTACTGGAGACAACACCTCAG	20	+	30385986-30386035	20q11.21b	"Homo sapiens kinesin family member 3B (KIF3B), mRNA."	"Any complex that includes a dimer of molecules from the kinesin superfamily and any associated proteins, and moves towards the plus end of a microtubule [goid 5873] [pmid 7559760] [evidence TAS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [evidence IEA]"	"Movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins [goid 7018] [evidence IEA]; The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry [goid 7368] [pmid 9865700] [evidence TAS]; The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons [goid 8089] [pmid 7559760] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of movement along a microtubule toward the plus end, coupled to the hydrolysis of ATP (or GTP) [goid 8574] [pmid 7559760] [evidence TAS]"	KIAA0359; HH0048	KIAA0359; HH0048
Nucleic acid binding;Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Cell adhesion;Cell structure and motility	Homo sapiens	RefSeq	ILMN_14647	ILMN_14065	GIT2	NM_014776.2	NM_014776.2		9815	21237785	NM_014776.2	GIT2	NP_055591.2	ILMN_1760922	2810327	A	1135	GGAGACAGCAGGGCAGTTCTCTCTCGGGTTCAAAAGACAATGTGGAGCTC	12	-	108875408-108875422:108882035-108882069	12q24.11c	"Homo sapiens G protein-coupled receptor kinase interactor 2 (GIT2), transcript variant 3, mRNA."	That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10942595] [evidence IDA]	"Any process that modulates the frequency, rate or extent of G-protein coupled receptor protein signaling pathway activity [goid 8277] [pmid 10896954] [evidence TAS]; Any process that modulates the activity of the GTPase ARF [goid 32312] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Increases the rate of GTP hydrolysis by the GTPase ARF [goid 8060] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA0148; CAT-2; MGC760; DKFZp686G01261	KIAA0148; CAT-2; MGC760; DKFZp686G01261
Nucleic acid binding;Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Cell adhesion;Cell structure and motility	Homo sapiens	RefSeq	ILMN_14065	ILMN_14065	GIT2	NM_014776.2	NM_014776.2		9815	21237785	NM_014776.2	GIT2	NP_055591.2	ILMN_2355776	4540626	A	1040	CTCATCAACACGAAATCAGGGCAGACAGAAGTTAGCTCGGTTCAACGCCC	12	-	108882115-108882146:108883466-108883483	12q24.11c	"Homo sapiens G protein-coupled receptor kinase interactor 2 (GIT2), transcript variant 3, mRNA."	That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10942595] [evidence IDA]	"Any process that modulates the frequency, rate or extent of G-protein coupled receptor protein signaling pathway activity [goid 8277] [pmid 10896954] [evidence TAS]; Any process that modulates the activity of the GTPase ARF [goid 32312] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Increases the rate of GTP hydrolysis by the GTPase ARF [goid 8060] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA0148; CAT-2; MGC760; DKFZp686G01261	KIAA0148; CAT-2; MGC760; DKFZp686G01261
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16961	ILMN_16961	ZNF530	NM_020880.2	NM_020880.2		348327	40254939	NM_020880.2	ZNF530	NP_065931.2	ILMN_1761348	6380167	S	2649	GTGTGCATCAGTCACCACCCCAACATGCTCAGGGAGGCAGAGTTCTTCCA	19	+	62811134-62811183	19q13.43b	"Homo sapiens zinc finger protein 530 (ZNF530), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA1508	KIAA1508
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12303	ILMN_12303	C12ORF60	NM_175874.2	NM_175874.2		144608	31343594	NM_175874.2	C12orf60	NP_787070.1	ILMN_2234710	990162	S	703	GTCACCACATCTGAGAGAACCAGAAGTCCTCCAGGTTCTTCCAAAACCAC	12	+	14867635-14867684	12p12.3e	"Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA."				MGC47869	MGC47869
Transporter -> ATP-binding cassette (ABC) transporter	Transport	Homo sapiens	RefSeq	ILMN_13196	ILMN_13196	NECAP2	NM_018090.3	NM_018090.3		55707	39725692	NM_018090.3	NECAP2	NP_060560.1	ILMN_1749011	6100050	S	1630	TGTTGTCATGGAGCTGTGGGAGTTGGCACTCTGTCTGCTGGTGGCCCTCT	1	+	16658786-16658835	1p36.13f	"Homo sapiens NECAP endocytosis associated 2 (NECAP2), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 11256614] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; An invagination of the cell membrane of many eukaryotic cells, concerned in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane. During endocytosis it is converted into a coated vesicle. The coat is of clathrin [goid 5905] [evidence ISS]; A clathrin coat found on a vesicle [goid 30125] [evidence IEA]; A clathrin coat found on a vesicle [goid 30125] [evidence ISS]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence ISS]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]	FLJ10420; RP4-798A10.1	FLJ10420; RP4-798A10.1
		Homo sapiens	RefSeq	ILMN_11707	ILMN_11707	ASB1	NM_016114.3	NM_016114.3		51665	22208961	NM_016114.3	ASB1	NP_057198.1	ILMN_1683096	1820347	S	6716	GACGGTGGGAGGGTGAGATGTGAAGATGTGGGATGAACCTGGAATGAACG	2	+	239025546-239025595	2q37.3c	"Homo sapiens ankyrin repeat and SOCS box-containing 1 (ASB1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 11111040] [evidence IC ]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure [goid 30539] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cytokines [goid 42036] [pmid 11111040] [evidence NAS]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	MGC11165; KIAA1146; ASB-1	MGC11165; KIAA1146; ASB-1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16203	ILMN_16203	TP53INP1	NM_033285.2	NM_033285.2		94241	20127661	NM_033285.2	TP53INP1	NP_150601.1	ILMN_2214197	5420538	S	5201	GGCATGAGTTAGGGAGACTGAAGAGTATTGTAGACTGTACATGTGCCTTC	8	-	96007715-96007764	8q22.1c	"Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]"		TP53INP1A; Teap; p53DINP1; TP53DINP1; SIP; FLJ22139; DKFZp434M1317; TP53INP1B	TP53INP1A; Teap; p53DINP1; TP53DINP1; SIP; FLJ22139; DKFZp434M1317; TP53INP1B
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Neuronal activities -> Other neuronal activity;Cell structure and motility	Homo sapiens	RefSeq	ILMN_8711	ILMN_8711	GEFT	NM_182947.1	NM_182947.1		115557	33667114	NM_182947.1	GEFT	NP_891992.1	ILMN_2388965	4050131	A	2185	GGATGAAGATGAGCTGTAACTGGTGAAAACCATGGGGGTGGTGCTGACTC	12	+	56296926-56296944:56296945-56296975	12q13.3b	"Homo sapiens RAC/CDC42 exchange factor (GEFT), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]"	"Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]"	p63RhoGEF	p63RhoGEF
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4394	ILMN_4394	KLHL30	NM_198582.2	NM_198582.2		377007	128485502	NM_198582.2	KLHL30	NP_940984.2	ILMN_1780663	3940066	S	3357	CCAAAGGAACAAGAGCCCAGAGCTGAGGAGACCTTCGGTGGCAGATGGAT	2	+	238726086-238726135	2q37.3c	"Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	FLJ43374	FLJ43374
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12961	ILMN_12961	WDR61	NM_025234.1	NM_025234.1		80349	13376839	NM_025234.1	WDR61	NP_079510.1	ILMN_1665887	4120403	S	759	TGAGCGGCCATGCCTCCTGGGTGCTGAACGTTGCATTCTGTCCTGATGAC	15	-	76365454-76365503	15q25.1a	"Homo sapiens WD repeat domain 61 (WDR61), mRNA."				REC14	REC14
		Homo sapiens	RefSeq	ILMN_175412	ILMN_175412	REPS2	NM_001080975.1	NM_001080975.1		9185	125625321	NM_001080975.1	REPS2	NP_001074444.1	ILMN_2405797	1450112	A	1928	GTGGGCCAGCTTCTGCGGCAACCATGAAACCGCATCCAACAGTCCAAAAG	X	+	17063402-17063450:17066900-17066900	Xp22.2	"Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9422736] [evidence TAS]; The series of molecular signals generated as a consequence of an epidermal growth factor receptor binding to one of its physiological ligands [goid 7173] [pmid 9422736] [evidence TAS]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 9928989] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9422736] [evidence IPI]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	POB1	POB1
		Homo sapiens	RefSeq	ILMN_4405	ILMN_4405	RNU2-1	NR_002716.1	NR_002716.1		6066	84871999	NR_002716.1	RNU2-1		ILMN_2057836	4640082	S	3	CGCTTCTCGGCCTTTTGGCTAAGATCAAGTGTAGTATCTGTTCATCAGTT	17|NT_113932.1	-	31859-31908		"Homo sapiens RNA, U2 small nuclear 1 (RNU2-1), non-coding RNA."				U2	U2
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Immunity and defense -> Cytokine/chemokine mediated immunity;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_2029	ILMN_2029	CXCR3	NM_001504.1	NM_001504.1		2833	4504098	NM_001504.1	CXCR3	NP_001495.1	ILMN_1797975	4390202	S	1436	ACTTCATCTTCCCCAAGTGCGGGGAGTACAAGGCATGGCGTAGAGGGTGC	X	-	70752629-70752678	Xq13.1d	"Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10903743] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10741397] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9064356] [evidence TAS]"	"Any process involved in the controlled movement of a cell [goid 6928] [pmid 10741397] [evidence TAS]; The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 10903763] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 10942362] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 10903743] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with a C-C chemokine to initiate a change in cell activity. C-C chemokines do not have an amino acid between the first two cysteines of the characteristic four-cysteine motif [goid 16493] [evidence IEA]; Combining with a C-X-C chemokine to initiate a change in cell activity. A C-X-C chemokine has a single amino acid between the first two cysteines of the characteristic four cysteine motif [goid 16494] [evidence IEA]	CD182; IP10-R; IP10; Mig-R; CD183; CKR-L2; CMKAR3; GPR9; MigR	CD182; IP10-R; IP10; Mig-R; CKR-L2; CD183; CMKAR3; GPR9; MigR
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_13589	ILMN_13589	ZNF23	NM_145911.1	NM_145911.1		7571	23308736	NM_145911.1	ZNF23	NP_666016.1	ILMN_2147993	4260221	S	3022	CAGTTATGGAGGACTTGTATGGAGAAATTTAAGTCTTCACTGAGGGCCAC	16	-	70039171-70039220	16q22.3a	"Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	Zfp612; KOX16; ZNF359; ZNF612	KOX16; Zfp612; ZNF359; ZNF612
		Homo sapiens	RefSeq	ILMN_8907	ILMN_307889	EARS2	NR_003501.1	NR_003501.1		124454	134288910	NR_003501.1	EARS2		ILMN_1758750	1170156	S	3573	GGAGCAAGTATCTGTTGGGCTATCTGAGGTCCTGCTACCATTCCTTGGCC	16	-	23441081-23441130	16p12.1c	"Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), transcript variant 2, transcribed RNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]"	"The process of coupling glutamate to glutamyl-tRNA, catalyzed by glutamyl-tRNA synthetase. In tRNA aminoacylation, the amino acid is first activated by linkage to AMP and then transferred to either the 2'- or the 3'-hydroxyl group of the 3'- adenosine residue of the tRNA [goid 6424] [evidence IEA]; The process of coupling glutamate to glutamyl-tRNA, catalyzed by glutamyl-tRNA synthetase. In tRNA aminoacylation, the amino acid is first activated by linkage to AMP and then transferred to either the 2'- or the 3'-hydroxyl group of the 3'- adenosine residue of the tRNA [goid 6424] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu) [goid 4818] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu) [goid 4818] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]"	MSE1; KIAA1970	MSE1; KIAA1970
Nucleic acid binding -> Replication origin binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication	Homo sapiens	RefSeq	ILMN_25781	ILMN_25781	CDC45L	NM_003504.3	NM_003504.3		8318	34335230	NM_003504.3	CDC45L	NP_003495.1	ILMN_1670238	2320170	S	1720	GCTGAAAGCTGAGGATCGGAGCAAGTTTCTGGACGCACTTATTTCCCTCC	22	+	17886374-17886423	22q11.21c	"Homo sapiens CDC45 cell division cycle 45-like (S. cerevisiae) (CDC45L), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9660782] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15707391] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15226314] [evidence EXP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]"	"A signal transduction based surveillance mechanism that prevents the initiation of mitosis until DNA replication is complete, thereby ensuring that progeny inherit a full complement of the genome [goid 76] [pmid 9660782] [evidence TAS]; The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]; The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [pmid 12791985] [evidence EXP]; The process by which DNA replication is started; this involves the separation of a stretch of the DNA double helix, the recruitment of DNA polymerases and the initiation of polymerase action [goid 6270] [pmid 9660782] [evidence TAS]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10518787] [evidence IPI]	CDC45L2; CDC45; PORC-PI-1	CDC45L2; CDC45; PORC-PI-1
Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase	Other metabolism	Homo sapiens	RefSeq	ILMN_5671	ILMN_5671	FVT1	NM_002035.1	NM_002035.1		2531	4503816	NM_002035.1	FVT1	NP_002026.1	ILMN_2154053	160537	S	1835	CTCAAATGCTTAGGGAACGTTTCATTTCTCATTCATGGGGAAAGGCAGCC	18	-	59149216-59149265	18q21.33b	"Homo sapiens follicular lymphoma variant translocation 1 (FVT1), mRNA."
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_20594	ILMN_20594	C9ORF164	NM_182635.1	NM_182635.1		349236	32699075	NM_182635.1	C9orf164	NP_872441.1	ILMN_1733221	6280082	S	1514	AGCCTGCTGCTTCTCCTCCCTGCAGACTTAGCCAAGGAACTCCAAGATGC	9	-	91166609-91166658	9q22.2a	"Homo sapiens chromosome 9 open reading frame 164 (C9orf164), mRNA."				FLJ39737	FLJ39737
Molecular function unclassified	Developmental processes	Homo sapiens	RefSeq	ILMN_9808	ILMN_9808	FAM46B	NM_052943.2	NM_052943.2		115572	34147473	NM_052943.2	FAM46B	NP_443175.1	ILMN_1808011	4180324	S	2164	GAGCCCTCCTGCCTGGGAGCTTGTTCTTTGGAAGGTGCTGAGCCTGAATT	1	-	27204252-27204301	1p36.11a	"Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA."				MGC20845; RP11-344H11.8; MGC16491	MGC16491; MGC20845; RP11-344H11.8
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_175055	ILMN_175055	LOC650293	NM_001040071.1	NM_001040071.1		650293	91206427	NM_001040071.1	LOC650293	NP_001035160.1	ILMN_2079225	2570747	S	589	TCTTCAGATGGGAAGTATAAAGCCTTCTCCACCTGTGACTCTCACCTAGC					"Homo sapiens seven transmembrane helix receptor (LOC650293), mRNA."
		Homo sapiens	RefSeq	ILMN_14328	ILMN_14328	TRPC2	NR_002720.1	NR_002720.1		7221	84872003	NR_002720.1	TRPC2		ILMN_2127007	4610008	S	477	AGTGGACGTTTGCTCGCTCCAAGCTGTATCTGTTCTACTTCTGAGAGGGC	11	+	3612874-3612923	11p15.4d	"Homo sapiens transient receptor potential cation channel, subfamily C, member 2 (pseudogene) (TRPC2), non-coding RNA."
Transporter -> Other transporter	Phosphate metabolism -> Phosphate transport;Transport -> Phosphate transport;Transport -> Ion transport -> Cation transport;Homeostasis -> Other homeostasis activities	Homo sapiens	RefSeq	ILMN_13850	ILMN_13850	SLC34A2	NM_006424.2	NM_006424.2		10568	110611905	NM_006424.2	SLC34A2	NP_006415.2	ILMN_2184109	4490037	S	3527	ATCTAGGAAAGGAGGAGTGGGTGTAGCCGTGCAGCAAGATTGGGGCCTCC	4	+	25288842-25288891	4p15.2c	"Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 10329428] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10329428] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]"	"The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid [goid 6796] [pmid 10329428] [evidence TAS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of phosphate into, out of, within or between cells [goid 6817] [pmid 10329428] [evidence TAS]"	Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA];  [goid 15321] [pmid 10329428] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]	NPTIIb; NAPI-3B; FLJ90534; NAPI-IIb	NPTIIb; NAPI-3B; FLJ90534; NAPI-IIb
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1983	ILMN_1983	PCNXL2	NM_024938.2	NM_024938.2		80003	33946286	NM_024938.2	PCNXL2	NP_079214.2	ILMN_1660541	5700603	I	3210	CAGAGAAACTCACCACAGTGTTTTTCCTTGGATCCCATGATGCCCAGATG	1	-	231267947-231267996	1q42.2b-q42.2c	"Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			KIAA0435; FLJ11383	KIAA0435; FLJ11383
Cytoskeletal protein -> Actin family cytoskeletal protein -> Other actin family cytoskeletal protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_15741	ILMN_15741	ARPC1B	NM_005720.2	NM_005720.2		10095	22907055	NM_005720.2	ARPC1B	NP_005711.1	ILMN_2085760	130717	S	114	GAGCCCATCAGCTGCCACGCCTGGAACAAGGACCGCACCCAGATTGCCAT	7	+	98821298-98821337:98822244-98822253	7q22.1b	"Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A stable protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5), and functions in the nucleation of branched actin filaments [goid 5885] [pmid 9230079] [evidence TAS]"	"Any process involved in the controlled movement of a cell [goid 6928] [pmid 9230079] [evidence TAS]; Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament [goid 30833] [evidence IEA]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 9230079] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]"	p41-ARC; ARC41; p40-ARC	p41-ARC; ARC41; p40-ARC
Synthase and synthetase -> Synthetase;Ligase -> Other ligase	Amino acid metabolism -> Amino acid biosynthesis;Nitrogen metabolism	Homo sapiens	RefSeq	ILMN_25881	ILMN_26367	GLUL	NM_001033056.1	NM_001033056.1		2752	74271825	NM_001033056.1	GLUL	NP_001028228.1	ILMN_1653496	7550392	A	2955	CACTGGAGTGATGTTGCTGACCAGCCGTTTCCTGTACCTCTCTAAGTTGG	1	-	180618492-180618541	1q25.3c	"Homo sapiens glutamate-ammonia ligase (glutamine synthetase) (GLUL), transcript variant 3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]"	"The chemical reactions and pathways resulting in the formation of glutamine, 2-amino-4-carbamoylbutanoic acid [goid 6542] [evidence IEA]; The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds; includes nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium [goid 6807] [evidence IEA]"	"Catalysis of the reaction: ATP + L-glutamate + NH3 = ADP + phosphate + L-glutamine [goid 4356] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]"	GLNS; GS; PIG59; PIG43	GLNS; GS; PIG59; PIG43
Synthase and synthetase -> Synthetase;Ligase -> Other ligase	Amino acid metabolism -> Amino acid biosynthesis;Nitrogen metabolism	Homo sapiens	RefSeq	ILMN_26367	ILMN_26367	GLUL	NM_001033056.1	NM_001033056.1		2752	74271825	NM_001033056.1	GLUL	NP_001028228.1	ILMN_1765208	130392	I	127	TCGTGGTGGGGCCTTCGGAGCAATCGTCCTGGTTCTGGCGATGGTTGAGA	1	-	180626955-180627004	1q25.3c	"Homo sapiens glutamate-ammonia ligase (glutamine synthetase) (GLUL), transcript variant 3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]"	"The chemical reactions and pathways resulting in the formation of glutamine, 2-amino-4-carbamoylbutanoic acid [goid 6542] [evidence IEA]; The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds; includes nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium [goid 6807] [evidence IEA]"	"Catalysis of the reaction: ATP + L-glutamate + NH3 = ADP + phosphate + L-glutamine [goid 4356] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]"	GLNS; GS; PIG59; PIG43	GLNS; GS; PIG59; PIG43
Oxidoreductase -> Dehydrogenase	Carbohydrate metabolism -> Tricarboxylic acid pathway	Homo sapiens	RefSeq	ILMN_4304	ILMN_4304	MDH1	NM_005917.2	NM_005917.2		4190	21735619	NM_005917.2	MDH1	NP_005908.1	ILMN_1656913	3390603	S	838	CCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCC	2	+	63686024-63686031:63686577-63686618	2p15a	"Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15565635] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8786100] [evidence TAS]"	"The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle [goid 6099] [evidence IEA]; The chemical reactions and pathways involving malate, the anion of hydroxybutanedioic acid, a chiral hydroxydicarboxylic acid. The (+) enantiomer is an important intermediate in metabolism as a component of both the TCA cycle and the glyoxylate cycle [goid 6108] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells [goid 44262] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Catalysis of the oxidative decarboxylation of malate with the concomitant production of pyruvate [goid 4470] [pmid 8786100] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: (S)-malate + NAD+ = oxaloacetate + NADH + H+. Also oxidizes some other 2-hydroxydicarboxylic acids [goid 30060] [evidence IEA]; Catalysis of the reaction: (S)-malate + NAD+ = oxaloacetate + NADH + H+. Also oxidizes some other 2-hydroxydicarboxylic acids [goid 30060] [pmid 15565635] [evidence EXP]"	MDH-s; MGC:1375; MOR2; MDHA	MOR2; MDH-s; MGC:1375; MDHA
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_21424	ILMN_21424	C6ORF125	NM_032340.2	NM_032340.2		84300	142357568	NM_032340.2	C6orf125	NP_115716.1	ILMN_1790461	6520692	S	244	ACAAACACAAGTACCCTCGCCCCAGAGACACCAGCTTCAGTGGCCTGTCG	6	-	33776229-33776268:33777101-33777110	6p21.31f	"Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA."				MGC14833; bA6B20.2	MGC14833; bA6B20.2
Signaling molecule -> Membrane-bound signaling molecule;Cell adhesion molecule -> Other cell adhesion molecule	Biological process unclassified	Homo sapiens	RefSeq	ILMN_167548	ILMN_167548	TSPAN12	NM_012338.3	NM_012338.3		23554	48255911	NM_012338.3	TSPAN12	NP_036470.1	ILMN_2194106	3830193	S	2246	AAGCTTATCTTTGCCTTCTCCAAACAAGAAGCAATAGTCTCCAAGTCAAT	7	-	120214878-120214927	7q31.31d	"Homo sapiens tetraspanin 12 (TSPAN12), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 10719184] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10719184] [evidence TAS]"			TM4SF12; NET-2	TM4SF12; NET-2
Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_182779	ILMN_182779	DMRTC2	NM_001040283.1	NM_001040283.1		63946	94536829	NM_001040283.1	DMRTC2	NP_001035373.1	ILMN_2178771	5130398	S	1078	CTGCTGGAGGAAGAGGATTCCAGCCTGTTGGCCCCTGTCTTCGACCCAGC	19	+	47047495-47047544	19q13.2c	"Homo sapiens DMRT-like family C2 (DMRTC2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that establishes and transmits the specification of sexual status of an individual organism [goid 7530] [evidence IEA]; The establishment of the sex of an organism by physical differentiation [goid 7548] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
Transfer/carrier protein -> Other transfer/carrier protein	Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport;Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid binding;Coenzyme and prosthetic group metabolism -> Vitamin/cofactor transport;Transport -> Vitamin/cofactor transport;Signal transduction -> Cell communication -> Steroid hormone-mediated signaling;Developmental processes -> Ectoderm development	Homo sapiens	RefSeq	ILMN_11289	ILMN_11289	RBP1	NM_002899.2	NM_002899.2		5947	8400726	NM_002899.2	RBP1	NP_002890.1	ILMN_1656837	6650731	S	382	CAGTGAGCTGGGACGGAGACAAGCTCCAGTGTGTGCAGAAGGGTGAGAAG	3	-	140719986-140720035	3q23a	"Homo sapiens retinol binding protein 1, cellular (RBP1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A [goid 42572] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Interacting selectively with a lipid [goid 8289] [evidence IEA]; Interacting selectively with retinal, one of the forms of vitamin A. Retinal plays an important role in the visual process in most vertebrates, combining with opsins to form visual pigments in the retina [goid 16918] [evidence IEA]; Interacting selectively with retinol, vitamin A1, 2,6,6-trimethyl-1-(9'-hydroxy-3',7'-dimethylnona-1',3',5',7'-tetraenyl)cyclohex-1-ene, one of the three components that makes up vitamin A. Retinol is an intermediate in the vision cycle and it also plays a role in growth and differentiation [goid 19841] [evidence IEA]"	RBPC; CRBP1; CRBP; CRABP-I	RBPC; CRBP1; CRBP; CRABP-I
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Signal transduction;Developmental processes;Cell cycle -> Cell cycle control;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_14185	ILMN_21495	E2F6	NM_198256.2	NM_198256.2		1876	109637794	NM_198256.2	E2F6	NP_937987.2	ILMN_1656196	7510707	A	2100	TGTACCTTGCCCTCTCTCCAGCTCTGCTCCCACATTTTCACATACCTAGC	2	-	11503042-11503091	2p25.1b	"Homo sapiens E2F transcription factor 6 (E2F6), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]"	"Any process that regulates transcription such that the target genes are transcribed during the G1/S phase of the mitotic cell cycle [goid 83] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 9501179] [evidence TAS]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; Any process that regulates transcription such that the target genes are transcribed during the G1/S phase of the mitotic cell cycle [goid 83] [evidence IEA]; Any process that regulates transcription such that the target genes are transcribed during the G1/S phase of the mitotic cell cycle [goid 83] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [pmid 9501179] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]	E2F-6; MGC111545	E2F-6; MGC111545
Ion channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_28667	ILMN_28667	CATSPER2	NM_054020.2	NM_054020.2		117155	26051221	NM_054020.2	CATSPER2	NP_473361.1	ILMN_2403542	1990170	A	515	GGCCGGATGGGTCCTTGAGTGTCCTCTCTTCAAAAACTTCATCATCTTCC	15	-	41726578-41726608:41726784-41726802	15q15.3a	"Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 1, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole [goid 5929] [evidence IEA]; A long, whiplike protrusion from the surface of a eukaryotic cell, whose undulations drive the cell through a liquid medium; similar in structure to a cilium. The flagellum is based on a 9+2 arrangement of microtubules [goid 9434] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Long whiplike or feathery structures borne either singly or in groups by the motile cells of many bacteria and unicellular eukaryotes and by the motile male gametes of many eukaryotic organisms, which propel the cell through a liquid medium [goid 19861] [evidence IEA]"	"Cell motility due to movement of cilia or flagella [goid 1539] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy) [goid 9566] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process involved in the controlled movement of a sperm cell [goid 30317] [evidence IEA]"	Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of facilitated diffusion of a calcium (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5262] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	MGC33346	MGC33346
Hydrolase	Protein metabolism and modification -> Other protein metabolism	Homo sapiens	RefSeq	ILMN_29828	ILMN_29828	ATG4C	NM_032852.2	NM_032852.2		84938	30410843	NM_032852.2	ATG4C	NP_116241.2	ILMN_2383727	2970528	A	1096	AGACTTGGTGGAGAAAGAACCAACACCGACTACTTAGAATTTGTGAAGGG	1	+	63067388-63067435:63072297-63072298	1p31.3c	"Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 7, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12446702] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12446702] [evidence ISS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12446702] [evidence ISS]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 12446702] [evidence ISS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm [goid 45] [pmid 12446702] [evidence ISS]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 12446702] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The process of directing proteins towards a membrane using signals contained within the protein [goid 6612] [pmid 12446702] [evidence ISS]; The process of directing proteins towards the vacuole using signals contained within the protein [goid 6623] [pmid 12446702] [evidence ISS]; The process by which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation [goid 6914] [pmid 12446702] [evidence IGI]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The process by which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation [goid 6914] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [pmid 12446702] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12446702] [evidence ISS]; Interacting selectively with microtubules, filaments composed of tubulin monomers [goid 8017] [pmid 12446702] [evidence ISS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [pmid 12446702] [evidence IDA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 8234] [evidence IEA]"	FLJ14867; AUTL3; APG4C; APG4-C; AUTL1	FLJ14867; AUTL3; AUTL1; APG4C; APG4-C
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9697	ILMN_9697	C18ORF55	NM_014177.1	NM_014177.1		29090	7661809	NM_014177.1	C18orf55	NP_054896.1	ILMN_2182531	6040475	S	982	GGCGTGGACTCGCTACTCCGTTCTTCACAGCTGCCTTCCAGAATGTGTTC	18	+	69976731-69976780	18q22.3c	"Homo sapiens chromosome 18 open reading frame 55 (C18orf55), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope [goid 31966] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"		HSPC154	HSPC154
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7634	ILMN_7634	MTO1	NM_133645.1	NM_133645.1		25821	19882216	NM_133645.1	MTO1	NP_598400.1	ILMN_1748147	2760671	I	2872	CACAGTGTGGATGGATACTTATTTGGTGACCTAGTTATGGGAGAATTGAG	6	+	74267807-74267856	6q13c	"Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"The process by which a pre-tRNA molecule is converted to a mature tRNA, ready for addition of an aminoacyl group [goid 8033] [evidence IEA]"	"Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]"	CGI-02	CGI-02
Protease -> Serine protease;Defense/immunity protein -> Complement component	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Complement-mediated immunity	Homo sapiens	RefSeq	ILMN_17609	ILMN_17609	PRSSL1	NM_214710.2	NM_214710.2		400668	141802910	NM_214710.2	PRSSL1	NP_999875.1	ILMN_1673605	2360603	S	771	TGTACACGCAGGTGTCCGCCTTTGTGGCCTGGATCTGGGACGTGGTTCGG				19p13.3j	"Homo sapiens protease, serine-like 1 (PRSSL1), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]"	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	UNQ782	UNQ782
Oxidoreductase -> Peroxidase	Lipid, fatty acid and steroid metabolism -> Steroid metabolism;Immunity and defense -> Stress response;Immunity and defense -> Detoxification;Immunity and defense -> Antioxidation and free radical removal	Homo sapiens	RefSeq	ILMN_33147	ILMN_33147	GPX4	NM_001039847.1	NM_001039847.1		2879	90903237	NM_001039847.1	GPX4	NP_001034936.1	ILMN_2378952	6520128	A	629	AGTTCCTCATCGACAAGAACGGCTGCGTGGTGAAGCGCTACGGACCCATG	19	+	1057397-1057446	19p13.3i	"Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 9705830] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]"	"Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic chromatin [goid 6325] [evidence IEA]; The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [pmid 8039723] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 9705830] [evidence TAS]"	"Catalysis of the reaction: 2 glutathione + H2O2 = oxidized glutathione + 2 H2O [goid 4602] [evidence IEA]; Catalysis of the reaction: 2 glutathione + H2O2 = oxidized glutathione + 2 H2O [goid 4602] [pmid 9705830] [evidence TAS]; Interacting selectively with selenium (Se) [goid 8430] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: a lipid hydroperoxide + 2 reduced glutathione = 2 H2O + lipid + 2 oxidized glutathione [goid 47066] [evidence IEA]"	PHGPx; snPHGPx; snGPx; MCSP	PHGPx; snPHGPx; snGPx; MCSP
Oxidoreductase -> Peroxidase	Lipid, fatty acid and steroid metabolism -> Steroid metabolism;Immunity and defense -> Stress response;Immunity and defense -> Detoxification;Immunity and defense -> Antioxidation and free radical removal	Homo sapiens	RefSeq	ILMN_137100	ILMN_33147	GPX4	NM_001039847.1	NM_001039847.1		2879	90903237	NM_001039847.1	GPX4	NP_001034936.1	ILMN_1734353	2600382	S	551	GATCCAACCCAAGGGCAAGGGCATCCTGGGAAATGCCATCAAGTGGAACT	19	+	1056776-1056808:1057241-1057257	19p13.3i	"Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 9705830] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]"	"Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic chromatin [goid 6325] [evidence IEA]; The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [pmid 8039723] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 9705830] [evidence TAS]"	"Catalysis of the reaction: 2 glutathione + H2O2 = oxidized glutathione + 2 H2O [goid 4602] [evidence IEA]; Catalysis of the reaction: 2 glutathione + H2O2 = oxidized glutathione + 2 H2O [goid 4602] [pmid 9705830] [evidence TAS]; Interacting selectively with selenium (Se) [goid 8430] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: a lipid hydroperoxide + 2 reduced glutathione = 2 H2O + lipid + 2 oxidized glutathione [goid 47066] [evidence IEA]"	PHGPx; snPHGPx; snGPx; MCSP	PHGPx; snPHGPx; snGPx; MCSP
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_163175	ILMN_163175	C6ORF48	NM_001040437.1	NM_001040437.1		50854	94681054	NM_001040437.1	C6orf48	NP_001035527.1	ILMN_2285708	1190082	I	338	TGCCATGTTGTCCAGGCTGGTCTCTACTCCTGGGCTCAAGCAGTCCTCCT	6	+	31912191-31912240	6p21.32b	"Homo sapiens chromosome 6 open reading frame 48 (C6orf48), transcript variant 1, mRNA."				G8; D6S57	G8; D6S57
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_163175	ILMN_163175	C6ORF48	NM_001040437.1	NM_001040437.1		50854	94681054	NM_001040437.1	C6orf48	NP_001035527.1	ILMN_2391765	7150017	A	551	GTGATTCCTGCAACTTGACCTTCAGGCTGGGAGAGGTGGAGAGCCATGCC	6	+	31913122-31913171	6p21.32b	"Homo sapiens chromosome 6 open reading frame 48 (C6orf48), transcript variant 1, mRNA."				G8; D6S57	G8; D6S57
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_164474	ILMN_164474	UEVLD	NM_001040697.1	NM_001040697.1		55293	103472010	NM_001040697.1	UEVLD	NP_001035787.1	ILMN_2408968	6650592	A	1718	CTGTTCTTTAAATCTACAGCAGGGGTAAACATTCATCTGCAGTGTGCATC	11	-	18510171-18510220	11p15.1c	"Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA."		"The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells [goid 44262] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells [goid 44262] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP [goid 16616] [evidence IEA]; Catalysis of ATP-dependent isopeptide bond formation between the carboxy-terminal residues of a small conjugating protein such as ubiquitin or a ubiquitin-like protein, and a substrate lysine residue. This function may be performed alone or in conjunction with an E3, ubiquitin-like protein ligase [goid 19787] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP [goid 16616] [evidence IEA]"	ATTP; FLJ11068; UEV3	ATTP; FLJ11068; UEV3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17343	ILMN_182117	MKI67	NM_002417.3	NM_002417.3		4288	103472004	NM_002417.3	MKI67	NP_002408.3	ILMN_1734827	20364	S	12312	CCTTAGGCAGGCACCTCCAACCACCACACACTCCCTGCTGTTTTCCCTGC	10	-	129785235-129785284	10q26.2d	"Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]"	"The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 8227122] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11342549] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	KIA; Ki-67	KIA; Ki-67
Transcription factor -> Transcription cofactor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling	Homo sapiens	RefSeq	ILMN_11754	ILMN_11754	CBFA2T3	NM_005187.4	NM_005187.4		863	28872802	NM_005187.4	CBFA2T3	NP_005178.4	ILMN_1657627	630053	A	3546	TCTCGGCCCCATCGCCCCACCGCAGCTACTCCCCTTTCTTCCAAACTTTT	16	-	87469437-87469486	16q24.3a	"Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 9447981] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	ZMYND4; MTGR2; MTG16; ETO2	ZMYND4; MTGR2; MTG16; ETO2
		Homo sapiens	RefSeq	ILMN_177757	ILMN_177757	LIPK	NM_001080518.1	NM_001080518.1		643414	122937475	NM_001080518.1	LIPK	NP_001073987.1	ILMN_2204467	1230368	S	922	TGGGGAAACTCTGATCAGAACATGATGCACTTCCATCAGCTTACACCTCC	10	+	90493020-90493058:90502254-90502264	10q23.31b	"Homo sapiens lipase, family member K (LIPK), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]"	"Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	bA186O14.2; LIPL2	bA186O14.2; LIPL2
		Homo sapiens	RefSeq	ILMN_34253	ILMN_177757	LIPK	NM_001080518.1	NM_001080518.1		643414	122937475	NM_001080518.1	LIPK	NP_001073987.1	ILMN_1712141	1410215	S	958	CAGCTTACACCTCCTTTATACAACATTACTAAGATGGAAGTTCCAACAGC	10	+	90493056-90493058:90502254-90502300	10q23.31b	"Homo sapiens lipase, family member K (LIPK), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]"	"Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	bA186O14.2; LIPL2	bA186O14.2; LIPL2
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10156	ILMN_10156	ZNF554	NM_152303.2	NM_152303.2		115196	142378101	NM_152303.2	ZNF554	NP_689516.1	ILMN_1815118	670291	S	2080	CATACCTCACTGCAGCTTCAACTTCCTGGGCTCAAGTAATCCTCCCACCC				19p13.3f	"Homo sapiens zinc finger protein 554 (ZNF554), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ34817	FLJ34817
Hydrolase -> Pyrophosphatase	Biological process unclassified	Homo sapiens	RefSeq	ILMN_29602	ILMN_29602	HDDC3	NM_198527.2	NM_198527.2		374659	142382066	NM_198527.2	HDDC3	NP_940929.1	ILMN_1781638	3710673	S	738	CAGGCCGGACAGGATTCATACGCCATCTTTTCTGTGTCTCCTGAGCTCCC	15	-	89275416-89275465	15q26.1c	"Homo sapiens HD domain containing 3 (HDDC3), mRNA."			"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]"	MGC45386	MGC45386
Signaling molecule -> Cytokine -> Interferon	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Immunity and defense -> Interferon-mediated immunity	Homo sapiens	RefSeq	ILMN_164114	ILMN_164114	IFNE1	NM_176891.3	NM_176891.3		338376	54262143	NM_176891.3	IFNE1	NP_795372.1	ILMN_2097997	6840441	S	1092	CAGGACTACAGCACCTGTGCCTGGGCCATTGTCCAAGTAGAAATCAGCCG	9	-	21471171-21471220	9p21.3c	"Homo sapiens interferon epsilon 1 (IFNE1), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]"	"Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack [goid 6952] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus [goid 9615] [evidence IEA]"	 [goid 5126] [evidence IEA]	PRO655; MGC119020; IFNT1; MGC119018	MGC119018; PRO655; MGC119020; IFNT1
		Homo sapiens	RefSeq	ILMN_10083	ILMN_10083	DLEU2L	NR_002771.1	NR_002771.1		79469	84872048	NR_002771.1	DLEU2L		ILMN_2143011	3420615	S	1003	AGTTGGACCCTTGTGTTTTGAAGAAATGCCAACTGCTTGAAGAATTTCCT	1	+	63788241-63788290	1p31.3c	"Homo sapiens deleted in lymphocytic leukemia 2-like (DLEU2L), non-coding RNA."				BCMSUNL	BCMSUNL
Transferase -> Methyltransferase	Amino acid metabolism -> Other amino acid metabolism;Nucleoside, nucleotide and nucleic acid metabolism -> Other nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_18055	ILMN_18055	SHMT1	NM_004169.3	NM_004169.3		6470	22547185	NM_004169.3	SHMT1	NP_004160.3	ILMN_1743784	3420433	I	1063	TATCAATTCTGCTGTGTTCCCTGGCCTGCAGGGAGGTCCCCACAACCACG	17	-	18179606-18179655	17p11.2f	"Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 17482557] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 627563] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9753690] [evidence EXP]"	"The chemical reactions and pathways involving glycine, aminoethanoic acid [goid 6544] [evidence IEA]; The chemical reactions and pathways involving L-serine, the levorotatory isomer of 2-amino-3-hydroxypropanoic acid [goid 6563] [evidence IEA]; The chemical reactions and pathways involving glycine, aminoethanoic acid [goid 6544] [evidence IEA]; The chemical reactions and pathways involving L-serine, the levorotatory isomer of 2-amino-3-hydroxypropanoic acid [goid 6563] [evidence IEA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The chemical reactions and pathways involving glycine, aminoethanoic acid [goid 6544] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of L-serine, the levorotatory isomer of 2-amino-3-hydroxypropanoic acid [goid 6565] [pmid 17482557] [evidence IDA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The chemical reactions and pathways resulting in the formation of purine bases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine [goid 9113] [pmid 11516159] [evidence IDA]; The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines [goid 46655] [pmid 11278996] [evidence IDA]; The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits [goid 51262] [pmid 9753690] [evidence IDA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 8505317] [evidence IDA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 17482557] [evidence IDA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 627563] [evidence EXP]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 9753690] [evidence EXP]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [pmid 17482557] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 9753690] [evidence IDA]"	MGC15229; MGC24556; SHMT; CSHMT	MGC15229; MGC24556; SHMT; CSHMT
Transferase -> Methyltransferase	Amino acid metabolism -> Other amino acid metabolism;Nucleoside, nucleotide and nucleic acid metabolism -> Other nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_17710	ILMN_18055	SHMT1	NM_004169.3	NM_004169.3		6470	22547185	NM_004169.3	SHMT1	NP_004160.3	ILMN_1811933	2690528	A	2276	CCAGGCTTTCCTGCTCCACCTGAGATAACCAACTCCCTCCCGTAATCAGG	17	-	18172105-18172154	17p11.2f	"Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 17482557] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 627563] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9753690] [evidence EXP]"	"The chemical reactions and pathways involving glycine, aminoethanoic acid [goid 6544] [evidence IEA]; The chemical reactions and pathways involving L-serine, the levorotatory isomer of 2-amino-3-hydroxypropanoic acid [goid 6563] [evidence IEA]; The chemical reactions and pathways involving glycine, aminoethanoic acid [goid 6544] [evidence IEA]; The chemical reactions and pathways involving L-serine, the levorotatory isomer of 2-amino-3-hydroxypropanoic acid [goid 6563] [evidence IEA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The chemical reactions and pathways involving glycine, aminoethanoic acid [goid 6544] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of L-serine, the levorotatory isomer of 2-amino-3-hydroxypropanoic acid [goid 6565] [pmid 17482557] [evidence IDA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The chemical reactions and pathways resulting in the formation of purine bases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine [goid 9113] [pmid 11516159] [evidence IDA]; The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines [goid 46655] [pmid 11278996] [evidence IDA]; The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits [goid 51262] [pmid 9753690] [evidence IDA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 8505317] [evidence IDA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 17482557] [evidence IDA]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 627563] [evidence EXP]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + glycine + H2O = tetrahydrofolate + L-serine [goid 4372] [pmid 9753690] [evidence EXP]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [pmid 17482557] [evidence IDA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 9753690] [evidence IDA]"	MGC15229; MGC24556; SHMT; CSHMT	MGC15229; MGC24556; SHMT; CSHMT
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17894	ILMN_182711	LOC401233	NM_001013680.1	NM_001013680.1		401233	61966806	NM_001013680.1	LOC401233	NP_001013702.1	ILMN_1674285	4570451	S	2513	CTTTAGGACACAGCCTTGCATAAGAGCCGTGAAGAACTTGGGGCAGTTGC	6	-	2964502-2964551	6p25.2b	"Homo sapiens similar to HIV TAT specific factor 1; cofactor required for Tat activation of HIV-1 transcription (LOC401233), mRNA."
Signaling molecule -> Other signaling molecule;Select regulatory molecule -> Other enzyme regulator;Select calcium binding protein -> Calmodulin related protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5922	ILMN_5922	SPATA21	NM_198546.1	NM_198546.1		374955	38348381	NM_198546.1	SPATA21	NP_940948.1	ILMN_1705337	1740575	S	1700	TGCTCTGCCCACAGCTGGACAAGAAGATGGTCCGTAGGCAGCCGAGCAAC	1	-	16598511-16598560	1p36.13f	"Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA."			Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	spergen2; MGC27074; spergen-2; RP11-430L17.3	spergen2; MGC27074; spergen-2; RP11-430L17.3
Hydrolase -> Esterase	Neuronal activities -> Synaptic transmission -> Neuromuscular synaptic transmission	Homo sapiens	RefSeq	ILMN_43873	ILMN_43873	ACHE	NM_000665.3	NM_000665.3		43	88999567	NM_000665.3	ACHE	NP_000656.1	ILMN_2333219	1170594	A	1905	ACCGCTGGAGCTCCTACATGGTGCACTGGAAGAACCAGTTCGACCACTAC	7	-	100325800-100325849	7q22.1c	"Homo sapiens acetylcholinesterase (Yt blood group) (ACHE), transcript variant E4-E6, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 11283752] [evidence TAS]; A thin sheet of proteoglycans and glycoproteins, especially laminin, secreted by cells as an extracellular matrix [goid 5605] [pmid 16289501] [evidence NAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 15454088] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [pmid 8460160] [evidence IDA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 14766237] [evidence IDA]"	"The chemical reactions and pathways resulting in the breakdown of acetylcholine that occurs in the synaptic cleft during synaptic transmission [goid 1507] [pmid 1517212] [evidence NAS]; The process whose specific outcome is the progression of an osteoblast over time, from its formation to the mature structure. Osteoblast development does not include the steps involved in committing a cranial neural crest cell or an osteoprogenitor cell to an osteoblast fate. An osteoblast is a cell that gives rise to bone [goid 2076] [pmid 15454088] [evidence IEP]; The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [pmid 11283752] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 11283752] [evidence TAS]; The biosynthesis of a synapse [goid 7416] [pmid 11283752] [evidence TAS]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 11283752] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 11283752] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism [goid 9611] [pmid 11283752] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine [goid 32223] [pmid 1517212] [evidence IC ]; The chemical reactions and pathways involving amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease [goid 42982] [pmid 12769797] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of the regulated release of a protein from a cell or group of cells [goid 50714] [pmid 11283752] [evidence TAS]"	"Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 11283752] [evidence TAS]; Catalysis of the reaction: acetylcholine + H2O = choline + acetate [goid 3990] [pmid 1517212] [evidence IMP]; Catalysis of the reaction: an acylcholine + H2O = choline + a carboxylic acid anion [goid 4104] [pmid 1517212] [evidence IDA]; Interacting selectively with collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%) [goid 5518] [pmid 12524166] [evidence IDA]; Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 17171] [pmid 3954986] [evidence IDA]; Interacting selectively with acetylcholine, an acetic acid ester of the organic base choline that functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions [goid 42166] [pmid 1517212] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 1517212] [evidence NAS]; Interacting selectively with laminin-1, a glycoprotein trimer with the subunit composition alpha1, beta1, gamma1 [goid 43237] [pmid 12524166] [evidence IDA]"	N-ACHE; YT; ARACHE	N-ACHE; YT; ARACHE
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_167940	ILMN_167940	LOC653319	NM_001040715.1	NM_001040715.1		653319	106507203	NM_001040715.1	LOC653319	NP_001035805.1	ILMN_2176755	4560066	S	1751	TTCCGCAAGCAGCCGTTCCTGTGGCGCGCTGCACTGCTCTACTACACCAT	16	-	65769730-65769779	16q22.1a	"Homo sapiens hypothetical protein LOC653319 (LOC653319), mRNA. XM_933435 XM_933438 XM_933442 XM_933445 XM_933447 XM_941971 XM_945589 XM_945591 XM_945592 XM_945593 XM_945594 XM_945596 XM_945598 XM_945599 XM_945600"
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Microtubule binding motor protein	Intracellular protein traffic;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_7777	ILMN_7777	KIF5B	NM_004521.1	NM_004521.1		3799	4758647	NM_004521.1	KIF5B	NP_004512.1	ILMN_1788160	2710017	S	3346	CCTGGCCTGTACAGCTGTTTCCTACCTACTCTTCTTGTAAACTCTGCTGC	10	-	32340281-32340330	10p11.22c	"Homo sapiens kinesin family member 5B (KIF5B), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work [goid 5871] [pmid 1607388] [evidence TAS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm [goid 35253] [evidence IEA]; A prolongation or process extending from a nerve cell, e.g. an axon or dendrite [goid 43005] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [evidence ISS]"	"A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of the cytoplasm. The cytoplasm is all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 7028] [evidence IEA]; The directed movement of a vesicle along a microtubule, mediated by motor proteins [goid 47496] [evidence ISS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of movement along a microtubule, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 3777] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17220478] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with microtubules, filaments composed of tubulin monomers [goid 8017] [evidence ISS]"	UKHC; KINH; U-KHC; KNS1; KNS	UKHC; KINH; U-KHC; KNS1; KNS
Miscellaneous function -> Structural protein	Cell cycle -> Mitosis -> Chromosome segregation	Homo sapiens	RefSeq	ILMN_16808	ILMN_16808	NUF2	NM_031423.3	NM_031423.3		83540	117968352	NM_031423.3	NUF2	NP_113611.2	ILMN_1658695	2000458	A	1437	CTGCTTTGGAGAAATACCACGACGGTATTGAAAAGGCAGCAGAGGACTCC	1	+	161591771-161591820	1q23.3c	"Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 2, mRNA."	"The region of a chromosome that includes the centromere and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome [goid 775] [pmid 11266451] [evidence NAS]; A multisubunit complex that is located at the centromeric region of a condensed chromosome and provides an attachment point for the spindle microtubules [goid 777] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The region of a chromosome that includes the centromere and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome [goid 775] [evidence IEA]; The region of a chromosome that includes the centromere and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome [goid 775] [evidence IEA]"	"The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets [goid 7059] [pmid 11266451] [evidence NAS]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15961401] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17535814] [evidence IPI]"	NUF2R; CDCA1	NUF2R; CDCA1
Miscellaneous function -> Structural protein	Cell cycle -> Mitosis -> Chromosome segregation	Homo sapiens	RefSeq	ILMN_16808	ILMN_16808	NUF2	NM_031423.3	NM_031423.3		83540	117968352	NM_031423.3	NUF2	NP_113611.2	ILMN_2406724	6590458	A	1370	CAACAACTAAAAGATGCTGCTGAAAGGGAGAAACTGAAGTCCCAGGAAAT	1	+	161585450-161585494:161591749-161591753	1q23.3c	"Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 2, mRNA."	"The region of a chromosome that includes the centromere and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome [goid 775] [pmid 11266451] [evidence NAS]; A multisubunit complex that is located at the centromeric region of a condensed chromosome and provides an attachment point for the spindle microtubules [goid 777] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The region of a chromosome that includes the centromere and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome [goid 775] [evidence IEA]; The region of a chromosome that includes the centromere and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome [goid 775] [evidence IEA]"	"The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets [goid 7059] [pmid 11266451] [evidence NAS]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]; Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15961401] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17535814] [evidence IPI]"	NUF2R; CDCA1	NUF2R; CDCA1
Transferase -> Glycosyltransferase	Protein metabolism and modification -> Protein modification -> Protein glycosylation	Homo sapiens	RefSeq	ILMN_15723	ILMN_15723	ST6GAL2	NM_032528.1	NM_032528.1		84620	26190609	NM_032528.1	ST6GAL2	NP_115917.1	ILMN_1797102	2190129	S	1714	CTTCCAGGCGGTGCACTGCCCTGCACCAAGTCCAGTCATTCCACACTCTT	2	-	106789568-106789617	2q12.3a	"Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), mRNA."	"A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 12235148] [evidence NAS]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the Golgi complex membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30173] [evidence IEA]"	"The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 12235148] [evidence NAS]; The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages [goid 9311] [evidence ISS]; The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages [goid 9311] [pmid 12235148] [evidence IDA]; The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages [goid 9311] [evidence ISS]; The increase in size or mass of an entire organism, a part of an organism or a cell [goid 40007] [pmid 12235148] [evidence NAS]"	"Catalysis of the reaction: CMP-N-acetylneuraminate + beta-D-galactosyl-1,4-acetyl-beta-D-glucosamine = CMP + alpha-N-acetylneuraminyl-2,6-beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosamine [goid 3835] [evidence ISS]; Catalysis of the reaction: CMP-N-acetylneuraminate + beta-D-galactosyl-1,4-acetyl-beta-D-glucosamine = CMP + alpha-N-acetylneuraminyl-2,6-beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosamine [goid 3835] [pmid 12235148] [evidence IDA]; Catalysis of the reaction: CMP-N-acetylneuraminate + beta-D-galactosyl-1,4-acetyl-beta-D-glucosamine = CMP + alpha-N-acetylneuraminyl-2,6-beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosamine [goid 3835] [evidence ISS]"	KIAA1877; ST6GalII; SIAT2	SIAT2; KIAA1877; ST6GalII
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24839	ILMN_24839	LOC91461	NM_138370.1	NM_138370.1		91461	66793375	NM_138370.1	LOC91461	NP_612379.1	ILMN_1734445	4590561	S	1551	GCTCCAGGATGTGGGTGATTCTGTACCTGGGGAGGCTATCTCTGACCTCC	2	+	42138814-42138863	2p21f	"Homo sapiens hypothetical protein BC007901 (LOC91461), mRNA."				MGC125960	MGC125960
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19232	ILMN_19232	APOL2	NM_145637.1	NM_145637.1		23780	22035652	NM_145637.1	APOL2	NP_663612.1	ILMN_2248822	4880291	I	108	GGGGGGCAAGCGGCTCAGATGGGTTCAAAAAACTCCCCAGGCTCAACTCT	22	-	34965789-34965838	22q12.3d	"Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 11374903] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 11944986] [evidence NAS]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 11374903] [evidence NAS]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [pmid 11374903] [evidence NAS]; Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [pmid 11374903] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 11374903] [evidence NAS]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [pmid 11374903] [evidence NAS]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; A reproductive process occurring in the mother that allows an embryo or fetus to develop within it [goid 60135] [pmid 11374903] [evidence NAS]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]"	"Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 11374903] [evidence NAS]; Interacting selectively with high-density lipoprotein: one of the classes of lipoproteins found in blood plasma in many animals (data normally relate to humans) [goid 8035] [pmid 11374903] [evidence NAS]; Interacting selectively with a lipid [goid 8289] [pmid 11374903] [evidence NAS]; Interacting selectively with a lipid [goid 8289] [evidence IEA]"	APOL-II	APOL-II
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19232	ILMN_19232	APOL2	NM_145637.1	NM_145637.1		23780	22035652	NM_145637.1	APOL2	NP_663612.1	ILMN_2325337	5700754	A	2343	GTGGCTTCTTCATGATGGTGGTTGGGGTGGTTGTCATGTGACGGGTCCCC	22	-	34952494-34952543	22q12.3d	"Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 11374903] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 11944986] [evidence NAS]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 11374903] [evidence NAS]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [pmid 11374903] [evidence NAS]; Process involving non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals [goid 6953] [pmid 11374903] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 11374903] [evidence NAS]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [pmid 11374903] [evidence NAS]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; A reproductive process occurring in the mother that allows an embryo or fetus to develop within it [goid 60135] [pmid 11374903] [evidence NAS]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]"	"Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 11374903] [evidence NAS]; Interacting selectively with high-density lipoprotein: one of the classes of lipoproteins found in blood plasma in many animals (data normally relate to humans) [goid 8035] [pmid 11374903] [evidence NAS]; Interacting selectively with a lipid [goid 8289] [pmid 11374903] [evidence NAS]; Interacting selectively with a lipid [goid 8289] [evidence IEA]"	APOL-II	APOL-II
Protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_9401	ILMN_9401	RCE1	NM_001032279.1	NM_001032279.1		9986	73858574	NM_001032279.1	RCE1	NP_001027450.1	ILMN_1685002	3520288	A	1263	CAGGTCCCAGGAGCCACACACTCCCTTCCTCACTTTGGACTGCTGCTTCT	11	+	66370375-66370424	11q13.1e	"Homo sapiens RCE1 homolog, prenyl protein peptidase (S. cerevisiae) (RCE1), transcript variant 2, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10085068] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 10085068] [evidence TAS]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [pmid 10085068] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FACE2; RCE1B; RCE1A	FACE2; RCE1B; RCE1A
Protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_9401	ILMN_9401	RCE1	NM_001032279.1	NM_001032279.1		9986	73858574	NM_001032279.1	RCE1	NP_001027450.1	ILMN_2337492	6290187	A	834	ATTACATGGGTTTCCCAGCTGTTTGCGCGGCCTTGGAGCACCCACAGAGG	11	+	66369946-66369995	11q13.1e	"Homo sapiens RCE1 homolog, prenyl protein peptidase (S. cerevisiae) (RCE1), transcript variant 2, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10085068] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 10085068] [evidence TAS]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [pmid 10085068] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FACE2; RCE1B; RCE1A	FACE2; RCE1B; RCE1A
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_710	ILMN_710	C14ORF48	NM_152777.2	NM_152777.2		256369	34303957	NM_152777.2	C14orf48	NP_689990.1	ILMN_1668914	4010369	S	908	GCTGCTCGGCTACATGCAAATGACCATCACCAACATGGCCCGGCAGTGCT	14	+	93540958-93541007	14q32.13a	"Homo sapiens chromosome 14 open reading frame 48 (C14orf48), mRNA."				c14_5713; MGC33356	c14_5713; MGC33356
Transcription factor -> Other transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_23277	ILMN_23277	RFX3	NM_002919.2	NM_002919.2		5991	19743882	NM_002919.2	RFX3	NP_002910.1	ILMN_2269392	6060563	I	2374	GTTCCTAACCAAGTCAGCCTCAGAGCCAGGAGGGACTGTGGAGTTATTGC	9	-	3237888-3237937	9p24.2b-p24.2a	"Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12411430] [evidence IC ]"	"Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 12411430] [evidence IDA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]; Functions to initiate or regulate RNA polymerase II transcription by binding an enhancer region of DNA [goid 3705] [pmid 8289803] [evidence TAS]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [pmid 12411430] [evidence IDA]	bA32F11.1; MGC87155	bA32F11.1; MGC87155
Select regulatory molecule -> G-protein -> Small GTPase	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_7087	ILMN_7087	ARL5B	NM_178815.3	NM_178815.3		221079	59858805	NM_178815.3	ARL5B	NP_848930.1	ILMN_2120022	1710753	S	3436	AGTGAAAAGCAAGGGACCCACCTACATTACCTTCAGGAGACTGTTCTACC	10	+	19006793-19006842	10p12.33b	"Homo sapiens ADP-ribosylation factor-like 5B (ARL5B), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	ARL8	ARL8
Nucleic acid binding -> Double-stranded DNA binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell cycle -> Mitosis -> Chromosome segregation	Homo sapiens	RefSeq	ILMN_5105	ILMN_5105	HMGA1	NM_145899.1	NM_145899.1		3159	22208966	NM_145899.1	HMGA1	NP_665906.1	ILMN_2311537	7400286	A	1493	CCCCCCAAGGTTCTGGTTCCATTTTTCCTCTGTTCACAAACTACCTCTGG	6	+	34321559-34321608	6p21.31e	"Homo sapiens high mobility group AT-hook 1 (HMGA1), transcript variant 1, mRNA."	"The ordered and organized complex of DNA and protein that forms the chromosome [goid 785] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The ordered and organized complex of DNA and protein that forms the chromosome [goid 785] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [pmid 10428834] [evidence TAS]; A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information [goid 5694] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15479846] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12228227] [evidence EXP]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process by which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication [goid 6268] [pmid 10428834] [evidence NAS]; The controlled breakdown of nucleosomes, the beadlike structural units of eukaryotic chromatin composed of histones and DNA [goid 6337] [pmid 10428834] [evidence TAS]; The process leading to expression of genes that are typically not expressed due to silencing by regulatory proteins [goid 6345] [pmid 10428834] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 10871404] [evidence TAS]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 10428834] [evidence TAS]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 15609325] [evidence NAS]; The molecular events that lead to the integration of a viral genome into the host genome [goid 19047] [pmid 16291214] [evidence EXP]; The set of processes involved in the start of virus infection of cells [goid 19059] [pmid 12091904] [evidence EXP]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [pmid 10428834] [evidence IMP]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with oligo(A) and oligo(T) tracts of DNA (AT DNA) [goid 3680] [pmid 10428834] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10428834] [evidence IMP];  [goid 30374] [pmid 10428834] [evidence IMP]; Interacting selectively with any of the peroxisome proliferator activated receptors, alpha, beta or gamma [goid 42975] [pmid 10428834] [evidence IDA]; Interacting selectively with a retinoid X receptor [goid 46965] [pmid 10428834] [evidence IDA]"	MGC12816; MGC4854; HMG-R; MGC4242; HMGIY	MGC12816; MGC4854; HMG-R; MGC4242; HMGIY
Receptor;Extracellular matrix	Signal transduction -> Cell surface receptor mediated signal transduction;Immunity and defense	Homo sapiens	RefSeq	ILMN_42585	ILMN_42585	CPN2	XM_942072.2	XM_942072.2		1370	113415388	XM_942072.2	CPN2	XP_947165.1	ILMN_1781013	2470132	A	2817	CACCCCCGCTGCTTCGAGTTGTCCTGCCTTTCTGAACTCAACCAATGTAT				3q29c	"PREDICTED: Homo sapiens carboxypeptidase N, polypeptide 2, 83kD (CPN2), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2378615] [evidence NAS]	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation [goid 50821] [pmid 2378615] [evidence NAS]	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Modulates the activity of an enzyme [goid 30234] [pmid 2378615] [evidence NAS]
Transporter -> Other transporter	Intracellular protein traffic -> Nuclear transport	Homo sapiens	RefSeq	ILMN_170157	ILMN_170157	NUP54	NM_017426.2	NM_017426.2		53371	26051236	NM_017426.2	NUP54	NP_059122.2	ILMN_2061405	4810358	S	1955	CTGTGTTTAATGATTATTGTCCATTGAGCCTGTACTCTGCTTTCCATACC	4	-	77255190-77255239	4q21.1a	"Homo sapiens nucleoporin 54kDa (NUP54), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any of the numerous similar discrete openings in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined [goid 5643] [pmid 8707840] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 8707840] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8707840] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space [goid 31965] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of mRNA, messenger ribonucleic acid, into, out of, within or between cells [goid 51028] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"		MGC13407	MGC13407
Transcription factor -> Basal transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription elongation	Homo sapiens	RefSeq	ILMN_9423	ILMN_9423	TCEA1	NM_201437.1	NM_201437.1		6917	45439354	NM_201437.1	TCEA1	NP_958845.1	ILMN_2357770	110427	A	1005	CAGATGGCCAAGACTGGTGGGACCCAGACTGACTTGTTCACATGTGGCAA	8	-	55054168-55054217	8q11.23d	"Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12676794] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [evidence IEA]"	"The extension of an RNA molecule after transcription initiation by the addition of ribonucleotides catalyzed by an RNA polymerase [goid 6354] [evidence IEA]; The process by which a myeloid precursor cell acquires specializes features of an erythrocyte [goid 30218] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Any activity that modulates the rate of transcription elongation, the addition of ribonucleotides to an RNA molecule following transcription initiation [goid 3711] [evidence IEA]; Functions in chain elongation during polypeptide synthesis at the ribosome [goid 3746] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Any function that supports basal (unregulated) transcription of genes by core RNA polymerase II. Five general transcription factors are necessary and sufficient for such basal transcription in yeast: TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBF) [goid 16251] [pmid 1708494] [evidence TAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	SII; TCEA; TFIIS; GTF2S; TF2S	SII; GTF2S; TF2S; TCEA; TFIIS
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes;Cell cycle -> Cell cycle control	Homo sapiens	RefSeq	ILMN_13603	ILMN_13603	FOSB	NM_006732.1	NM_006732.1		2354	5803016	NM_006732.1	FOSB	NP_006723.1	ILMN_1751607	7160239	S	3716	TGGGCCGTCCCCTCTCCCCTTGGTTCTGCACTGTTGCCAATAAAAAGCTC	19	+	50670217-50670266	19q13.32a	"Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 1900040] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 8706134] [evidence TAS]; The specific actions or reactions of an organism in response to external or internal stimuli. Patterned activity of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions [goid 7610] [pmid 8706134] [evidence TAS]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [pmid 1900040] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]"	GOS3; G0S3; MGC42291; GOSB; DKFZp686C0818	GOS3; G0S3; MGC42291; GOSB; DKFZp686C0818
Receptor -> Protein kinase receptor -> Serine/threonine protein kinase receptor;Kinase -> Protein kinase -> Serine/threonine protein kinase receptor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19873	ILMN_19873	PASK	NM_015148.2	NM_015148.2		23178	35038527	NM_015148.2	PASK	NP_055963.2	ILMN_1754858	2140382	S	3740	GCCATACCTGGTGTCCAAAGAACTCATGAGCCTTGTGTCTGGGCTGCTGC	2	-	241695557-241695587:241696255-241696273	2q37.3f	"Homo sapiens PAS domain containing serine/threonine kinase (PASK), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 17353931] [evidence IPI]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	KIAA0135; DKFZp686P2031; STK37; PASKIN; DKFZP434O051	KIAA0135; STK37; PASKIN; DKFZp686P2031; DKFZP434O051
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15793	ILMN_15793	STRA6	NM_022369.2	NM_022369.2		64220	21314699	NM_022369.2	STRA6	NP_071764.2	ILMN_1807652	6420215	S	2444	CTCCCTACCCTGGCTCTGCCATCAGCCTTGAAGGGCCTCGATGAAGCCTT	15	-	72259138-72259187	15q24.1b	"Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 11256614] [evidence IDA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	PP14296; MCOPS9; FLJ12541	PP14296; MCOPS9; FLJ12541
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15457	ILMN_15457	CCNYL1	NM_152523.1	NM_152523.1		151195	22749084	NM_152523.1	CCNYL1	NP_689736.1	ILMN_2166524	2060112	S	1657	GGAGCAGACAGCAGCGTTGTTAGGTACTGAAGGGTTCTTCCTCCCTACTG	2	+	208327139-208327188	2q33.3d	"Homo sapiens cyclin Y-like 1 (CCNYL1), mRNA."				FLJ40432	FLJ40432
		Homo sapiens	RefSeq	ILMN_29167	ILMN_307094	KIAA1217	NM_001098500.1	NM_001098500.1		56243	148612812	NM_001098500.1	KIAA1217	NP_001091970.1	ILMN_1706960	1450731	S	5936	GCAAGTGTGGTGCCTTGGATGTGGCCTGTTGGCTCGCTTTCTTCTCTGTG	10	+	24876591-24876640	10p12.2a-p12.1d	"Homo sapiens KIAA1217 (KIAA1217), transcript variant 2, mRNA."				DKFZP761L0424; MGC31990; RP11-324E23.1; SKT	DKFZP761L0424; RP11-324E23.1; MGC31990; SKT
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_26289	ILMN_26289	ZNF678	NM_178549.2	NM_178549.2		339500	31341723	NM_178549.2	ZNF678	NP_848644.1	ILMN_2095789	6420170	S	2141	CAGACTTTATTCAACTTTAGAGGATTTTACGGGGGCAAAAAACCTCCTAC	1	+	225910370-225910419	1q42.13b	"Homo sapiens zinc finger protein 678 (ZNF678), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC42493	MGC42493
Transcription factor -> HMG box transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_8034	ILMN_8034	SOX17	NM_022454.3	NM_022454.3		64321	145275218	NM_022454.3	SOX17	NP_071899.1	ILMN_1671092	3610193	S	1404	CGACGCCAGCTCCGCGGTATATTACTGCAACTATCCTGACGTGTGACAGG	8	+	55535063-55535108:55535109-55535112	8q11.23d	"Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]	FLJ22252	FLJ22252
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8691	ILMN_164195	BLOC1S2	NM_001001342.1	NM_001001342.1		282991	47717128	NM_001001342.1	BLOC1S2	NP_001001342.1	ILMN_1679782	2630743	I	59	CAAGTGGAGGGATGTCGGAACAGGCTGCTTTGGCTGGATTAGCACCGGGT	10	-	102035996-102036045	10q24.31a	"Homo sapiens biogenesis of lysosome-related organelles complex-1, subunit 2 (BLOC1S2), transcript variant 2, mRNA."	"A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [evidence IEA]"		Interacting selectively with an identical protein or proteins [goid 42802] [pmid 15102850] [evidence IPI]	RP11-316M21.4; FLJ30135; BLOS2; MGC10120	RP11-316M21.4; FLJ30135; MGC10120; BLOS2
Nucleic acid binding	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade	Homo sapiens	RefSeq	ILMN_42211	ILMN_42211	DEPDC4	NM_152317.2	NM_152317.2		120863	90855782	NM_152317.2	DEPDC4	NP_689530.1	ILMN_2135527	2140743	S	960	TACGACGGCTACTTACTTTTATGGCAATGGCATCAGAGCCCAATGCCTAC	12	-	99170317-99170366	12q23.1d	"Homo sapiens DEP domain containing 4 (DEPDC4), mRNA."		A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]		FLJ33505; DEP.4	FLJ33505; DEP.4
Nucleic acid binding -> mRNA processing factor -> mRNA splicing factor	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_17110	ILMN_17110	SFRS14	NM_001017392.2	NM_001017392.2		10147	141803281	NM_001017392.2	SFRS14	NP_001017392.1	ILMN_1689007	5090253	I	4342	GGCTAGGGCATCAGCCACAGAACTGAGCGGGAAATGCCACTTGTATTGGC	19	-	18964481-18964530	19p13.11b	"Homo sapiens splicing factor, arginine/serine-rich 14 (SFRS14), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	DKFZp779L2418	DKFZp779L2418
Nucleic acid binding -> mRNA processing factor -> mRNA splicing factor	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_10407	ILMN_17110	SFRS14	NM_001017392.2	NM_001017392.2		10147	141803281	NM_001017392.2	SFRS14	NP_001017392.1	ILMN_1772487	1070053	A	3265	TCGATGTGTTCCGACAGAGGATGATGCAGATGTACAGACACAAGCGGGCC	19	-	18966183-18966232	19p13.11b	"Homo sapiens splicing factor, arginine/serine-rich 14 (SFRS14), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	DKFZp779L2418	DKFZp779L2418
Receptor -> Other receptor;Defense/immunity protein -> Other defense and immunity protein	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion;Immunity and defense -> Natural killer cell mediated immunity	Homo sapiens	RefSeq	ILMN_16455	ILMN_16455	KLRC1	NM_213657.1	NM_213657.1		3821	47717091	NM_213657.1	KLRC1	NP_998822.1	ILMN_2384139	5550341	A	406	AATGGCCTCTGTGGTAACGATAGTTGTTATTCCCTCACGTCATTGTGGCC	12	-	10493239-10493254:10494350-10494383	12p13.2c	"Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 4, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11513152] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2007850] [evidence TAS]	Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 2007850] [evidence TAS]	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 2007850] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]"	NKG2; MGC59791; CD159A; NKG2A; MGC13374	NKG2; MGC59791; CD159A; NKG2A; MGC13374
Membrane traffic protein -> Vesicle coat protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7845	ILMN_7845	AP3S1	NM_001002924.1	NM_001002924.1		1176	50959221	NM_001002924.1	AP3S1	NP_001002924.1	ILMN_2311761	7200402	A	598	AATCTGAGGCTGGCTTAGCAGGAGCTCCAGCCCGTGCTGTATCAGCTGTA	5	+	115266581-115266588:115276958-115276999	5q23.1a	"Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), transcript variant 2, mRNA."	"A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Any of several heterotetrameric complexes that link clathrin (or another coat-forming molecule, as hypothesized for AP-3 and AP-4) to a membrane surface; they are found on coated pits and coated vesicles, and mediate sorting of cargo proteins into vesicles. Each AP complex contains two large (a beta and one of either an alpha, gamma, delta, or epsilon) subunits (110-130 kDa), a medium (mu) subunit (approximately 50 kDa), and a small (sigma) subunit (15-20 kDa) [goid 30119] [pmid 8697810] [evidence TAS]; Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, and to destinations within or outside the cell [goid 30133] [pmid 9118953] [evidence TAS]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; Any of several different proteinaceous coats that can associate with membranes. Membrane coats include those formed by clathrin plus an adaptor complex, the COPI and COPII complexes, and possibly others. They are found associated with membranes on many vesicles as well as other membrane features such as pits and perhaps tubules [goid 30117] [evidence IEA]"	"The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; The series of molecular signals generated as a consequence of the insulin receptor binding to insulin [goid 8286] [pmid 9792713] [evidence TAS]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 9118953] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Enables the directed movement of proteins into, out of, within or between cells [goid 8565] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	CLAPS3; Sigma3A	CLAPS3; Sigma3A
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14971	ILMN_14971	ASB5	NM_080874.2	NM_080874.2		140458	22208965	NM_080874.2	ASB5	NP_543150.1	ILMN_2126055	5270554	S	2658	GCTGCTTTTGGGTAAAACAGGTTTCCACCAGTATTTTCCCTGAGCTAGAG	4	-	177372043-177372092	4q34.2a	"Homo sapiens ankyrin repeat and SOCS box-containing 5 (ASB5), mRNA."		"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]"
Receptor -> Cytokine receptor -> Tumor necrosis factor receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Apoptosis -> Induction of apoptosis	Homo sapiens	RefSeq	ILMN_5337	ILMN_5337	TNFRSF10B	NM_003842.3	NM_003842.3		8795	22547115	NM_003842.3	TNFRSF10B	NP_003833.3	ILMN_1812915	2360095	I	869	AGGAGACGGTGACCTCCAGCCCAGGGACTCCTGCCTCTCCCTGTTCTCTC	8	-	22941903-22941952	8p21.3a	"Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8777713] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10894160] [evidence EXP]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9311998] [evidence IC ]"	"Upregulation of the activity of a caspase, any of a group of cysteine proteases involved in apoptosis [goid 6919] [evidence NAS]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 9311998] [evidence TAS]; The stimulation of the activity of NF-kappaB-inducing kinase through phosphorylation at specific residues [goid 7250] [pmid 9430227] [evidence NAS]; The stimulation of the activity of NF-kappaB-inducing kinase through phosphorylation at specific residues [goid 7250] [pmid 11464292] [evidence NAS];  [goid 8625] [pmid 9311998] [evidence NAS]; The conversion of proteins that induce or sustain apoptosis to an active form [goid 8633] [pmid 14644197] [evidence EXP]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 10549288] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of an I-kappaB kinase/NF-kappaB induced cascade [goid 43123] [pmid 12761501] [evidence IEP]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [pmid 9311998] [evidence NAS]; Increases the rate of proteolysis catalyzed by a caspase [goid 8656] [evidence NAS]; Interacting selectively with TRAIL (TNF-related apoptosis inducing ligand), a member of the tumor necrosis factor ligand family that rapidly induces apoptosis in a variety of transformed cell lines [goid 45569] [pmid 9373179] [evidence NAS]"	KILLER/DR5; TRICKB; TRICK2; ZTNFR9; TRAIL-R2; DR5; TRICK2B; CD262; TRAILR2; TRICK2A; KILLER	KILLER/DR5; TRICK2; TRAILR2; TRICK2A; KILLER; TRICKB; ZTNFR9; TRAIL-R2; DR5; TRICK2B; CD262
		Homo sapiens	RefSeq	ILMN_23398	ILMN_168537	LOC151121	XR_017948.1	XR_017948.1		151121	113413978	XR_017948.1	LOC151121		ILMN_1735172	520626	S	178	GGATGCACCTCTGCTCCGTGTGGCTCCCTCCCACTCTCACTCTCCAAATG				2q21.1a	"PREDICTED: Homo sapiens hypothetical protein LOC151121 (LOC151121), misc RNA."
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10414	ILMN_10414	ARHGAP21	NM_020824.2	NM_020824.2		57584	50345878	NM_020824.2	ARHGAP21	NP_065875.2	ILMN_1811592	1260543	S	7025	GCATGAGGACTTAATGAATCCAAACCTGTGTCATGCCTGTGTGCATACCC	10	-	24912583-24912632	10p12.1d	"Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	FLJ33323; ARHGAP10; DKFZp761L0424	FLJ33323; DKFZp761L0424; ARHGAP10
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_21699	ILMN_21699	FLYWCH1	NM_032296.2	NM_032296.2		84256	62953133	NM_032296.2	FLYWCH1	NP_115672.2	ILMN_1690035	3390661	I	4849	CAGCCCTGCCTCTGCTGGTGCTTCGCCCACAAACCCTGCTGTATGACATT	16	+	2941067-2941116	16p13.3d	"Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
Nucleic acid binding -> Other DNA-binding protein	Cell cycle -> Mitosis	Homo sapiens	RefSeq	ILMN_4873	ILMN_4873	COIL	NM_004645.2	NM_004645.2		8161	57863302	NM_004645.2	COIL	NP_004636.1	ILMN_1688034	4250768	S	2456	CAGGCACCTGGCTGAGTGTGCTGGAGTGAGGATCTTGAACAGAAACTTCC	17	-	52370687-52370736	17q22c	"Homo sapiens coilin (COIL), mRNA."				p80-coilin; CLN80	p80-coilin; CLN80
Isomerase -> Other isomerase	Protein metabolism and modification -> Protein modification -> Protein disulfide-isomerase reaction	Homo sapiens	RefSeq	ILMN_13849	ILMN_13849	TXNDC1	NM_030755.4	NM_030755.4		81542	151101291	NM_030755.4	TXNDC1	NP_110382.3	ILMN_1691181	4880324	S	2288	CAATTTCTGTAATGTCCCCTTCTTTCTAGGCTCTGTTGCTGTGTGAATCC	14	+	50792307-50792356	14q22.1c	"Homo sapiens thioredoxin domain containing 1 (TXNDC1), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 11152479] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 11152479] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [pmid 11152479] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi [goid 6888] [pmid 11152479] [evidence TAS]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 11152479] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [pmid 11152479] [evidence NAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 11152479] [evidence NAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 11152479] [evidence NAS]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]; A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor [goid 45321] [pmid 11152479] [evidence NAS]; Any process that maintains the redox environment of a cell or compartment within a cell [goid 45454] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [pmid 11152479] [evidence NAS]; Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism [goid 45927] [pmid 11152479] [evidence NAS]"	Catalysis of an oxidation-reduction (redox) reaction that interconverts reduced sulfide groups and oxidized disulfide bonds in a substrate [goid 15036] [pmid 11152479] [evidence IDA]; Catalysis of the reaction: arsenate + thioredoxin = arsenite + thioredoxin disulfide. Thioredoxin functions as the electron donor for arsenate reduction. The electron flow therefore is NADPH -> thioredoxin reductase -> thioredoxin -> arsenate reductase [goid 30612] [pmid 11152479] [evidence NAS]	DKFZP564E1962; TMX; TXNDC	TMX; DKFZP564E1962; TXNDC
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5745	ILMN_5745	C14ORF106	NM_018353.3	NM_018353.3		55320	42415491	NM_018353.3	C14orf106	NP_060823.3	ILMN_1666208	1450603	S	4477	CTTGACATAGGATATTTTCCCTCTGGCTACACATTCACCTACCCTTGTTC	14	-	44742184-44742233	14q21.3b	"Homo sapiens chromosome 14 open reading frame 106 (C14orf106), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]	KIAA1903; HSA242977; FLJ11186; MIS18BP1	KIAA1903; HSA242977; FLJ11186; MIS18BP1
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Tubulin	Intracellular protein traffic;Cell cycle -> Mitosis -> Chromosome segregation;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_30319	ILMN_30319	TUBA3D	NM_080386.1	NM_080386.1		113457	58743305	NM_080386.1	TUBA3D	NP_525125.1	ILMN_2215639	1240703	S	1453	TCCCCTGCCACCCCCGGGATGGCTGCTTCCAAGTTGTTTGCAATTAAAGG	2	+	131956912-131956961	2q21.1d	"Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA."				H2-ALPHA	H2-ALPHA
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19683	ILMN_19683	TMEM60	NM_032936.2	NM_032936.2		85025	24475725	NM_032936.2	TMEM60	NP_116325.1	ILMN_1752213	4480368	S	553	GTCTTCATTCCTTTATGGGCCTTGCTGGCTGGGGCTTTAACAGAACTCGG	7	-	77261251-77261300	7q11.23g	"Homo sapiens transmembrane protein 60 (TMEM60), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			C7orf35; MGC74482; DC32	C7orf35; MGC74482; DC32
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein;Protease -> Serine protease	Protein metabolism and modification -> Proteolysis;Other metabolism	Homo sapiens	RefSeq	ILMN_6513	ILMN_6513	KLHDC8B	NM_173546.1	NM_173546.1		200942	27734908	NM_173546.1	KLHDC8B	NP_775817.1	ILMN_1695246	7560114	S	1732	GGAGTTCAAGTGGAGGAATGCTGGCTTTGAGCCCTCTACACTGCTGGTTG	3	+	49188720-49188769	3p21.31d	"Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA."				FLJ11302; MGC35097	FLJ11302; MGC35097
Cell adhesion molecule;Select calcium binding protein	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion	Homo sapiens	RefSeq	ILMN_5905	ILMN_167142	CLSTN3	NM_014718.3	NM_014718.3		9746	109715859	NM_014718.3	CLSTN3	NP_055533.2	ILMN_1734021	3420162	S	2823	ACCCTCATCATTGTGGTGTGCGTGGGCTTCCTGGTGCTCATGGTCGTCCT	12	+	7201369-7201418	12p13.31d-p13.31c	"Homo sapiens calsyntenin 3 (CLSTN3), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	MGC131797; alcbeta; KIAA0726; MGC138488; CSTN3	MGC131797; KIAA0726; CSTN3; alcbeta; MGC138488
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction;Apoptosis	Homo sapiens	RefSeq	ILMN_2116	ILMN_2116	RASSF4	NM_032023.3	NM_032023.3		83937	30474868	NM_032023.3	RASSF4	NP_114412.2	ILMN_1708890	540564	I	433	AGAACGGGAACATCACAGCCCAGGGGCCAAGCATTCAGCCAGTGCACAAG	10	+	44799493-44799542	10q11.21c	"Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA."		"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	MGC44914; AD037	AD037; MGC44914
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction;Apoptosis	Homo sapiens	RefSeq	ILMN_1013	ILMN_2116	RASSF4	NM_032023.3	NM_032023.3		83937	30474868	NM_032023.3	RASSF4	NP_114412.2	ILMN_1690566	10639	A	2339	GTCACAGCAGGATTTCCCCAACCCAGCTCCATCATCACAGACACAGAGAG	10	+	44810022-44810071	10q11.21c	"Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA."		"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	MGC44914; AD037	AD037; MGC44914
Hydrolase -> Lipase -> Phospholipase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism	Homo sapiens	RefSeq	ILMN_6273	ILMN_166333	MGLL	NM_007283.5	NM_007283.5		11343	51242951	NM_007283.5	MGLL	NP_009214.1	ILMN_1738589	160612	I	485	GCCTGGTTCTGATTCTCCAGGCTGTCGTGGTTGTGGAATGCAAACGCCAG	3	-	129023857-129023906	3q21.3b	"Homo sapiens monoglyceride lipase (MGLL), transcript variant 1, mRNA."		"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 9495531] [evidence TAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 9495531] [evidence TAS]"	"Catalysis of the reaction: 2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate [goid 4622] [pmid 9495531] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: H2O + acylglycerol = a fatty acid + glycerol [goid 47372] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	MGL; HU-K5	MGL; HU-K5
Hydrolase -> Lipase -> Phospholipase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism	Homo sapiens	RefSeq	ILMN_6273	ILMN_166333	MGLL	NM_007283.5	NM_007283.5		11343	51242951	NM_007283.5	MGLL	NP_009214.1	ILMN_1657708	3830327	A	4233	ACCCTACAGGCCTCAGTTCCTTGCAGAGGTGAGGGGTAGAGAGTCAGCCT	3	-	128890930-128890979	3q21.3b	"Homo sapiens monoglyceride lipase (MGLL), transcript variant 1, mRNA."		"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 9495531] [evidence TAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 9495531] [evidence TAS]"	"Catalysis of the reaction: 2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate [goid 4622] [pmid 9495531] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: H2O + acylglycerol = a fatty acid + glycerol [goid 47372] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	MGL; HU-K5	MGL; HU-K5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15572	ILMN_166949	HVCN1	NM_001040107.1	NM_001040107.1		84329	91992152	NM_001040107.1	HVCN1	NP_001035196.1	ILMN_1815168	3800735	S	1454	AATAGCTTCGTCTCAGTTTCCCCAAAAGGGGTACCCAGGCCCCTCCTCTG	12	-	109571106-109571155	12q24.11d	"Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 16554753] [evidence IDA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus [goid 9268] [pmid 16556803] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a zinc ion stimulus [goid 10043] [pmid 16554753] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a zinc ion stimulus [goid 10043] [pmid 16556803] [evidence ISS]; The directed movement of protons (hydrogen ions) into, out of, within or between cells [goid 15992] [pmid 16556803] [evidence ISS]"	Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a proton by a voltage-gated channel [goid 30171] [pmid 16556803] [evidence ISS]; Catalysis of the transmembrane transfer of a proton by a voltage-gated channel [goid 30171] [pmid 16554753] [evidence IDA]	MGC15619; HV1; VSOP	VSOP; MGC15619; HV1
Lyase -> Decarboxylase	Amino acid metabolism -> Other amino acid metabolism	Homo sapiens	RefSeq	ILMN_24471	ILMN_24471	GAD2	NM_000818.1	NM_000818.1		2572	4503874	NM_000818.1	GAD2	NP_000809.1	ILMN_1728301	7210736	S	2058	CAGCTGCCAAAATCGTAGGTGTTGGCTCTGCTGGTCACTGGAGTAGTTGC	10	+	26633089-26633138	10p12.1b	"Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), mRNA."	"The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]"	"The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-) [goid 19752] [evidence IEA]; The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-) [goid 19752] [evidence IEA]; The chemical reactions and pathways resulting in the formation of succinate from glutamate. Also known as GABA (gamma-aminobutyrate) shunt since it channels glutamate into the TCA cycle bypassing two steps of that cycle. There are three enzymes involved in the GABA shunt: glutamate decarboxylase (GAD), GABA aminotransferase (GABA-TA), and succinate semialdehyde dehydrogenase (SSADH). These three enzymes acting in concert to convert glutamate into succinate. The GABA shunt is predominantly associated with neurotransmission in the mammalian brain. It is also present in nonneuronal cells, in plants, in unicellular eukaryotes, and in prokaryotes [goid 6540] [pmid 1549570] [evidence TAS]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 8954991] [evidence TAS]; The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-) [goid 19752] [evidence IEA]; The chemical reactions and pathways resulting in the formation of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell [goid 42136] [evidence IEA]"	"Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound [goid 16831] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound [goid 16831] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2 [goid 4351] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10671565] [evidence IPI]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]"	MGC161607; GAD65; MGC161605	MGC161607; GAD65; MGC161605
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23247	ILMN_23247	WDR18	NM_024100.3	NM_024100.3		57418	56243582	NM_024100.3	WDR18	NP_077005.2	ILMN_1694479	7400554	S	1438	GTCGTGTTCGGGTTTTTCCTCTGTGACTGGGCCGTCTTGGTGTCTCGTGG	19	+	945456-945505	19p13.3i	"Homo sapiens WD repeat domain 18 (WDR18), mRNA."				MGC2436; R32184_1	MGC2436; R32184_1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6218	ILMN_6218	MTERFD3	NM_025198.3	NM_025198.3		80298	74271829	NM_025198.3	MTERFD3	NP_079474.2	ILMN_2388517	3360671	A	1337	CAGGATAAGGAAACTGAATTCCTCAGGCTACAGAATAAAGGATGGACATC	12	-	105895577-105895626	12q23.3c	"Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; The process by which transcription is completed; the formation of phosphodiester bonds ceases, the RNA-DNA hybrid dissociates, and RNA polymerase releases the DNA [goid 6353] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"		mTERFL; FLJ14062	mTERFL; FLJ14062
Miscellaneous function -> Other miscellaneous function protein	Signal transduction -> Cell communication	Homo sapiens	RefSeq	ILMN_24504	ILMN_162349	STMN4	NM_030795.2	NM_030795.2		81551	21361946	NM_030795.2	STMN4	NP_110422.2	ILMN_1731397	6860138	S	1083	GAGCCTCCAGGCACCATGTTGAGGAGAGATGAAAACCAGGGCGGTAGAAC	8	-	27149912-27149961	8p21.2a	"Homo sapiens stathmin-like 4 (STMN4), mRNA."		A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]		RB3; MGC111012	RB3; MGC111012
Transcription factor;Nucleic acid binding -> Chromatin/chromatin-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling	Homo sapiens	RefSeq	ILMN_21894	ILMN_21894	L3MBTL4	NM_173464.2	NM_173464.2		91133	141801799	NM_173464.2	L3MBTL4	NP_775735.1	ILMN_1775646	6280392	S	3890	CCCTGCCCATGGCCATCTGGATGGTTTTCATGTTGCTGTGTAAAGGAGGC				18p11.31b-p11.31a	"Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	HsT1031	HsT1031
Signaling molecule -> Peptide hormone	Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Apoptosis -> Inhibition of apoptosis	Homo sapiens	RefSeq	ILMN_17647	ILMN_27438	RLN2	NM_134441.1	NM_134441.1		6019	20143932	NM_134441.1	RLN2	NP_604390.1	ILMN_1744887	4180711	A	390	GAAACTTATTCGCAATAGACAAAGTGAAGCCGCAGACAGCAGTCCTTCAG	9	-	5290216-5290265	9p24.1c	"Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth [goid 7565] [pmid 6548702] [evidence TAS]	"The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects [goid 5179] [evidence IEA]"	H2; bA12D24.1.2; RLXH2; bA12D24.1.1	H2; bA12D24.1.2; RLXH2; bA12D24.1.1
Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_27403	ILMN_27403	KCNJ15	NM_170737.1	NM_170737.1		3772	25777639	NM_170737.1	KCNJ15	NP_733933.1	ILMN_2396903	2190349	A	2080	TGTCCCAGCCAGACTTACAGAATTGGGGTCTGTATCTTAACAAGAACCCC	21	+	38594966-38595015	21q22.13b	"Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8995301] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 8995301] [evidence TAS]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	 [goid 5242] [pmid 8995301] [evidence TAS]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5267] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA];  [goid 5242] [evidence IEA]; Catalysis of facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5267] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA];  [goid 5242] [evidence IEA]; Catalysis of facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5267] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	KIR4.2; MGC13584; KIR1.3; IRKK	KIR1.3; IRKK; KIR4.2; MGC13584
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Biological process unclassified	Homo sapiens	RefSeq	ILMN_34350	ILMN_35494	SGSM1	NM_001039948.2	NM_001039948.2		129049	148612873	NM_001039948.2	SGSM1	NP_001035037.1	ILMN_1661939	110072	S	145	AGCGCTCGGAGCCATGGCCTCGGCCCCCGCGGAGGCGGAGACCCGACAGA	22	+	23532280-23532292:23532293-23532311:23532408-23532425	22q11.23c	"Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]"	Any process that modulates the activity of a GTPase of the Rab family [goid 32313] [evidence IEA]; Any process that modulates the activity of a GTPase of the Rab family [goid 32313] [evidence IEA]	Increases the rate of GTP hydrolysis by a GTPase of the Rab family [goid 5097] [evidence IEA]; Increases the rate of GTP hydrolysis by a GTPase of the Rab family [goid 5097] [evidence IEA]	MGC133298; RUTBC2; SGSM1; KIAA1941	MGC133298; RUTBC2; SGSM1; KIAA1941
Hydrolase	Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation	Homo sapiens	RefSeq	ILMN_29605	ILMN_29605	MAN1A2	NM_006699.3	NM_006699.3		10905	46852167	NM_006699.3	MAN1A2	NP_006690.1	ILMN_2075507	5050373	S	5231	AAAAGCCCAGAAATGGTCCTTTTCAGGTGCCTCTTCAAAGAGCTGACACC	1	+	117869686-117869735	1p12c	"Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 9592125] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9592125] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The conversion of N-linked glycan structures from the initially transferred oligosaccharide to a mature form, by the actions of glycosidases and glycosyltransferases. The early processing steps are conserved and play roles in glycoprotein folding and trafficking [goid 6491] [pmid 9592125] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of the hydrolysis of the terminal 1,2-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2) [goid 4571] [pmid 9592125] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of any glycosyl bond [goid 16798] [evidence IEA]; Catalysis of the hydrolysis of the terminal 1,2-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2) [goid 4571] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of the terminal 1,2-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2) [goid 4571] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of the terminal 1,2-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2) [goid 4571] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]"	MAN1B	MAN1B
Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Developmental processes -> Other developmental process;Developmental processes -> Segment specification	Homo sapiens	RefSeq	ILMN_22030	ILMN_162103	OSR2	XM_001126824.1	XM_001126824.1		116039	113420473	XM_001126824.1	OSR2	XP_001126824.1	ILMN_1737715	5420452	A	1301	ATCCCTAGCCCTTCACTGACCCCAGCTCTTCCCTTGCTGCAGCCGCACCT				8q22.2a	"PREDICTED: Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [evidence IEA]; The process by which the anatomical structures of the skeleton are generated and organized during the embryonic phase. Morphogenesis pertains to the creation of form [goid 48704] [evidence IEA]	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
Membrane traffic protein -> Other membrane traffic protein	Muscle contraction	Homo sapiens	RefSeq	ILMN_18562	ILMN_18562	FER1L3	NM_013451.2	NM_013451.2		26509	19718757	NM_013451.2	FER1L3	NP_038479.1	ILMN_2370976	6510707	A	5874	CCATGAACCCCCTTAAAGCCAAGACAGCCTCCCTCTTTGAGCAGAAGTCC	10	-	95062820-95062869	10q23.33a-q23.33b	"Homo sapiens fer-1-like 3, myoferlin (C. elegans) (FER1L3), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10607832] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space [goid 31965] [evidence IEA]"	"A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 10607832] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 10607832] [evidence TAS]"		FLJ36571; FLJ90777; MYOF	FLJ36571; FLJ90777; MYOF
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_173981	ILMN_173981	CCNB1IP1	NM_182851.1	NM_182851.1		57820	33519437	NM_182851.1	CCNB1IP1	NP_878271.1	ILMN_2347349	510114	A	1480	TTGAGCCACGCATAGTGTCACGCACCTGTGATCCCAGCTACTTAGGAGGT	14	-	19849502-19849548:19849549-19849551	14q11.2b	"Homo sapiens cyclin B1 interacting protein 1 (CCNB1IP1), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12612082] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	C14orf18; HEI10	C14orf18; HEI10
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_173981	ILMN_173981	CCNB1IP1	NM_182851.1	NM_182851.1		57820	33519437	NM_182851.1	CCNB1IP1	NP_878271.1	ILMN_2260833	3130095	I	431	GCAATGGTGCGATCTCGGCTCACTGCAACCTTTGCCTCGTGGGTTCAAGT	14	-	19856386-19856435	14q11.2b	"Homo sapiens cyclin B1 interacting protein 1 (CCNB1IP1), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12612082] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	C14orf18; HEI10	C14orf18; HEI10
Transcription factor -> Zinc finger transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16957	ILMN_16957	RNF125	NM_017831.3	NM_017831.3		54941	115387109	NM_017831.3	RNF125	NP_060301.2	ILMN_1747192	2970703	S	875	CGGAGGCCTGTGTTCTGTCCACTTTGCCGTTTAATACCCGATGAGAATCC	18	+	27879682-27879693:27899863-27899900	18q12.1e	"Homo sapiens ring finger protein 125 (RNF125), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	FLJ20456; MGC21737; TRAC1	FLJ20456; MGC21737; TRAC1
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Muscle contraction;Developmental processes -> Ectoderm development -> Neurogenesis;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_174339	ILMN_174339	EDNRB	NM_000115.1	NM_000115.1		1910	4557546	NM_000115.1	EDNRB	NP_000106.1	ILMN_2264916	5890039	I	3941	CATATGGCCAAAGGAATACAGTTTATAGCAAAACATGGGTATGCTGTAGC	13	-	77367908-77367957	13q22.3b	"Homo sapiens endothelin receptor type B (EDNRB), transcript variant 1, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8810293] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8810293] [evidence TAS]	"The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo [goid 1755] [evidence IEA]; Any process that modulates the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion [goid 6885] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of adenylate cyclase activity [goid 7194] [pmid 9556633] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by the activation of phospholipase C and the subsequent release of inositol trisphosphate [goid 7200] [pmid 9556633] [evidence TAS]; The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands [goid 7422] [evidence IEA]; The process whose specific outcome is the progression of the posterior midgut over time, from its formation to the mature structure [goid 7497] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; The deposition of coloring matter in an organism, tissue or cell, occurring during development [goid 48066] [evidence IEA]; The movement of a macrophage in response to an external stimulus [goid 48246] [pmid 12207323] [evidence IMP]"	A G-protein coupled receptor that binds all endothelin molecules with approximately equal affinity [goid 1600] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	HSCR; ABCDS; HSCR2; ETRB; ETB	HSCR; ABCDS; HSCR2; ETRB; ETB
Molecular function unclassified	Developmental processes -> Gametogenesis -> Spermatogenesis and motility;Developmental processes -> Meiosis	Homo sapiens	RefSeq	ILMN_46873	ILMN_46873	MTL5	NM_001039656.1	NM_001039656.1		9633	89111118	NM_001039656.1	MTL5	NP_001034745.1	ILMN_2389528	2360121	A	988	CGGTAGTCAACGGGTCTGCTTTCCCCTCGGGATCAACTCTTCCAGGACCA	11	-	68262763-68262812	11q13.2b	"Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 2, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The regulation of the levels, transport, and metabolism of metal ions within a cell or between a cell and its external environment [goid 6875] [pmid 10191092] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 10191092] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus [goid 10038] [pmid 10191092] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	Interacting selectively with any metal ion [goid 46872] [pmid 10191092] [evidence TAS]	TESMIN; MTLT; CXCDC2	TESMIN; MTLT; CXCDC2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3399	ILMN_3399	C12ORF41	NM_017822.3	NM_017822.3		54934	154426299	NM_017822.3	C12orf41	NP_060292.3	ILMN_1713189	6660753	S	2018	ATCCTCTGAGAAAACAGCCCACAGGACTGGGTCCTCCTTATCCGTCTTGC	12	-	47333580-47333629	12q13.11c	"Homo sapiens chromosome 12 open reading frame 41 (C12orf41), mRNA."				FLJ12670; FLJ20436	FLJ20436; FLJ12670
Cell adhesion molecule -> CAM family adhesion molecule	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion	Homo sapiens	RefSeq	ILMN_17742	ILMN_17742	PSG9	NM_002784.2	NM_002784.2		5678	21314634	NM_002784.2	PSG9	NP_002775.2	ILMN_1801776	4120243	S	404	TCCAACGCATCCCTGCTGATCCAGAATGTCACCCGGAAGGATGCAGGAAC	19	-	48463849-48463898	19q13.31a	"Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth [goid 7565] [pmid 1690992] [evidence TAS]		PSG11	PSG11
Select regulatory molecule -> G-protein -> Small GTPase	Signal transduction -> Intracellular signaling cascade;Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis;Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_7627	ILMN_166166	RAB19	NM_001008749.1	NM_001008749.1		401409	56847627	NM_001008749.1	RAB19	NP_001008749.1	ILMN_1785297	4060273	S	734	TGGACTCCAGCCCCGTTCTTATGGCCCAGGGTCCAAGTGAAAAGACCCAC	7	+	139454722-139454771	7q34c	"Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]	Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	RAB19B	RAB19B
Select regulatory molecule -> G-protein -> Small GTPase	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6997	ILMN_6997	GTPBP5	NM_015666.2	NM_015666.2		26164	31563510	NM_015666.2	GTPBP5	NP_056481.1	ILMN_1769014	1990097	S	2619	ATAGACATCCCCCAAGTAGTCTCAGGCCTCTGACATGTCCCTGAGGGGCC	20	+	60210702-60210751	20q13.33c	"Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"The process of the formation of the constituents of the ribosome subunits, their assembly, and their transport to the sites of protein synthesis [goid 42254] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	ObgH1; dJ1005F21.2; MGC29512; FLJ10741	ObgH1; MGC29512; FLJ10741; dJ1005F21.2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1757	ILMN_1757	TMUB2	NM_024107.2	NM_024107.2		79089	115527091	NM_024107.2	TMUB2	NP_077012.2	ILMN_2311779	4280661	A	1812	TGCCCAACTCCAAGGACTGGGTATGGATTGCTGGGCCCTAGGCTCTTGCT	17	+	39624515-39624564	17q21.31c	"Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]"		MGC3123; FP2653	MGC3123; FP2653
Membrane traffic protein -> Membrane traffic regulatory protein	Intracellular protein traffic -> Lysosome transport;Neuronal activities -> Other neuronal activity	Homo sapiens	RefSeq	ILMN_24228	ILMN_169963	CLN3	NM_001042432.1	NM_001042432.1		1201	109698600	NM_001042432.1	CLN3	NP_001035897.1	ILMN_1669281	520630	S	1629	GGGCTCCTGGCTTTGCCTCTGCATGACTTCCTCTGCCAGCTCTCCTGATA	16	-	28396335-28396337:28396338-28396384	16p11.2e	"Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [pmid 10191111] [evidence IDA]; The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [pmid 9949212] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 12134079] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10191116] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10191116] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8980123] [evidence TAS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [evidence IEA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [pmid 15240864] [evidence IDA]; A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center [goid 5770] [evidence IEA]; A double-membrane-bounded vesicle in which endogenous cellular material is sequestered; known as autophagosome in yeast [goid 5776] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 10191111] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 15240864] [evidence IDA]; The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack [goid 5795] [pmid 15240864] [evidence IDA]; The network of interconnected tubular and cisternal structures located at the side of the Golgi apparatus distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination [goid 5802] [pmid 15240864] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15240864] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10191116] [evidence IDA]; A small pit, depression, or invagination, such as any of the minute pits or incuppings of the cell membrane formed during pinocytosis, that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Such caveolae may be pinched off to form free vesicles within the cytoplasm [goid 5901] [pmid 15240864] [evidence IDA]; Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [pmid 11590129] [evidence IDA]; Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [pmid 10332042] [evidence IDA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10191112] [evidence IDA]; Penetrating at least one phospholipid bilayer of an endoplasmic reticulum membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30176] [pmid 12706816] [evidence IDA]; A prolongation or process extending from a nerve cell, e.g. an axon or dendrite [goid 43005] [pmid 10332042] [evidence IDA]; Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 44433] [evidence IEA]"	"The fusion of an autophagic vacuole with a vacuole (yeast) or lysosome (e.g. mammals and insects). In the case of yeast, inner membrane-bounded structures (autophagic bodies) appear in the vacuole [goid 46] [evidence IEA]; Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. An action potential is a spike of membrane depolarization and repolarization that travels along the membrane of a cell [goid 1508] [evidence IEA]; The chemical reactions and pathways involving globosides, globotetraosylceramides, ceramides containing a core structure of GalNAc-beta-(1,3)-Gal-alpha(1,4)Glc(I). Globosides are the major neutral glycosphingolipid in normal kidneys and erythrocytes [goid 1575] [pmid 15240864] [evidence IMP]; The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 8980123] [evidence TAS]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [evidence IEA]; The chemical reactions and pathways involving glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. They are neutral glycolipids containing equimolar amounts of fatty acid, glucose, and sphingosine or a sphingosine derivative [goid 6678] [pmid 15240864] [evidence IMP]; The chemical reactions and pathways involving galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group [goid 6681] [pmid 15240864] [evidence IMP]; The chemical reactions and pathways involving sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine, any of a class of phospholipids in which the amino group of sphingosine is in amide linkage with one of several fatty acids, while the terminal hydroxyl group of sphingosine is esterified to phosphorylcholine [goid 6684] [pmid 15240864] [evidence IMP]; The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of, within or between cells [goid 6865] [evidence IEA]; The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 15471887] [evidence IMP]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases [goid 7040] [evidence IEA]; Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion [goid 7042] [pmid 11722572] [evidence IMP]; Learning by associating a stimulus (the cause) with a particular outcome (the effect) [goid 8306] [evidence IEA]; The directed movement of arginine, 2-amino-5-guanidinopentanoic acid, into, out of, within or between cells [goid 15809] [pmid 16251196] [evidence IDA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16044] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of macroautophagy [goid 16242] [evidence IEA]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 30163] [pmid 10740217] [evidence NAS]; The series of molecular signals generated as a consequence of glutamate binding to a cell surface receptor, followed by the movement of ions through a channel in the receptor complex [goid 35235] [evidence IEA]; The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell [goid 42133] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease [goid 42987] [pmid 10924275] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis in neurons [goid 43524] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein [goid 45861] [evidence IEA]; Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors [goid 50885] [evidence IEA]; Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion [goid 51453] [pmid 10924275] [evidence IDA]; The regulation of the levels, transport, and metabolism of calcium ions within the cytosol of a cell or between the cytosol and its surroundings [goid 51480] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in the presence of calcium [goid 48306] [evidence IEA]; Interacting selectively with an unfolded protein [goid 51082] [pmid 8980123] [evidence TAS]"	MGC102840; BTS	MGC102840; BTS
Nucleic acid binding -> Ribonucleoprotein	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_11692	ILMN_12734	U2AF1	NM_001025203.1	NM_001025203.1		7307	68800127	NM_001025203.1	U2AF1	NP_001020374.1	ILMN_1772113	1450102	A	630	GCGGGAGCTGTATGGCCGCCGTCGCAAGAAGCATAGATCAAGATCCCGAT	21	-	43386408-43386428:43387650-43387678	21q22.3c	"Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant b, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [pmid 9731529] [evidence IDA]; A class of nuclear body, first seen after silver staining by Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA [goid 15030] [pmid 1388271] [evidence TAS]"	"The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 9731529] [evidence IC ]; The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 12226669] [evidence EXP]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [pmid 1388271] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15652350] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11551507] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	RN; DKFZp313J1712; U2AFBP; U2AF35; RNU2AF1; FP793	RN; DKFZp313J1712; U2AFBP; U2AF35; RNU2AF1; FP793
Nucleic acid binding -> Ribonucleoprotein	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_12734	ILMN_12734	U2AF1	NM_001025203.1	NM_001025203.1		7307	68800127	NM_001025203.1	U2AF1	NP_001020374.1	ILMN_2362368	3930241	A	344	CAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGAC	21	-	43388655-43388704	21q22.3c	"Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant b, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [pmid 9731529] [evidence IDA]; A class of nuclear body, first seen after silver staining by Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA [goid 15030] [pmid 1388271] [evidence TAS]"	"The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 9731529] [evidence IC ]; The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 12226669] [evidence EXP]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [pmid 1388271] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15652350] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11551507] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	RN; DKFZp313J1712; U2AFBP; U2AF35; RNU2AF1; FP793	RN; DKFZp313J1712; U2AFBP; U2AF35; RNU2AF1; FP793
Transporter -> Cation transporter;Transporter -> Other transporter	Signal transduction -> Cell communication;Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_29304	ILMN_29304	SLC8A1	NM_021097.2	NM_021097.2		6546	115529447	NM_021097.2	SLC8A1	NP_066920.1	ILMN_1699520	6450288	S	2844	CCGGACTGCCAAGCTCCTCACATCCTGCCTCTTTGTGCTCCTATGGCTCT	2	-	40195949-40195998	2p22.1b	"Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane [goid 30315] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1374913] [evidence TAS]; Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane [goid 30315] [evidence IEA]"	"Any process that modulates the extent of heart contraction, changing the force with which blood is propelled [goid 2026] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; Any process that modulates the extent of heart contraction, changing the force with which blood is propelled [goid 2026] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [pmid 1374913] [evidence TAS]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [pmid 1374913] [evidence TAS]; A process whereby force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis [goid 6936] [pmid 1374913] [evidence TAS]; Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]"	"Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + Na+(out) = Ca2+(out) + Na+(in) [goid 5432] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + Na+(out) = Ca2+(out) + Na+(in) [goid 5432] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Catalysis of the transfer of sodium ions (Na+) from one side of a membrane to the other [goid 15081] [pmid 1374913] [evidence TAS]; Catalysis of the transfer of calcium (Ca) ions from one side of a membrane to the other [goid 15085] [pmid 1374913] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15297] [evidence IEA]; Interacting selectvely with a heat shock protein, any protein synthesized or activated in response to heat shock [goid 31072] [evidence IEA]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]"	FLJ43417; NCX1; FLJ37694; DKFZp779F0871; MGC119581	NCX1; DKFZp779F0871; FLJ43417; FLJ37694; MGC119581
Miscellaneous function -> Transmembrane receptor regulatory/adaptor protein	Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Cell cycle;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_28640	ILMN_28640	ANKS1B	NM_181670.2	NM_181670.2		56899	50511946	NM_181670.2	ANKS1B	NP_858056.2	ILMN_1758392	2350201	I	2561	AAATACTGGTGATGCTCCCTAGAGCAGGAGGCCCGGAAGTGCTGACGCAG	12	-	97662772-97662821	12q23.1c-q23.1d	"Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"			MGC26087; EB-1; ANKS2; AIDA-1; AIDA; cajalin-2	MGC26087; ANKS2; AIDA; cajalin-2; EB-1; AIDA-1
Hydrolase	Immunity and defense -> Detoxification;Other metabolism	Homo sapiens	RefSeq	ILMN_24421	ILMN_171728	ABHD11	NM_031295.3	NM_031295.3		83451	58430937	NM_031295.3	ABHD11	NP_112585.2	ILMN_1753912	3170639	I	617	TCCAGGAGCCATGCCTGAGACTCCCTATGTCTGCCTAAGACTGGTCCCAG	7	-	72789675-72789724	7q11.23b	"Homo sapiens abhydrolase domain containing 11 (ABHD11), transcript variant 4, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	WBSCR21; PP1226	WBSCR21; PP1226
Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel	Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission	Homo sapiens	RefSeq	ILMN_174764	ILMN_174764	KCNQ5	NM_019842.2	NM_019842.2		56479	28373064	NM_019842.2	KCNQ5	NP_062816.2	ILMN_2060268	1340220	S	2827	GTAAGGCAGGAGAAAGTACAGATGCCCTCAGCTTGCCTCATGTCAAACTG	6	+	73961803-73961852	6q13b-q13c	"Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), mRNA."	"A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 10787416] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 10787416] [evidence NAS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 10787416] [evidence TAS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	 [goid 5242] [pmid 10787416] [evidence TAS]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]	Kv7.5	Kv7.5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_13833	ILMN_13833	WFDC13	NM_172005.1	NM_172005.1		164237	25188180	NM_172005.1	WFDC13	NP_742002.1	ILMN_1723113	6110379	S	992	GCATGTAGCACCACCTGAGCCAGAAACTGCAGAGGACATGACAGTGTGGC	20	+	43770490-43770539	20q13.12b	"Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]		"Stops, prevents or reduces the activity of a protease, any enzyme catalyzes the hydrolysis peptide bonds [goid 30414] [evidence IEA]"	WAP13; dJ601O1.3; C20orf138	WAP13; dJ601O1.3; C20orf138
Transcription factor -> Zinc finger transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_4790	ILMN_183729	ZIC5	NM_033132.3	NM_033132.3		85416	118766336	NM_033132.3	ZIC5	NP_149123.2	ILMN_1783881	4120528	S	2146	AGCCACCTCCACACCCCTTCCAGCAACGGAACCACCTCTGAGACTGAAGA	13	-	99415677-99415726	13q32.3b	"Homo sapiens Zic family member 5 (odd-paired homolog, Drosophila) (ZIC5), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) [goid 30900] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_28029	ILMN_28029	WWP2	NM_199424.1	NM_199424.1		11060	40806210	NM_199424.1	WWP2	NP_955456.1	ILMN_1668847	450431	I	165	TACCGCCTCCTCCCCGTCGCTCTGCCTTTTCCAAAACTCACTTGGGCCCT	16	+	68516566-68516615	16q22.1e	"Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 2, mRNA."	"A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 9647693] [evidence TAS]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 9169421] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; The process by which a virion enters a host cell, including virion attachment and penetration [goid 46718] [pmid 12450395] [evidence TAS]"	"Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 9169421] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9647693] [evidence IPI]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA]"	AIP2; WWp2-like	WWp2-like; AIP2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4893	ILMN_181291	POLDIP2	NM_015584.3	NM_015584.3		26073	110227864	NM_015584.3	POLDIP2	NP_056399.1	ILMN_1743499	7200356	S	2295	CATGGCCGCAAGCTGGTCAAGGCCTGCTCACTGTAAACATGGCTCTGTAC	17	-	23698161-23698210	17q11.2a	"Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"			POLD4; PDIP38; DKFZP586F1524	POLD4; PDIP38; DKFZP586F1524
Nucleic acid binding -> Helicase -> RNA helicase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_25649	ILMN_25649	DDX6	NM_004397.3	NM_004397.3		1656	21536329	NM_004397.3	DDX6	NP_004388.1	ILMN_1777340	5560209	S	3897	CAGATGCCTCCTGATGGGACATAGCCCTAACTCCTTAACAACTGTAGCAA	11	-	118125862-118125911	11q23.3e	"Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress [goid 10494] [pmid 17392519] [evidence IDA]"		"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a RNA helix [goid 3724] [pmid 1579499] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17392519] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the unwinding of a DNA or RNA helix [goid 8026] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	P54; FLJ36338; RCK; HLR2	P54; HLR2; FLJ36338; RCK
		Homo sapiens	RefSeq	ILMN_8607	ILMN_8607	TTTY5	NR_001541.1	NR_001541.1		83863	32563543	NR_001541.1	TTTY5		ILMN_2164478	7380020	S	1193	CCCACCTCTGGCCAAACAAAGGTACACAAGGGGAAACAGGTGCAGGTGTG	Y	-	22852652-22852701	Yq11.223b	"Homo sapiens testis-specific transcript, Y-linked 5 (TTTY5), non-coding RNA."				TTY5	TTY5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27415	ILMN_27415	FAM131B	NM_001031690.1	NM_001031690.1		9715	72534671	NM_001031690.1	FAM131B	NP_001026860.1	ILMN_1652694	4760441	I	111	CCGAGTCGGTGAGGGCCCGGCTCTGCGGCCCCCGGAGCCATGGGCTGCAT	7	-	142769807-142769856	7q34f	"Homo sapiens family with sequence similarity 131, member B (FAM131B), mRNA."				KIAA0773	KIAA0773
Protease -> Metalloprotease	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_1988	ILMN_1988	PGCP	NM_016134.2	NM_016134.2		10404	21314657	NM_016134.2	PGCP	NP_057218.1	ILMN_2058795	2640377	S	1618	GGCCAGGAATCCTGGGTCTGCAACTTTGGAAAACTCCTCTTCACATAACA	8	+	98224620-98224669	8q22.1d-q22.1e	"Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10206990] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10206990] [evidence TAS]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 10206990] [evidence TAS]; The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another [goid 6518] [pmid 10206990] [evidence TAS]"	"Catalysis of the hydrolysis of C-terminal amino acid residues from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4181] [pmid 10206990] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 8237] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"
Membrane traffic protein -> Vesicle coat protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_8514	ILMN_8514	COPZ2	NM_016429.2	NM_016429.2		51226	116734720	NM_016429.2	COPZ2	NP_057513.1	ILMN_1667361	5820292	S	684	TTCCCCAATCCTGGCAAAAGCCCAAAGATCCCAGGGTCAGGAGAGACCCC	17	-	43458701-43458750	17q21.32b	"Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum [goid 5801] [pmid 11056392] [evidence NAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Any of several different proteinaceous coats that can associate with membranes. Membrane coats include those formed by clathrin plus an adaptor complex, the COPI and COPII complexes, and possibly others. They are found associated with membranes on many vesicles as well as other membrane features such as pits and perhaps tubules [goid 30117] [evidence IEA]; One of two multimeric complexes that forms a membrane vesicle coat. The mammalian COPI subunits are called alpha-, beta-, beta'-, gamma-, delta-, epsilon- and zeta-COP. Vesicles with COPI coats are found associated with Golgi membranes at steady state [goid 30126] [pmid 11056392] [evidence NAS]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [pmid 11056392] [evidence NAS]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	MGC23008	MGC23008
Transcription factor -> Other transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_26720	ILMN_26720	TSC22D1	NM_006022.2	NM_006022.2		8848	31543826	NM_006022.2	TSC22D1	NP_006013.1	ILMN_1692177	5260754	I	222	TCCCAATGGTGTAGACCAGTGGCGATGGATCTAGGAGTTTACCAACTGAG	13	-	43908708-43908757	13q14.11e	"Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9022669] [evidence TAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]	TSC22; TGFB1I4; RP11-269C23.2; DKFZp686O19206; MGC17597	TSC22; TGFB1I4; RP11-269C23.2; DKFZp686O19206; MGC17597
Transcription factor -> Other transcription factor;Nucleic acid binding	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8937	ILMN_175131	STAT4	NM_003151.2	NM_003151.2		6775	21618332	NM_003151.2	STAT4	NP_003142.1	ILMN_1785202	7320370	S	2409	CCCATGTCTCCAAGTGTGTATGCGGTGTTGAGAGAAAACCTGAGTCCCAC	2	-	191603958-191604007	2q32.3a	"Homo sapiens signal transducer and activator of transcription 4 (STAT4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; Any process by which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of cytokines to their cognate receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes [goid 7259] [pmid 9284918] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [evidence IEA]; Any series of molecular signals generated as a consequence of a cytokine or chemokine binding to a cell surface receptor [goid 19221] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9284918] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9989503] [evidence IPI]
Transcription factor -> Zinc finger transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_27398	ILMN_27398	ZXDC	NM_025112.3	NM_025112.3		79364	50843811	NM_025112.3	ZXDC	NP_079388.2	ILMN_1743643	5700132	S	2283	GGACCTCAGTGGCCTATTACGGAGCCCTCTTCCCAGACTAAATTCATAGC	3	-	127639274-127639323	3q21.2c	"Homo sapiens ZXD family zinc finger C (ZXDC), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 17493635] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ13861; DKFZp547N024; ZXDL; MGC11349	FLJ13861; DKFZp547N024; ZXDL; MGC11349
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9955	ILMN_9955	EME2	NM_001010865.1	NM_001010865.1		197342	58197551	NM_001010865.1	EME2	NP_001010865.1	ILMN_1771185	1470678	S	1262	CTGACCTCTCCCGCCGCATCTGCCTCTTCCTGACCACAGCCAACCCTGAT	16	+	1766167-1766216	16p13.3e	"Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [evidence IEA]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [evidence IEA]"	"Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks [goid 4519] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FLJ00151; gs125	FLJ00151; gs125
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4376	ILMN_4376	ANKRD42	NM_182603.1	NM_182603.1		338699	32699025	NM_182603.1	ANKRD42	NP_872409.1	ILMN_1676605	2120392	S	2211	TATAACCACTTCCTCAGTTTCTCTGGGTTTTGGTGTCTCACCAGTGGTTG	11	+	82637570-82637619	11q14.1d	"Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA."			Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	FLJ37874	FLJ37874
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_29861	ILMN_29861	SUV420H1	NM_016028.4	NM_016028.4		51111	50659083	NM_016028.4	SUV420H1	NP_057112.3	ILMN_1692026	3850343	I	2433	GCCCAACACTGGGTGCTCTCTTCCACTACAGAGAATCCTGAAGAAAAGGG	11	-	67689972-67690021	11q13.2a	"Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information [goid 5694] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives [goid 18024] [evidence IEA]"	MGC21161; KMT5B; MGC703; CGI-85; CGI85; MGC118909; MGC118906	MGC21161; KMT5B; MGC703; CGI-85; CGI85; MGC118909; MGC118906
Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> Other mRNA transcription;Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling	Homo sapiens	RefSeq	ILMN_20096	ILMN_20096	SMARCB1	NM_001007468.1	NM_001007468.1		6598	55956800	NM_001007468.1	SMARCB1	NP_001007469.1	ILMN_1758823	150021	A	1460	GTGGAGTGGGGGCTTCCAGGTGGCCCTTCCCGGCACACATTCCATTTGTT	22	+	22506489-22506538	22q11.23a	"Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA."	"A chromosome found in the nucleus of a eukaryotic cell [goid 228] [evidence IEA]; A structure found in a male mammalian spermatocyte containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery [goid 1741] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11430827] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 7801128] [evidence TAS]; Any of a family of protein complexes that regulate transcription by remodeling chromatin. Swi/Snf complexes comprise nine or more proteins, including both conserved (core) and nonconserved components; the Swi2/Snf2 ATPase is one of the core components [goid 16514] [pmid 8895581] [evidence IDA]"	"The hatching of the cellular blastocyst from the zona pellucida [goid 1835] [evidence IEA]; Dynamic structural changes to eukaryotic chromatin occurring throughout the cell division cycle. These changes range from the local changes necessary for transcriptional regulation to global changes necessary for chromosome segregation [goid 6338] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 7801128] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The process by which a segment of DNA is incorporated into another, usually larger, DNA molecule such as a chromosome [goid 15074] [pmid 7801128] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process involved in the replication of a retroviral genome. Retroviruses use RNA as their nucleic acid and reverse transcriptase to copy their genome into the DNA of the host cells chromosomes [goid 45090] [pmid 14963118] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15985610] [evidence IPI]	Sfh1p; SNF5; Snr1; SNF5L1; RDT; INI1; hSNFS; BAF47	Sfh1p; RDT; hSNFS; SNF5; Snr1; SNF5L1; INI1; BAF47
Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> Other mRNA transcription;Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling	Homo sapiens	RefSeq	ILMN_20096	ILMN_20096	SMARCB1	NM_001007468.1	NM_001007468.1		6598	55956800	NM_001007468.1	SMARCB1	NP_001007469.1	ILMN_2403458	130241	A	1156	TACGCCTTCAGCGAGAACCCTCTGCCCACAGTGGAGATTGCCATCCGGAA	22	+	22497592-22497602:22505759-22505797	22q11.23a	"Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA."	"A chromosome found in the nucleus of a eukaryotic cell [goid 228] [evidence IEA]; A structure found in a male mammalian spermatocyte containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery [goid 1741] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11430827] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 7801128] [evidence TAS]; Any of a family of protein complexes that regulate transcription by remodeling chromatin. Swi/Snf complexes comprise nine or more proteins, including both conserved (core) and nonconserved components; the Swi2/Snf2 ATPase is one of the core components [goid 16514] [pmid 8895581] [evidence IDA]"	"The hatching of the cellular blastocyst from the zona pellucida [goid 1835] [evidence IEA]; Dynamic structural changes to eukaryotic chromatin occurring throughout the cell division cycle. These changes range from the local changes necessary for transcriptional regulation to global changes necessary for chromosome segregation [goid 6338] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 7801128] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The process by which a segment of DNA is incorporated into another, usually larger, DNA molecule such as a chromosome [goid 15074] [pmid 7801128] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process involved in the replication of a retroviral genome. Retroviruses use RNA as their nucleic acid and reverse transcriptase to copy their genome into the DNA of the host cells chromosomes [goid 45090] [pmid 14963118] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15985610] [evidence IPI]	Sfh1p; SNF5; Snr1; SNF5L1; RDT; INI1; hSNFS; BAF47	Sfh1p; RDT; hSNFS; SNF5; Snr1; SNF5L1; INI1; BAF47
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11654	ILMN_11654	TNFRSF12A	NM_016639.1	NM_016639.1		51330	7706185	NM_016639.1	TNFRSF12A	NP_057723.1	ILMN_1689004	6510377	S	634	CAGAAAGGGAGCCTCACGCTGGCTCACACAAAACAGCTGACACTGACTAA	16	+	3012033-3012082	16p13.3d	"Homo sapiens tumor necrosis factor receptor superfamily, member 12A (TNFRSF12A), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The external part of the cell wall and/or plasma membrane [goid 9986] [evidence IEA]"	"Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; Any process involved in the controlled movement of a cell [goid 6928] [pmid 10551889] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 10551889] [evidence TAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; The formation of adhesions that stabilize protrusions at the leading edge of a migrating cell; involves integrin activation, clustering, and the recruitment of structural and signaling components to nascent adhesions [goid 6931] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of axon extension [goid 45773] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	CD266; FN14; TWEAKR	CD266; TWEAKR; FN14
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1779	ILMN_1779	ZNF829	NM_001037232.2	NM_001037232.2		374899	117956400	NM_001037232.2	ZNF829	NP_001032309.2	ILMN_2157843	2350400	S	1595	GGAATGTGGAAAGGCTTTTGGTAGTCGCTCTGACCTCATTCGCCATGAGG	19	-	42074250-42074299	19q13.12b	"Homo sapiens zinc finger protein 829 (ZNF829), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC129867; MGC129866; DKFZp686K21248; FLJ27459	MGC129867; MGC129866; DKFZp686K21248; FLJ27459
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_35313	ILMN_1779	ZNF829	NM_001037232.2	NM_001037232.2		374899	117956400	NM_001037232.2	ZNF829	NP_001032309.2	ILMN_1712605	7050059	A	623	GGAACAAGGAAAAGAGCCCTGGATGGTTGATAGAGAGCTGACTAGAGGCC	19	-	42090679-42090728	19q13.12b	"Homo sapiens zinc finger protein 829 (ZNF829), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC129867; MGC129866; DKFZp686K21248; FLJ27459	MGC129867; MGC129866; DKFZp686K21248; FLJ27459
Extracellular matrix	Biological process unclassified	Homo sapiens	RefSeq	ILMN_181100	ILMN_181100	LOC389286	NM_001018022.1	NM_001018022.1		389286	65283615	NM_001018022.1	LOC389286	NP_001018022.1	ILMN_2170625	6180445	S	2	TGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTG	2	+	201855047-201855096	2q33.1f	"Homo sapiens similar to FKSG62 (LOC389286), mRNA."				FKSG69	FKSG69
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11964	ILMN_11964	C19ORF31	NM_001014373.1	NM_001014373.1		404664	62122870	NM_001014373.1	C19orf31	NP_001014395.1	ILMN_2233279	4730356	S	2226	CAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAAAGCAAAACTCAGT	19	-	4858744-4858793	19p13.3c	"Homo sapiens chromosome 19 open reading frame 31 (C19orf31), mRNA."				FLJ40719	FLJ40719
Receptor -> Other receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Intracellular protein traffic;Protein targeting and localization -> Protein targeting	Homo sapiens	RefSeq	ILMN_16245	ILMN_16245	RAMP1	NM_005855.2	NM_005855.2		10267	73486764	NM_005855.2	RAMP1	NP_005846.1	ILMN_1764754	7050064	S	717	GAGTCCAGAGTAGCCGAGGCTCTGGTATTAACCTGGAAGCCCCCCTGGCT	2	+	238485302-238485351	2q37.3b	"Homo sapiens receptor (G protein-coupled) activity modifying protein 1 (RAMP1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9620797] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9620797] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; Any process that modulates the frequency, rate or extent of G-protein coupled receptor protein signaling pathway activity [goid 8277] [pmid 9620797] [evidence TAS]; The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; Any process that modulates the frequency, rate or extent of G-protein coupled receptor protein signaling pathway activity [goid 8277] [evidence IEA]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Enables the directed movement of proteins into, out of, within or between cells [goid 8565] [pmid 9620797] [evidence TAS]; Enables the directed movement of proteins into, out of, within or between cells [goid 8565] [evidence IEA]"
Synthase and synthetase -> Synthetase;Oxidoreductase -> Dehydrogenase;Transferase -> Acetyltransferase;Transferase -> Acyltransferase;Lyase -> Hydratase;Isomerase -> Epimerase/racemase;Ligase	Carbohydrate metabolism;Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Fatty acid beta-oxidation;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism;Coenzyme and prosthetic group metabolism -> Vitamin metabolism -> Vitamin biosynthesis	Homo sapiens	RefSeq	ILMN_788	ILMN_788	CDYL	NM_004824.2	NM_004824.2		9425	25777616	NM_004824.2	CDYL	NP_004815.2	ILMN_1721415	6450202	I	217	TCCTGAAGAGAAACAACGTGTCAGCACCAGATGGGCCTTCAGACCCCAGC	6	+	4661097-4661114:4679995-4680026	6p25.1c	"Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 1, mRNA."	"The ordered and organized complex of DNA and protein that forms the chromosome [goid 785] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The formation or destruction of chromatin structures [goid 6333] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 10192397] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; Catalysis of the reaction: acetyl-CoA + histone = CoA + acetyl-histone [goid 4402] [evidence IEA]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	CDYL1; MGC131936; DKFZP586C1622	CDYL1; MGC131936; DKFZP586C1622
Transcription factor;Miscellaneous function -> Other miscellaneous function protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_7530	ILMN_7530	SNW1	NM_012245.2	NM_012245.2		22938	18860912	NM_012245.2	SNW1	NP_036377.1	ILMN_1688413	830189	S	1737	TCTGGGTGCCAGATCCCAGCACTACTTTTTATTACTGGAGAAATGGGGGG	14	-	77254035-77254084	14q24.3d	"Homo sapiens SNW domain containing 1 (SNW1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9569025] [evidence TAS]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [pmid 15194481] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]"	"The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 15194481] [evidence IDA]; Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 9632709] [evidence TAS]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 10713164] [evidence IDA]"	"The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 9569025] [evidence TAS]; Interacting selectively with the Notch (N) protein, a surface receptor [goid 5112] [pmid 10713164] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16102918] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10713164] [evidence IPI]"	SKIIP; NCOA-62; Prp45; Bx42; MGC119379; SKIP; PRPF45	SKIIP; Prp45; SKIP; NCOA-62; Bx42; MGC119379; PRPF45
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10751	ILMN_10751	WDR45L	NM_019613.2	NM_019613.2		56270	19923554	NM_019613.2	WDR45L	NP_062559.1	ILMN_1685763	2600646	S	1780	GCCTGTGGTCTTCTCCGTACCCGCAACGTGGTCATCTGTGCCCGTGACGT	17	-	78166351-78166400	17q25.3h	"Homo sapiens WDR45-like (WDR45L), mRNA."				WIPI-3; WIPI3	WIPI-3; WIPI3
Nucleic acid binding -> RNA methyltransferase;Transferase -> Methyltransferase -> RNA methyltransferase;Nucleic acid binding -> RNA methyltransferase;Transferase -> Methyltransferase -> RNA methyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> rRNA metabolism	Homo sapiens	RefSeq	ILMN_24706	ILMN_24706	TFB2M	NM_022366.1	NM_022366.1		64216	11641288	NM_022366.1	TFB2M	NP_071761.1	ILMN_2067709	990100	S	1421	GTCTTGCACAAGCCAGGCAGATCATTTCTCCTAAGCTGATATCATTGGCT	1	-	244770799-244770848	1q44d	"Homo sapiens transcription factor B2, mitochondrial (TFB2M), nuclear gene encoding mitochondrial protein, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [pmid 12068295] [evidence IDA]"	"The covalent alteration of one or more nucleotides within an rRNA molecule to produce an rRNA molecule with a sequence that differs from that coded genetically [goid 154] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase [goid 6390] [pmid 12068295] [evidence IDA]"	"Catalysis of the dimethylation two adjacent A residues in the loop closing the 3'-terminal stem of the 18S rRNA, using S-adenosyl-L-methionine as a methyl donor [goid 179] [evidence IEA]; The function that links a sequence-specific transcription factor to the core RNA polymerase II complex but does not bind DNA itself [goid 3712] [pmid 12068295] [evidence IDA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a nucleoside residue in an rRNA molecule [goid 8649] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	FLJ22661; Hkp1; FLJ23182	FLJ22661; Hkp1; FLJ23182
Molecular function unclassified	Immunity and defense -> T-cell mediated immunity	Homo sapiens	RefSeq	ILMN_29440	ILMN_29440	VTCN1	NM_024626.2	NM_024626.2		79679	99028880	NM_024626.2	VTCN1	NP_078902.2	ILMN_1753101	1090048	S	2470	CCCACACTCTTCATGTGTTAACCACTGCCTTCCTGGACCTTGGAGCCACG	1	-	117487817-117487866	1p13.1a	"Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]		FLJ22418; B7h.5; B7-H4; B7X; B7H4; PRO1291; B7S1; VCTN1; RP11-229A19.4	B7h.5; B7X; B7H4; VCTN1; FLJ22418; B7-H4; PRO1291; B7S1; RP11-229A19.4
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14959	ILMN_14959	LRRC31	NM_024727.2	NM_024727.2		79782	113205084	NM_024727.2	LRRC31	NP_079003.2	ILMN_1803528	5310328	S	2093	TGGTACTGCAACTGCTTTCCTCTTGCCCAGAAATGTTTTGCCTCTTCTTT	3	-	171040057-171040106	3q26.2b	"Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	FLJ40019; FLJ23259	FLJ40019; FLJ23259
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling	Homo sapiens	RefSeq	ILMN_11251	ILMN_11251	PTGER3	NM_198719.1	NM_198719.1		5733	38505187	NM_198719.1	PTGER3	NP_942012.1	ILMN_1677384	2680441	I	2071	ACAAAGGAGTGATGCAGCTAAGGGCATCCTTGGAGTGTCATAAAAAACAA	1	-	71209284-71209333	1p31.1j	"Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 9, mRNA."	"Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9073510] [evidence NAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [pmid 10336471] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10336471] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8307176] [evidence TAS]"	"The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; A rise in body temperature above the normal, often as a response to infection [goid 1660] [evidence IEA]; The synthesis of RNA on a template of DNA [goid 6351] [pmid 10336471] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 8307176] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of adenylyl cyclase activity and a subsequent change in the concentration of cyclic AMP [goid 7188] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by the activation of phospholipase C and the subsequent release of inositol trisphosphate [goid 7200] [evidence IEA]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [evidence IEA]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [pmid 10947062] [evidence TAS]; The directed movement of bicarbonate into, out of, within or between cells [goid 15701] [evidence IEA]; The process of renal water excretion [goid 30146] [evidence IEA]"	Combining with prostaglandin E (PGE(2)) to initiate a change in cell activity [goid 4957] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with prostaglandin E (PGE(2)) to initiate a change in cell activity [goid 4957] [pmid 9073510] [evidence NAS]; Combining with prostaglandin E (PGE(2)) to initiate a change in cell activity [goid 4957] [evidence IEA]; A ligand-dependent receptor found in the nucleus of the cell [goid 4879] [pmid 10336471] [evidence TAS]; Combining with prostaglandin E (PGE(2)) to initiate a change in cell activity [goid 4957] [evidence IEA]; Combining with prostaglandin E (PGE(2)) to initiate a change in cell activity [goid 4957] [pmid 10947062] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	EP3-III; EP3-I; MGC141829; EP3-II; EP3; EP3e; MGC27302; MGC141828; EP3-IV	EP3-III; EP3-II; EP3e; MGC27302; MGC141828; EP3-I; MGC141829; EP3; EP3-IV
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8163	ILMN_166330	ZBTB39	NM_014830.1	NM_014830.1		9880	7662071	NM_014830.1	ZBTB39	NP_055645.1	ILMN_1681154	6400672	S	5880	TTAAAACCCTTCCCCTGTCCAATCCACTCGCCGCCCCCACCTTGAATAGC	12	-	55679125-55679174	12q13.3a	"Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA0352	KIAA0352
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Signal transduction -> Intracellular signaling cascade -> NF-kappaB cascade;Immunity and defense;Apoptosis -> Inhibition of apoptosis;Developmental processes;Cell cycle -> Cell cycle control;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_163516	ILMN_163516	REL	NM_002908.2	NM_002908.2		5966	56550118	NM_002908.2	REL	NP_002899.1	ILMN_2124064	1030441	S	1726	CCAGCAGTGACAGCATGGGAGAGACTGATAATCCAAGACTTCTGAGCATG	2	+	61002816-61002865	2p16.1a	"Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels [goid 1816] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of an I-kappaB kinase/NF-kappaB induced cascade [goid 43123] [pmid 12761501] [evidence IEP]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of interleukin-12 [goid 45084] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 8423996] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15799966] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10498867] [evidence IPI]	C-Rel	C-Rel
Select regulatory molecule -> G-protein -> Small GTPase	Signal transduction -> Intracellular signaling cascade;Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis;Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_23148	ILMN_172352	RABL3	NM_173825.3	NM_173825.3		285282	115529441	NM_173825.3	RABL3	NP_776186.2	ILMN_1662306	5860110	S	348	GCGTCGTTGGTCATTGGAAGCTCTCAACAGGGATTTGGTGCCAACTGGAG	3	-	121907552-121907601	3q13.33b	"Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [evidence IEA]"	MGC23920	MGC23920
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_20890	ILMN_20890	PRAMEF4	NM_001009611.1	NM_001009611.1		400735	59958372	NM_001009611.1	PRAMEF4	NP_001009611.1	ILMN_2221768	4060142	S	1686	TGGATTCGATGGGACTTTGGGGACCTGTGTCCTGTAGAGTCGAAAATGGG	1	-	12861724-12861773	1p36.21d	"Homo sapiens PRAME family member 4 (PRAMEF4), mRNA."				RP5-845O24.6	RP5-845O24.6
Cell adhesion molecule -> Cadherin	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_25833	ILMN_25833	PCDH11Y	NM_032971.1	NM_032971.1		83259	14589941	NM_032971.1	PCDH11Y	NP_116753.1	ILMN_1688861	1110064	I	461	TCTTGTGAAGAAGCTGACAAGCTTGGCTGATTGCAGTGCACTATGAGGAC	Y	+	4960027-4960052:4960711-4960734	Yp11.2k-p11.2j	"Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant a, mRNA."	"A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of an adhesion molecule in one cell to an identical molecule in an adjacent cell [goid 7156] [evidence IEA]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	PCDH-PC; PCDH11X; PCDH22; PCDHY	PCDH-PC; PCDH22; PCDH11X; PCDHY
Select regulatory molecule -> Protease inhibitor -> Cysteine protease inhibitor	Immunity and defense -> Blood clotting;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation	Homo sapiens	RefSeq	ILMN_22281	ILMN_22281	KNG1	NM_000893.2	NM_000893.2		3827	38455404	NM_000893.2	KNG1	NP_000884.1	ILMN_1753729	1450619	S	1504	GCAGAATCTTCACTCCAGGCACATAGCCCCAACCACCTCTGCCAGCAACC	3	+	187944276-187944325	3q27.3a	"Homo sapiens kininogen 1 (KNG1), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]"	"A process whereby force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length [goid 6939] [pmid 11385996] [evidence TAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 11385996] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion [goid 7162] [pmid 11970955] [evidence IDA]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 16014619] [evidence IDA]; The process of renal water excretion [goid 30146] [pmid 11385996] [evidence TAS]; The process of renal sodium excretion [goid 30147] [pmid 11385996] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation [goid 30195] [pmid 11970955] [evidence IDA]; An increase in the internal diameter of blood vessels, especially arterioles or capillaries, usually resulting in a decrease in blood pressure [goid 42311] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 12715893] [evidence NAS]"	" [goid 4869] [evidence IEA];  [goid 4869] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [pmid 11290596] [evidence IPI]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [pmid 12911595] [evidence NAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 12911595] [evidence NAS];  [goid 4869] [evidence IEA]"	kininogen; KNG; BDK	kininogen; KNG; BDK
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25235	ILMN_25235	VGLL3	NM_016206.2	NM_016206.2		389136	56550034	NM_016206.2	VGLL3	NP_057290.2	ILMN_1714586	450626	S	9893	ATCTGTTCCCCTTTAAGCATGACACTCTATCCTTTCTTGTGGATCTTGCT	3	-	87070266-87070315	3p12.1a	"Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Plays a role in regulating transcription; may bind a promoter or enhancer DNA sequence or interact with a DNA-binding transcription factor [goid 30528] [evidence IEA]	VGL-3; DKFZp686O1845; VGL3; FLJ38507	VGL-3; DKFZp686O1845; VGL3; FLJ38507
Ion channel -> Anion channel	Transport -> Ion transport -> Anion transport	Homo sapiens	RefSeq	ILMN_15602	ILMN_15602	CLCNKA	NM_004070.3	NM_004070.3		1187	112382219	NM_004070.3	CLCNKA	NP_004061.3	ILMN_1787576	3930523	S	2476	CCTCTGGGGTTGTCTGGTTCCCAGTGAGAGGCTCCTGAGAAAAATAAAGC	1	+	16233072-16233121	1p36.13f	"Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8041726] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 8041726] [evidence TAS]"	Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a chloride ion by a voltage-gated channel [goid 5247] [pmid 8041726] [evidence TAS]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]	CLCK1; ClC-K1; hClC-Ka; MGC61490	CLCK1; hClC-Ka; MGC61490; ClC-K1
Molecular function unclassified	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Cell cycle -> Cell cycle control;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_15515	ILMN_15515	PHB2	NM_007273.3	NM_007273.3		11331	31543548	NM_007273.3	PHB2	NP_009204.1	ILMN_1696087	4060722	S	1073	GGGTAAGAAATGAGCCTAGTCACCAAGAACTCCACCCCCAGAGGAAGTGG	12	-	6945071-6945108:6945109-6945120	12p13.31d	"Homo sapiens prohibitin 2 (PHB2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence ISS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence ISS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 10359819] [evidence NAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10359819] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11302691] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Any activity that stops or downregulates transcription of specific genes or sets of genes [goid 16566] [pmid 10359819] [evidence IDA]; Interacting selectively with an estrogen receptor [goid 30331] [pmid 10359819] [evidence NAS]	MGC117268; BCAP37; BAP; Bap37; REA; p22; PNAS-141	MGC117268; BCAP37; BAP; REA; p22; Bap37; PNAS-141
Signaling molecule -> Growth factor;Signaling molecule -> Peptide hormone	Signal transduction -> Cell surface receptor mediated signal transduction;Developmental processes -> Mesoderm development;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_6502	ILMN_6502	TFF3	NM_003226.2	NM_003226.2		7033	48928026	NM_003226.2	TFF3	NP_003217.2	ILMN_1811387	7570484	S	608	GCCTGATGTCTTAACGAATAAAGGTCCCATGCTCCACCCGAGGACAGTTC	21	-	42605242-42605291	21q22.3b	"Homo sapiens trefoil factor 3 (intestinal) (TFF3), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8454642] [evidence TAS]	"Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack [goid 6952] [pmid 8454642] [evidence TAS]; The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism [goid 7586] [pmid 8454642] [evidence TAS]; The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism [goid 7586] [pmid 9043862] [evidence TAS]"		TFI; HITF; hP1.B; ITF	TFI; hP1.B; HITF; ITF
Signaling molecule -> Membrane-bound signaling molecule	Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Cell communication -> Ligand-mediated signaling	Homo sapiens	RefSeq	ILMN_18185	ILMN_18185	EFNA4	NM_005227.2	NM_005227.2		1945	33359684	NM_005227.2	EFNA4	NP_005218.1	ILMN_1665696	1780278	I	619	GGGGACACTCCCAGCCCCCTCTGTCTCTTGCTATTACTGCTGCTTCTGAT	1	+	153308015-153308064	1q22a	"Homo sapiens ephrin-A4 (EFNA4), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8660976] [evidence TAS]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"	Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8660976] [evidence TAS]	 [goid 5005] [pmid 8660976] [evidence TAS]	MGC125826; EPLG4; EFL4; LERK4	EFL4; LERK4; MGC125826; EPLG4
Ion channel -> Other ion channel	Signal transduction -> Intracellular signaling cascade -> Calcium mediated signaling;Transport -> Ion transport -> Cation transport;Sensory perception -> Vision	Homo sapiens	RefSeq	ILMN_1294	ILMN_1294	TRPC7	NM_020389.1	NM_020389.1		57113	9966864	NM_020389.1	TRPC7	NP_065122.1	ILMN_1683909	4900594	S	2488	GCTACTGGTGAGCTGGCAGACCTGATTCAACAACTCAGCGAGAAGTTTGG	5	-	135577073-135577122	5q31.2a	"Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]"	Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of facilitated diffusion of a calcium (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5262] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15757897] [evidence IPI]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of facilitated diffusion of a calcium (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5262] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of facilitated diffusion of a calcium (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5262] [evidence IEA]	TRP7	TRP7
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16391	ILMN_183871	OR7C1	NM_198944.1	NM_198944.1		26664	39812354	NM_198944.1	OR7C1	NP_945182.1	ILMN_1729874	6110070	S	680	GGATTTCCTCAGCTGGGAGAAAGCACAAAGCGTTTTCCACCTGTGGTTCC	19	-	14771219-14771268	19p13.12b	"Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 9268701] [evidence TAS]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	CIT-HSP-146E8; OR7C4; TPCR86; HSTPCR86P; OR19-5	CIT-HSP-146E8; OR7C4; TPCR86; HSTPCR86P; OR19-5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6664	ILMN_163400	TAS2R49	NM_176889.1	NM_176889.1		259295	28882046	NM_176889.1	TAS2R49	NP_795370.1	ILMN_1772091	7510196	S	881	TGTGGCAGGTGACTTGCTGGGCAAAAGGACAGAACCAGTCAACTCCATAG				12p13.2b	"Homo sapiens taste receptor, type 2, member 49 (TAS2R49), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA [goid 6413] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]; The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells [goid 50909] [evidence IEA]"	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide [goid 3743] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]	MGC119120; MGC119118; MGC119119; MGC119121; T2R56; T2R49; MGC134637	MGC119118; MGC119120; MGC119119; MGC119121; T2R56; T2R49; MGC134637
		Homo sapiens	RefSeq	ILMN_37759	ILMN_37759	LOC389031	XM_940482.1	XM_940482.1		389031	88957163	XM_940482.1	LOC389031	XP_945575.1	ILMN_1793529	3060424	S	62	GCGTGGCCATCGGGGGCATCATCAAAGAGGCAAAGCCAGGCAAAGTCTTG					"PREDICTED: Homo sapiens myosin (LOC389031), mRNA."
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation	Homo sapiens	RefSeq	ILMN_29690	ILMN_29690	HIPK2	NM_022740.2	NM_022740.2		28996	46852175	NM_022740.2	HIPK2	NP_073577.2	ILMN_1687440	10332	S	2674	ACGGGTCGGGACACCAGTGAAACTTGAACCGGGAAGTGGGAGGACGTAGA	7	-	138907989-138908038	7q34b	"Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12220523] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence ISS]; Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins [goid 16604] [pmid 14626429] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; Any process induced by intracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8629] [pmid 15122315] [evidence NAS]; Interactions, directly with the host cell macromolecular machinery, to allow virus replication [goid 19048] [pmid 14990717] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity [goid 30511] [pmid 14678985] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade [goid 46330] [pmid 14678985] [evidence IMP]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [pmid 9748262] [evidence TAS]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12220523] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a virion, either by binding to components of the capsid or the viral envelope [goid 46790] [pmid 14990717] [evidence IPI]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	PRO0593	PRO0593
		Homo sapiens	RefSeq	ILMN_17831	ILMN_163007	DMPK	NM_001081562.1	NM_001081562.1		1760	126091039	NM_001081562.1	DMPK	NP_001075031.1	ILMN_1689828	3930164	S	2695	TCCGACTCGCTGACAGGCTACAGGACCCCCAACAACCCCAATCCACGTTT	19	-	50964917-50964966	19q13.32a	"Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 4, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane [goid 43231] [pmid 18029348] [evidence IDA]"	"The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 1310900] [evidence TAS]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 10913253] [evidence IDA]; Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body [goid 8016] [pmid 15598648] [evidence IDA]; Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction [goid 51056] [evidence IPI]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [pmid 10913253] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 10913253] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [evidence IPI]"	MDPK; DMK; DM1PK; MT-PK; DM1; DM	MDPK; MT-PK; DM1; DM; DMK; DM1PK
Molecular function unclassified	Phosphate metabolism -> Regulation of phosphate metabolism	Homo sapiens	RefSeq	ILMN_9438	ILMN_9438	MAPBPIP	NM_014017.1	NM_014017.1		28956	7661727	NM_014017.1	MAPBPIP	NP_054736.1	ILMN_1756352	2230187	S	234	GGGCCGCCTACGACCGGAACGGGAACCAAGCGTTTAATGAAGACAATCTC	1	+	154291767-154291816	1q22c	"Homo sapiens mitogen-activated protein-binding protein-interacting protein (MAPBPIP), mRNA."	"The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding a late endosome [goid 31902] [evidence IEA]"			HSPC003; RP11-336K24.9; p14	HSPC003; RP11-336K24.9; p14
Nucleic acid binding -> mRNA processing factor -> mRNA splicing factor	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_21402	ILMN_21402	SNRPN	NM_022807.2	NM_022807.2		6638	29540554	NM_022807.2	SNRPN	NP_073718.1	ILMN_1662019	3460224	I	254	CCACCTGATGAAAGATACACCACAGGGTGAGAGCATCCTAACAGCAAACT	15	+	22626087-22626136	15q11.2e	"Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 4, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [pmid 1533223] [evidence TAS]; A complex composed of RNA of the small nuclear RNA (snRNA) class and protein, found in the nucleus of a eukaryotic cell. These are typically named after the snRNA(s) they contain, e.g. U1 snRNP or U4/U6 snRNP. Many, but not all, of these complexes are involved in splicing of nuclear mRNAs [goid 30532] [pmid 7512861] [evidence TAS]"	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [pmid 1533223] [evidence TAS]	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 14715275] [evidence IPI]	SNURF-SNRPN; HCERN3; SMN; RT-LI; SM-D; SNRNP-N	SMN; SM-D; SNRNP-N; SNURF-SNRPN; HCERN3; RT-LI
Protease -> Cysteine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_7894	ILMN_7894	USP2	NM_171997.1	NM_171997.1		9099	28565284	NM_171997.1	USP2	NP_741994.1	ILMN_1755502	5080497	I	284	CCGTCCCTGCTGCTCTCCACCTTCGTGGGGCTCCTGCTCAACAAAGCCAA	11	-	118739769-118739818	11q23.3f	"Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 18029348] [evidence IDA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [pmid 9827704] [evidence TAS]; Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16189514] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]"	USP9; UBP41	USP9; UBP41
Transferase -> Glycosyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism	Homo sapiens	RefSeq	ILMN_5225	ILMN_5225	UGT2B11	NM_001073.1	NM_001073.1		10720	4507822	NM_001073.1	UGT2B11	NP_001064.1	ILMN_2162819	70253	S	1413	GCCCCACAAAGGAGCCAAACACCTTCGAGTTGCAGCCCATGACCTCACCT	4	-	70100883-70100932	4q13.2c	"Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to living organisms. Used of chemical compounds, e.g. a xenobiotic chemical, such as a pesticide [goid 6805] [pmid 8333863] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants [goid 8210] [pmid 8333863] [evidence TAS]"	Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside [goid 15020] [evidence IEA]	MGC129612; MGC129611	MGC129612; MGC129611
Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription initiation;Oncogenesis	Homo sapiens	RefSeq	ILMN_177996	ILMN_177996	PHF16	NM_014735.3	NM_014735.3		9767	117190332	NM_014735.3	PHF16	NP_055550.1	ILMN_2279144	6660224	I	174	AAGAGAAGAAAGCGAGCGGTTAGGGGGGCGGTTACCACTCCGACCGGACT	X	+	46656985-46657034	Xp11.3a	"Homo sapiens PHD finger protein 16 (PHF16), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC138748; KIAA0215; JADE3; MGC138749	KIAA0215; JADE3; MGC138749; MGC138748
		Homo sapiens	RefSeq	ILMN_45268	ILMN_45268	LOC285359	NR_002941.1	NR_002941.1		285359	89994738	NR_002941.1	LOC285359		ILMN_2128623	6980059	S	1597	ACCCCCCAAGGAAAGTCTGAAAGAATTGGAAGAGGAGGCAGAAGAGGAGC	3	+	102914068-102914117	3q12.3a	Homo sapiens phosducin-like 3 pseudogene (LOC285359) on chromosome 3.
Transporter -> Other transporter	Transport -> Other transport;Homeostasis -> Other homeostasis activities	Homo sapiens	RefSeq	ILMN_24856	ILMN_24856	AQP4	NM_001650.4	NM_001650.4		361	50659061	NM_001650.4	AQP4	NP_001641.1	ILMN_1676649	2070161	I	43	TGCACTCTGGCTGGGGAAGGCATGAGTGACAGACCCACAGCAAGGCGGTG	18	-	22699622-22699651:22699652-22699671	18q11.2e	"Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 8855281] [evidence NAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7528931] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of water (H2O) into, out of, within or between cells [goid 6833] [pmid 8855281] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 7559426] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 7528931] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 7528931] [evidence TAS]"	"Enables the directed movement of water (H2O) into, out of, within or between cells [goid 5372] [pmid 8855281] [evidence NAS]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Enables the directed movement of water (H2O) into, out of, within or between cells [goid 5372] [pmid 7559426] [evidence TAS]"	MIWC; HMIWC2; MGC22454	MIWC; HMIWC2; MGC22454
Transporter -> Other transporter	Transport -> Other transport;Homeostasis -> Other homeostasis activities	Homo sapiens	RefSeq	ILMN_21851	ILMN_24856	AQP4	NM_001650.4	NM_001650.4		361	50659061	NM_001650.4	AQP4	NP_001641.1	ILMN_1747683	2750176	A	4298	CTAGAAGGCCTCTGATTGCAGCATGTTGACACCAACCTCACGTTACGAAC	18	-	22686860-22686909	18q11.2e	"Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 8855281] [evidence NAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7528931] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of water (H2O) into, out of, within or between cells [goid 6833] [pmid 8855281] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 7559426] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 7528931] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 7528931] [evidence TAS]"	"Enables the directed movement of water (H2O) into, out of, within or between cells [goid 5372] [pmid 8855281] [evidence NAS]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Enables the directed movement of water (H2O) into, out of, within or between cells [goid 5372] [pmid 7559426] [evidence TAS]"	MIWC; HMIWC2; MGC22454	MIWC; HMIWC2; MGC22454
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15230	ILMN_15230	OR8B3	NM_001005467.1	NM_001005467.1		390271	53793666	NM_001005467.1	OR8B3	NP_001005467.1	ILMN_1719241	6650187	S	565	TGCACCAGCACCTATGTCAACGAGGTGGTTGTTCTCATTGTTGTGGGTAT	11	-	123771843-123771892	11q24.2a	"Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	OR11-311	OR11-311
Transferase -> Other transferase	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism	Homo sapiens	RefSeq	ILMN_26045	ILMN_26045	GLYATL2	NM_145016.2	NM_145016.2		219970	31542212	NM_145016.2	GLYATL2	NP_659453.2	ILMN_2161820	270170	S	1013	GAGGGCCAGCTTGTCTCTTGGATTGTGATGGAACGGTCCTGTGAGTTGAG	11	-	58358691-58358740	11q12.1c	"Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"		"Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: acyl-CoA + glycine = CoA + N-acylglycine [goid 47961] [evidence IEA]"	MGC24009; BXMAS2-10	BXMAS2-10; MGC24009
Hydrolase -> Lipase -> Phospholipase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Signal transduction	Homo sapiens	RefSeq	ILMN_13069	ILMN_13069	PLA2G2A	NM_000300.2	NM_000300.2		5320	20149501	NM_000300.2	PLA2G2A	NP_000291.1	ILMN_1740586	4860152	S	795	ATGCAGAAAGCATCCCTCACCCATCCTAGAGGCCAGGCAGGAGCCCTTCT	1	-	20174643-20174692	1p36.13a	"Homo sapiens phospholipase A2, group IIA (platelets, synovial fluid) (PLA2G2A), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9272153] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 11256614] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 6644] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]"	"Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate; requires Ca2+ [goid 47498] [pmid 9272153] [evidence TAS]"	sPLA2; PLAS1; PLA2S; PLA2L; PLA2; MOM1; PLA2B	sPLA2; PLAS1; PLA2S; PLA2; PLA2L; MOM1; PLA2B
		Homo sapiens	RefSeq	ILMN_26527	ILMN_307125	NAT15	NM_001083601.1	NM_001083601.1		79903	134254454	NM_001083601.1	NAT15	NP_001077070.1	ILMN_1813423	4590451	S	2478	GTGATTTCTATTTCTGCCCCACAGGGTAAGGGACGAGTCTTCTGGAAGGC	16	+	3476764-3476813	16p13.3c	"Homo sapiens N-acetyltransferase 15 (GCN5-related, putative) (NAT15), transcript variant 1, mRNA."				FLJ11693	FLJ11693
Receptor -> Ligand-gated ion channel -> Other ligand-gated ion channel;Ion channel -> Ligand-gated ion channel -> Other ligand-gated ion channel	Signal transduction;Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Nerve-nerve synaptic transmission;Neuronal activities -> Synaptic transmission -> Neuromuscular synaptic transmission;Sensory perception -> Hearing;Sensory perception -> Pain sensation;Blood circulation and gas exchange -> Regulation of vasoconstriction, dilation	Homo sapiens	RefSeq	ILMN_10544	ILMN_10544	P2RX5	NM_175081.1	NM_175081.1		5026	28416936	NM_175081.1	P2RX5	NP_778256.1	ILMN_1734964	6650754	I	819	TGAGTGGCTGCAGCCTCAGGACCCTGAGGGGTTTCCCAGCCCCGTGCGGT	17	-	3540418-3540465:3540466-3540467	17p13.3a	"Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 3, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9414125] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 9414125] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 9414125] [evidence TAS]; Any process that increases the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 10524] [pmid 17895406] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling [goid 50850] [pmid 17895406] [evidence NAS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]"	"Combining with a purine nucleotide to initiate a change in cell activity [goid 1614] [pmid 17895406] [evidence NAS]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 9414125] [evidence TAS]; Catalysis of the transmembrane transfer of an ion by a channel that opens when extracellular ATP has been bound by the channel complex or one of its constituent parts [goid 4931] [pmid 17895406] [evidence NAS]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [pmid 9414125] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 17895406] [evidence NAS]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 17895406] [evidence NAS]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	P2X5; P2X5R; MGC47755	P2X5; P2X5R; MGC47755
Chaperone -> Chaperonin	Protein metabolism and modification -> Protein folding;Protein metabolism and modification -> Protein complex assembly	Homo sapiens	RefSeq	ILMN_27812	ILMN_27812	PIP5K3	NM_152671.3	NM_152671.3		200576	121583881	NM_152671.3	PIP5K3	NP_689884.1	ILMN_1742197	4210563	I	1551	GGCCATAGGATCTCATGCCAGCCTGTCCTTCTGGCTTCCTCTGTCCCACG	2	+	208878030-208878079	2q33.3d	"Homo sapiens phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III (PIP5K3), transcript variant 3, mRNA."	"A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding an early endosome [goid 31901] [pmid 16954148] [evidence IDA]; The lipid bilayer surrounding an early endosome [goid 31901] [pmid 16448788] [evidence IDA]; Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions [goid 45121] [pmid 15046600] [evidence IDA]"	"The uptake of external materials by cells, utilizing receptors to ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles [goid 6898] [pmid 14551253] [evidence IMP]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport [goid 42147] [pmid 16954148] [evidence IMP]; The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport [goid 42147] [pmid 14551253] [evidence IMP]; The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes protein modification [goid 44267] [evidence IEA]; The directed movement of a protein to a specific location [goid 45184] [pmid 17909029] [evidence IMP]; The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid with its sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol [goid 46488] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17909029] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate [goid 16308] [pmid 15046600] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]"	PIP5K; CFD; MGC40423; PIKFYVE; KIAA0981	PIP5K; CFD; MGC40423; PIKFYVE; KIAA0981
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Sensory perception -> Chemosensory perception -> Olfaction	Homo sapiens	RefSeq	ILMN_7969	ILMN_181962	OR5AP2	NM_001002925.1	NM_001002925.1		338675	50979289	NM_001002925.1	OR5AP2	NP_001002925.1	ILMN_1780952	5490370	S	558	CACCCCGCCACTGCTCAAACTCTCTTGCTCTGATACCCACTTCAATGGCA	11	-	56165884-56165933	11q11c	"Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	OR9J1	OR9J1
Transferase -> Other transferase	Amino acid metabolism -> Amino acid biosynthesis;Protein metabolism and modification -> Protein modification	Homo sapiens	RefSeq	ILMN_6510	ILMN_6510	QPCT	NM_012413.3	NM_012413.3		25797	68216098	NM_012413.3	QPCT	NP_036545.1	ILMN_2113049	1820075	S	1515	TCAACGATAGTTTCTCAACAGTACTTAAATAGCGGTTGGAAAACGTAGCC	2	+	37453781-37453830	2p22.2a	"Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA."		"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 7999256] [evidence TAS]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]"	"Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the reaction: L-glutaminyl-peptide = 5-oxoprolyl-peptide + NH3 [goid 16603] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	QC; GCT	QC; GCT
Ligase -> Other ligase	Protein metabolism and modification -> Protein modification	Homo sapiens	RefSeq	ILMN_781	ILMN_781	UBE2F	NM_080678.1	NM_080678.1		140739	18087856	NM_080678.1	UBE2F	NP_542409.1	ILMN_2164242	20491	S	752	CCCCTGGATTGCCCCAGTCCTGTGACCATGTTGCCCTGAAGAAGACCATC	2	+	238614821-238614870	2q37.3b	"Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), mRNA."		"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]"	"Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of ATP-dependent isopeptide bond formation between the carboxy-terminal residues of a small conjugating protein such as ubiquitin or a ubiquitin-like protein, and a substrate lysine residue. This function may be performed alone or in conjunction with an E3, ubiquitin-like protein ligase [goid 19787] [evidence IEA]"	MGC18120; NCE2	NCE2; MGC18120
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8077	ILMN_8077	C11ORF65	NM_152587.3	NM_152587.3		160140	115298675	NM_152587.3	C11orf65	NP_689800.3	ILMN_2045800	620246	S	616	GTGGATGAGGCAAATGTACTACTCAGGAAGTCTGGAGGCTAAGTCAACAC	11	-	107769280-107769315:107781366-107781379	11q22.3c	"Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA."				MGC33948	MGC33948
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17546	ILMN_163822	LOC441956	XM_498859.2	XM_498859.2		441956	89047339	XM_498859.2	LOC441956	XP_498859.2	ILMN_1762170	7570168	A	260	GGCAGGAACCACCTTCCTCCAAGATCCTCACTATGGCAACTGTGGACCCC				21q11.2b	"PREDICTED: Homo sapiens similar to cDNA sequence BC021523 (LOC441956), mRNA."
Signaling molecule -> Growth factor;Hydrolase -> Deaminase	Developmental processes	Homo sapiens	RefSeq	ILMN_10713	ILMN_10713	CECR1	NM_017424.2	NM_017424.2		51816	29029549	NM_017424.2	CECR1	NP_059120.2	ILMN_1686283	4010427	I	691	CCAAGTGGATTCTGCTGGAGGATTATCGGAAGCGGGTGCAGAACGTCACT	22	-	16067974-16068023	22q11.1d	"Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 10756095] [evidence NAS]; The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a glycosamine consisting of a purine base linked to a ribose sugar esterified with phosphate on its glycose moiety [goid 9168] [evidence IEA]"	"The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 10756095] [evidence NAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the removal of an amino group from a substrate, producing ammonia (NH3) [goid 19239] [evidence IEA]"	ADGF; IDGFL	ADGF; IDGFL
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25278	ILMN_25278	C7ORF45	NM_145268.2	NM_145268.2		136263	24432075	NM_145268.2	C7orf45	NP_660311.1	ILMN_1809612	7510059	S	1629	GCTAAAGGCAGGCCAAGGACTTACACATCAAAAGTGGAGAATGAGGCCAG	7	+	129644407-129644456	7q32.2b	"Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ40316	FLJ40316
Protease -> Aspartic protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_12115	ILMN_12115	NAPSA	NM_004851.1	NM_004851.1		9476	4758753	NM_004851.1	NAPSA	NP_004842.1	ILMN_1784040	2100296	S	1080	GTCATCCAGACTACTCGAAATGGCGTCCGCCTCTGCTTGTCCGGTTTCCA	19	-	55553808-55553849:55554080-55554087	19q13.33c	"Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA."		The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 9877162] [evidence TAS]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which a water molecule bound by the side chains of aspartic residues at the active center acts as a nucleophile [goid 4190] [pmid 9877162] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	Kdap; NAP1; SNAPA; NAPA; KAP	Kdap; NAP1; SNAPA; NAPA; KAP
Select regulatory molecule -> G-protein -> Small GTPase	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_26197	ILMN_26197	ARL1	NM_001177.3	NM_001177.3		400	33946322	NM_001177.3	ARL1	NP_001168.1	ILMN_1813091	4860468	S	2750	GGTCCTTGTCTAGCAGGAGACAACTGCACAGGTATACTACCAGCGTTTGG	12	-	100311444-100311493	12q23.2a	"Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 11256614] [evidence IDA]"	Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 9624189] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Increases the activity of an enzyme [goid 8047] [pmid 9624189] [evidence TAS]"	ARFL1	ARFL1
Miscellaneous function -> Myelin protein	Neuronal activities -> Other neuronal activity;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_19818	ILMN_19818	GPM6A	NM_201591.1	NM_201591.1		2823	42476107	NM_201591.1	GPM6A	NP_963885.1	ILMN_1711312	380376	I	1	ATCTCTCAGGCTTAGAGCTTTATACTCACTCCTTTGACAGCCACGCTTCT	4	-	176971126-176971175	4q34.2a	"Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA."	"The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 12493773] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			M6A; GPM6	GPM6; M6A
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15626	ILMN_15626	SHB	NM_003028.2	NM_003028.2		6461	106879209	NM_003028.2	SHB	NP_003019.2	ILMN_1732612	5890706	S	2033	AAGCTACCCATCAAAGGGGCTGAGCACTTGTCCCTCCTCTATCCCGTGGC	9	-	37909833-37909882	9p13.2a-p13.1b	"Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8302579] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	"Interacting selectively and simultaneously with one or more signal transduction molecules, usually acting as a scaffold to bring these molecules into close proximity either using their own SH2/SH3 domains (e.g. Grb2) or those of their target molecules (e.g. SAM68) [goid 5070] [pmid 8302579] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	RP11-3J10.8; bA3J10.2	RP11-3J10.8; bA3J10.2
Signaling molecule -> Membrane-bound signaling molecule	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Immunity and defense	Homo sapiens	RefSeq	ILMN_24367	ILMN_24367	CD82	NM_001024844.1	NM_001024844.1		3732	67782353	NM_001024844.1	CD82	NP_001020015.1	ILMN_2392274	2340768	A	1248	GGCGCAGGTGGGCTGGACTTCTACCTGCCCTCAAGGGTGTGTATATTGTA	11	+	44597523-44597572	11p11.2d	"Homo sapiens CD82 molecule (CD82), transcript variant 2, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 7754374] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1842498] [evidence TAS]		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15205336] [evidence IPI]	SAR2; TSPAN27; GR15; 4F9; C33; ST6; IA4; KAI1; R2	SAR2; TSPAN27; GR15; ST6; KAI1; 4F9; C33; IA4; R2
		Homo sapiens	RefSeq	ILMN_167815	ILMN_167815	LOC91561	NM_001080822.1	NM_001080822.1		91561	124249365	NM_001080822.1	LOC91561	NP_001074291.1	ILMN_2133360	2370341	S	470	AGTTCACTGACCACCTCGTCAAGACCCACACCAGAGTCTCCGTGCAGCGG				11p15.1d	"Homo sapiens hCG1992539 (LOC91561), mRNA."
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15014	ILMN_15014	IGSF3	NM_001542.2	NM_001542.2		3321	55953132	NM_001542.2	IGSF3	NP_001533.2	ILMN_1704353	2900674	A	6841	CAGATGGATGGTAATGGTGCCCTCCAGTGGCTGTGAGACCTCATTGCGCA	1	-	116918916-116918965	1p13.1b	"Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			EWI-3; V8; MGC117164	V8; EWI-3; MGC117164
Select regulatory molecule -> Phosphatase modulator -> Phosphatase inhibitor	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling;Apoptosis;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication	Homo sapiens	RefSeq	ILMN_21171	ILMN_21171	NAP1L4	NM_005969.3	NM_005969.3		4676	56549646	NM_005969.3	NAP1L4	NP_005960.1	ILMN_1804327	70181	S	2274	GGGCCCCACCATTCATCCTGTCTGAAGGTCCTGGGTTTGGTGTGACCGCT	11	-	2922430-2922479	11p15.4d	"Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; Any protein complex that acts in the formation of nucleosomes or higher order chromatin structure [goid 5678] [pmid 9325046] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9325046] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA [goid 6334] [pmid 9325046] [evidence TAS]; The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA [goid 6334] [evidence IEA]"	Interacting selectively with an unfolded protein [goid 51082] [pmid 9325046] [evidence TAS]	NAP2; MGC4565; NAP2L; hNAP2	MGC4565; hNAP2; NAP2; NAP2L
Transfer/carrier protein -> Other transfer/carrier protein	Transport;Blood circulation and gas exchange	Homo sapiens	RefSeq	ILMN_8058	ILMN_8058	CYGB	NM_134268.3	NM_134268.3		114757	38454323	NM_134268.3	CYGB	NP_599030.1	ILMN_1758128	7100731	S	1782	CGTCTTCAAGGATGTTTTGCTGCTGTGGCTCCTGCTGTGTCCCCTCCTGG	17	-	72035154-72035203	17q25.1d	"Homo sapiens cytoglobin (CYGB), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A prolongation or process extending from a nerve cell, e.g. an axon or dendrite [goid 43005] [evidence IEA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals [goid 6979] [pmid 11320098] [evidence ISS]; The directed movement of oxygen (O2) into, out of, within or between cells [goid 15671] [pmid 11919282] [evidence NAS]"	"Catalysis of the reaction: donor + H2O2 = oxidized donor + 2 H2O [goid 4601] [pmid 11320098] [evidence ISS]; Enables the directed movement of oxygen into, out of, within or between cells [goid 5344] [pmid 11919282] [evidence NAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with oxygen (O2) [goid 19825] [evidence IEA]; Interacting selectively with heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring [goid 20037] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	HGB; STAP	HGB; STAP
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10229	ILMN_10229	STEAP1	NM_012449.2	NM_012449.2		26872	22027487	NM_012449.2	STEAP1	NP_036581.1	ILMN_2244631	7510521	I	1224	TACTGTTTACACACATTTTTGTTCAATATTGATATATTTTATCACCAACA	7	+	89631988-89632037	7q21.13b	"Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA."	"A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10588738] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10588738] [evidence TAS]; A specialized region of connection between two cells including but not limited to gap junctions, desmosomes, and tight junctions, but excluding direct cytoplasmic junctions such as ring canals [goid 5911] [pmid 10588738] [evidence TAS]; The lipid bilayer surrounding an endosome [goid 10008] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of iron (Fe) ions into, out of, within or between cells [goid 6826] [evidence IEA]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [pmid 10588738] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Interacting selectively with copper (Cu) ions [goid 5507] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Catalysis of energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules [goid 15267] [pmid 10588738] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 50660] [evidence IEA]"	PRSS24; STEAP; MGC19484	MGC19484; PRSS24; STEAP
Select regulatory molecule -> Kinase modulator -> Kinase activator	Signal transduction -> Intracellular signaling cascade -> JNK cascade	Homo sapiens	RefSeq	ILMN_166298	ILMN_166298	MAPK8IP2	NM_012324.3	NM_012324.3		23542	117446086	NM_012324.3	MAPK8IP2	NP_036456.1	ILMN_2262930	3130026	I	107	TCCCGGAGAAGATGGCGGATCGCGCGGAGATGTTTTCTCTCTCCACCTTC	22	+	49386103-49386113:49386114-49386152	22q13.33b	"Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10490659] [evidence IDA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]"	"The aggregation, arrangement and bonding together of a set of components to form a complex capable of relaying a signal within a cell. Complex formation involves dimerization of a receptor protein tyrosine kinase followed by the association of several different intracellular signaling molecules with the cytoplasmic tails of the receptors [goid 7172] [pmid 10490659] [evidence TAS]; A cascade of protein kinase activities, culminating in the phosphorylation and activation of a member of the JUN kinase subfamily of stress-activated protein kinases, which in turn are a subfamily of mitogen-activated protein (MAP) kinases that is activated primarily by cytokines and exposure to environmental stress [goid 7254] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of anti-apoptosis [goid 45768] [pmid 10756100] [evidence NAS]; Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade [goid 46328] [pmid 10490659] [evidence IDA]"	"Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 12023290] [evidence NAS]; Functions as a physical support for the assembly of a multiprotein mitogen-activated protein kinase (MAPK) complex. MAPK scaffold proteins have binding sites for MAPK pathway kinases as well as for upstream signaling proteins [goid 5078] [pmid 10490659] [evidence NAS]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 10490659] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively and stoichiometrically with kinesin, a cytoplasmic protein responsible for moving vesicles and organelles towards the distal end of microtubules [goid 19894] [evidence IEA]; Interacting selectively and stoichiometrically with kinesin, a cytoplasmic protein responsible for moving vesicles and organelles towards the distal end of microtubules [goid 19894] [evidence ISS]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 10490659] [evidence IPI]; Increases the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 30295] [pmid 12244047] [evidence IDA]"	JIP2; PRKM8IPL; IB2	JIP2; PRKM8IPL; IB2
Select regulatory molecule -> Kinase modulator -> Kinase activator	Signal transduction -> Intracellular signaling cascade -> JNK cascade	Homo sapiens	RefSeq	ILMN_166298	ILMN_166298	MAPK8IP2	NM_012324.3	NM_012324.3		23542	117446086	NM_012324.3	MAPK8IP2	NP_036456.1	ILMN_2351262	1410315	A	2671	TTTGGCAAGGACTGGATTGGGGGGACATGGGACCTTACGCTTGTGGGGGT	22	+	49396153-49396202	22q13.33b	"Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10490659] [evidence IDA]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence IEA]"	"The aggregation, arrangement and bonding together of a set of components to form a complex capable of relaying a signal within a cell. Complex formation involves dimerization of a receptor protein tyrosine kinase followed by the association of several different intracellular signaling molecules with the cytoplasmic tails of the receptors [goid 7172] [pmid 10490659] [evidence TAS]; A cascade of protein kinase activities, culminating in the phosphorylation and activation of a member of the JUN kinase subfamily of stress-activated protein kinases, which in turn are a subfamily of mitogen-activated protein (MAP) kinases that is activated primarily by cytokines and exposure to environmental stress [goid 7254] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of anti-apoptosis [goid 45768] [pmid 10756100] [evidence NAS]; Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade [goid 46328] [pmid 10490659] [evidence IDA]"	"Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 12023290] [evidence NAS]; Functions as a physical support for the assembly of a multiprotein mitogen-activated protein kinase (MAPK) complex. MAPK scaffold proteins have binding sites for MAPK pathway kinases as well as for upstream signaling proteins [goid 5078] [pmid 10490659] [evidence NAS]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 10490659] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively and stoichiometrically with kinesin, a cytoplasmic protein responsible for moving vesicles and organelles towards the distal end of microtubules [goid 19894] [evidence IEA]; Interacting selectively and stoichiometrically with kinesin, a cytoplasmic protein responsible for moving vesicles and organelles towards the distal end of microtubules [goid 19894] [evidence ISS]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 10490659] [evidence IPI]; Increases the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 30295] [pmid 12244047] [evidence IDA]"	JIP2; PRKM8IPL; IB2	JIP2; PRKM8IPL; IB2
Synthase and synthetase -> Synthase;Oxidoreductase -> Other oxidoreductase;Hydrolase -> Other hydrolase;Ligase -> Other ligase	Amino acid metabolism -> Amino acid biosynthesis;Other metabolism	Homo sapiens	RefSeq	ILMN_10026	ILMN_10026	MTHFD1	NM_005956.2	NM_005956.2		4522	13699867	NM_005956.2	MTHFD1	NP_005947.2	ILMN_1785324	1660270	S	2759	CTTAGTAGGAACGATGAGCACAATGCCTGGACTCCCCACCCGGCCCTGTT	14	+	63991334-63991346:63994685-63994721	14q23.2b	"Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 3528153] [evidence TAS]"	"The chemical reactions and pathways resulting in the formation of histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid [goid 105] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid [goid 6548] [evidence IEA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]; The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents [goid 8652] [evidence IEA]; The chemical reactions and pathways resulting in the formation of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins [goid 9086] [evidence IEA]; The chemical reactions and pathways resulting in the formation of folic acid and its derivatives [goid 9396] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate [goid 4329] [pmid 3053686] [evidence TAS]; Catalysis of the reaction: 5,10-methenyltetrahydrofolate + H2O = 10-formyltetrahydrofolate [goid 4477] [pmid 3053686] [evidence TAS]; Catalysis of the reaction: 5,10-methylenetetrahydrofolate + NADP+ = 5,10-methenyltetrahydrofolate + NADPH + H+ [goid 4488] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: 10-formyltetrahydrofolate + NADP+ + H2O = tetrahydrofolate + CO2 + NADPH + H+ [goid 16155] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]"	MTHFC; MTHFD	MTHFC; MTHFD
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12206	ILMN_12206	TMEM14C	NM_016462.2	NM_016462.2		51522	24475984	NM_016462.2	TMEM14C	NP_057546.1	ILMN_2175131	3840167	S	811	GGTGTCAGCTTTCAGGGCTCTGAAACCCTATTCCCTGCTCTGAGGAACAG	6	+	10839176-10839225	6p24.2a	"Homo sapiens transmembrane protein 14C (TMEM14C), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			HSPC194; MSTP073; bA421M1.6; NET26; C6orf53	NET26; HSPC194; MSTP073; bA421M1.6; C6orf53
Kinase -> Other kinase	Coenzyme and prosthetic group metabolism -> Coenzyme metabolism	Homo sapiens	RefSeq	ILMN_4891	ILMN_15683	ITGB1BP3	NM_170678.2	NM_170678.2		27231	151101232	NM_170678.2	ITGB1BP3	NP_733778.1	ILMN_1776850	2810192	A	764	GGAGATGGAGGCCAACGGTGTGGAAGTGGTCTACCTGGACGGCATGAAGT	19	+	3892147-3892175:3893081-3893101	19p13.3e	"Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base [goid 19363] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 45662] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12809483] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + N-ribosylnicotinamide = ADP + nicotinamide ribonucleotide [goid 50262] [evidence IEA]"	MGC126624; MIBP; NRK2	MGC126624; MIBP; NRK2
Kinase -> Other kinase	Coenzyme and prosthetic group metabolism -> Coenzyme metabolism	Homo sapiens	RefSeq	ILMN_15683	ILMN_15683	ITGB1BP3	NM_170678.2	NM_170678.2		27231	151101232	NM_170678.2	ITGB1BP3	NP_733778.1	ILMN_1656812	6250541	I	681	AGAAGTACCCGCAACTACACAGTCCCTGATCCCCCCGGCCTCTTCGATGG	19	+	3890965-3890969:3892069-3892113	19p13.3e	"Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base [goid 19363] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 45662] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12809483] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + N-ribosylnicotinamide = ADP + nicotinamide ribonucleotide [goid 50262] [evidence IEA]"	MGC126624; MIBP; NRK2	MGC126624; MIBP; NRK2
Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_10709	ILMN_10709	MYO1C	NM_033375.4	NM_033375.4		4641	124494239	NM_033375.4	MYO1C	NP_203693.3	ILMN_1812616	3710605	S	3620	CTGGGCTCTGGTGCCCTCTTCCCTGGCCAGGACACCTCTCCTCCTGATTC	17	-	1315296-1315345	17p13.3e	"Homo sapiens myosin IC (MYO1C), transcript variant 3, mRNA."	"Bundle of microfilaments and other proteins found in fibroblasts [goid 1725] [pmid 9858156] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9858156] [evidence IDA]; Dense covering of microvilli on the apical surface of epithelial cells in the intestine and kidney; the microvilli aid absorption by increasing the surface area of the cell [goid 5903] [evidence IEA]; The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis [goid 9925] [pmid 9858156] [evidence IDA]; The membranes on the sides of epithelial cells which lie at the interface of adjacent cells [goid 16328] [pmid 9858156] [evidence IDA]; A two-stranded helical polymer of the protein actin [goid 31941] [pmid 9858156] [evidence IDA]; An actin-based protrusion from the apical surface of auditory and vestibular hair cells. Bundles of stereocilia act as mechanosensory organelles [goid 32420] [evidence IEA]; A myosin complex containing a class I myosin heavy chain and associated light chains; myosin I heavy chains are single-headed, possess tails of various lengths, and do not self-associate into bipolar filaments; myosin I complexes are involved in diverse processes related to membrane traffic and cell movement [goid 45160] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	NMI; MMI-beta; myr2; FLJ23903; MMIb	NMI; MMI-beta; myr2; FLJ23903; MMIb
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27770	ILMN_27770	CCDC74B	NM_207310.1	NM_207310.1		91409	46409265	NM_207310.1	CCDC74B	NP_997193.1	ILMN_1747655	1050632	S	144	TCTGTGGGCGTCCAGTCCTTGAGGCCGCAGAGCCCGCAGCTCAGGCAGAG	2	-	130618908-130618957	2q21.1b	"Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA."				DKFZp434E2321	DKFZp434E2321
Extracellular matrix -> Extracellular matrix linker protein	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Signal transduction -> Cell communication -> Extracellular matrix protein-mediated signaling	Homo sapiens	RefSeq	ILMN_3642	ILMN_174441	LAMC3	NM_006059.3	NM_006059.3		10319	110611155	NM_006059.3	LAMC3	NP_006050.3	ILMN_1688642	6280541	S	5040	AGTGCACACTCTCACCCCTGCACATGCATAAACGGGCACACCCCAGTGTC	9	+	132957209-132957258	9q34.13a	"Homo sapiens laminin, gamma 3 (LAMC3), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [pmid 10225960] [evidence TAS]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 10225960] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	DKFZp434E202	DKFZp434E202
Transcription factor -> Zinc finger transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_8719	ILMN_173103	KLF17	NM_173484.3	NM_173484.3		128209	104294873	NM_173484.3	KLF17	NP_775755.3	ILMN_1744220	2230632	S	2173	CAGGCTCCTGCTCTTGTGGAGGTCACAATCTAGCGGAGAAAGGATGTTAC	1	+	44372441-44372490	1p34.1e	"Homo sapiens Kruppel-like factor 17 (KLF17), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The generation and maintenance of gametes. A gamete is a haploid reproductive cell [goid 7276] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	ZNF393; Zfp393; RP4-675G8.1; FLJ40160	Zfp393; ZNF393; RP4-675G8.1; FLJ40160
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11916	ILMN_11916	C19ORF62	NM_014173.2	NM_014173.2		29086	75709191	NM_014173.2	C19orf62	NP_054892.2	ILMN_2396813	2760259	A	694	GAAAACTGAGCTTCCGGTCACAGAGAACGTGCAGACGATTCCCCCGCCAT	19	+	17248310-17248359	19p13.11e	"Homo sapiens chromosome 19 open reading frame 62 (C19orf62), transcript variant 2, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	HSPC142; FLJ20571	HSPC142; FLJ20571
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11916	ILMN_11916	C19ORF62	NM_014173.2	NM_014173.2		29086	75709191	NM_014173.2	C19orf62	NP_054892.2	ILMN_1806937	3610768	A	1148	CCTTGGCCTAAAGCCTTGGTTCTCAAACTGGGTTCCTTGGGACCTCCGGG	19	+	17250897-17250946	19p13.11e	"Homo sapiens chromosome 19 open reading frame 62 (C19orf62), transcript variant 2, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	HSPC142; FLJ20571	HSPC142; FLJ20571
Ion channel -> Other ion channel	Transport -> Ion transport -> Cation transport;Sensory perception -> Pain sensation;Sensory perception -> Other sensory perception	Homo sapiens	RefSeq	ILMN_10550	ILMN_10550	ACCN4	NM_018674.3	NM_018674.3		55515	33519441	NM_018674.3	ACCN4	NP_061144.2	ILMN_2394902	3190082	A	2523	TCTTGGCAGGGGGAGAGGATGGCCCAGCAGGCCTGGCCCAGCTCCCAGTT	2	+	220111520-220111569	2q35f	"Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10852210] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]"	Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [pmid 10852210] [evidence TAS]; Catalysis of facilitated diffusion of a sodium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5272] [evidence IEA]; Catalysis of the transfer of sodium ions (Na+) from one side of a membrane to the other [goid 15081] [pmid 10852210] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]	MGC24860; ASIC4; MGC17248; BNAC4	ASIC4; MGC17248; MGC24860; BNAC4
Ion channel -> Other ion channel	Transport -> Ion transport -> Cation transport;Sensory perception -> Pain sensation;Sensory perception -> Other sensory perception	Homo sapiens	RefSeq	ILMN_10550	ILMN_10550	ACCN4	NM_018674.3	NM_018674.3		55515	33519441	NM_018674.3	ACCN4	NP_061144.2	ILMN_2394897	4760133	A	2404	GTGGGTGATTTAGGGACAGCCAGGGTCCCAGCCCCAATGTCAGCAGGATA	2	+	220111401-220111450	2q35f	"Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10852210] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]"	Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [pmid 10852210] [evidence TAS]; Catalysis of facilitated diffusion of a sodium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5272] [evidence IEA]; Catalysis of the transfer of sodium ions (Na+) from one side of a membrane to the other [goid 15081] [pmid 10852210] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]	MGC24860; ASIC4; MGC17248; BNAC4	ASIC4; MGC17248; MGC24860; BNAC4
Ion channel -> Other ion channel	Transport -> Ion transport -> Cation transport;Sensory perception -> Pain sensation;Sensory perception -> Other sensory perception	Homo sapiens	RefSeq	ILMN_10550	ILMN_10550	ACCN4	NM_018674.3	NM_018674.3		55515	33519441	NM_018674.3	ACCN4	NP_061144.2	ILMN_2287535	6130408	I	1420	AGACCATCTGCCCACCAAATATCTACATCGAGTGTGCAGACCACACACTG	2	+	220105855-220105904	2q35f	"Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10852210] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]"	Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [pmid 10852210] [evidence TAS]; Catalysis of facilitated diffusion of a sodium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5272] [evidence IEA]; Catalysis of the transfer of sodium ions (Na+) from one side of a membrane to the other [goid 15081] [pmid 10852210] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]	MGC24860; ASIC4; MGC17248; BNAC4	ASIC4; MGC17248; MGC24860; BNAC4
Receptor;Signaling molecule -> Membrane-bound signaling molecule;Transcription factor;Defense/immunity protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Immunity and defense;Developmental processes -> Ectoderm development -> Neurogenesis;Cell proliferation and differentiation;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_22289	ILMN_22289	JAG2	NM_145159.1	NM_145159.1		3714	21704278	NM_145159.1	JAG2	NP_660142.1	ILMN_2399523	6560056	A	4387	AAGTGCCGGTGAGACCCATGGCTGTGTTGGTGTGGCCCATGGCTGTTGGT	14	-	104679647-104679696	14q32.33c	"Homo sapiens jagged 2 (JAG2), transcript variant 2, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10910909] [evidence ISS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [evidence IEA]; Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [pmid 99180765] [evidence NAS]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [pmid 11549580] [evidence NAS]; Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell [goid 7219] [pmid 11056013] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 11700865] [evidence IEP]; The process by which the cellular identity of auditory hair cells is acquired and determined [goid 9912] [pmid 10080181] [evidence ISS]; The process by which the anatomical structures of embryonic epithelia are generated and organized. Morphogenesis pertains to the creation of form [goid 16331] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [pmid 11549580] [evidence IDA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [pmid 11700865] [evidence IDA]; Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix [goid 30155] [evidence IEA]; Any process that modulates the frequency, rate or extent of cell migration [goid 30334] [pmid 11549580] [evidence NAS]; Any process that modulates the frequency, rate or extent of cell proliferation [goid 42127] [pmid 10383933] [evidence IDA]; Any process that modulates the frequency, rate or extent of cell proliferation [goid 42127] [pmid 11549580] [evidence IDA]; The process whose specific outcome is the progression of a dentine-containing tooth over time, from its formation to the mature structure. A dentine-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and are composed mainly of dentine, a dense calcified substance, covered by a layer of enamel [goid 42475] [evidence IEA]; The process whereby a relatively unspecialized hemopoietic cell acquires specialized features of a gamma-delta T cell [goid 42492] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; The process of T cell selection that occurs in the thymus [goid 45061] [pmid 10383933] [evidence IDA]"	"Interacting selectively with the Notch (N) protein, a surface receptor [goid 5112] [pmid 9315665] [evidence IPI]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16713569] [evidence IPI]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 10383933] [evidence IDA]"	HJ2	HJ2
Phosphatase -> Protein phosphatase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Homeostasis -> Glucose homeostasis	Homo sapiens	RefSeq	ILMN_13971	ILMN_13971	PTPN2	NM_002828.2	NM_002828.2		5771	18104978	NM_002828.2	PTPN2	NP_002819.1	ILMN_2296037	780343	I	2208	GAAGGAAAATTCTCCTTACTGGGATAGTCAGGTAAACAGTTGGTCAAGAC	18	-	12783461-12783510	18p11.21d	"Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [pmid 2546150] [evidence TAS]; The series of molecular signals generated as a consequence of the insulin receptor binding to insulin [goid 8286] [evidence IEA]	"Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate [goid 16791] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate [goid 16791] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [pmid 2546150] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12907755] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16293614] [evidence IPI]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	PTPT; TCELLPTP; TCPTP; TC-PTP	PTPT; TCELLPTP; TCPTP; TC-PTP
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Cell cycle -> Cell cycle control	Homo sapiens	RefSeq	ILMN_7174	ILMN_7174	GMEB2	NM_012384.2	NM_012384.2		26205	13435378	NM_012384.2	GMEB2	NP_036516.1	ILMN_1683204	2100437	S	4418	TGGATTTTGCAGAGGGTGAGAACTTCTCTGTGCCTGCTCAGAGGCGCCCT	20	-	61689490-61689539	20q13.33e	"Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10523663] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 10523663] [evidence TAS]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 10523663] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	P79PIF; KIAA1269; PIF79	P79PIF; KIAA1269; PIF79
Ion channel -> Other ion channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_649	ILMN_649	TRPV4	NM_147204.1	NM_147204.1		59341	22547179	NM_147204.1	TRPV4	NP_671737.1	ILMN_2362346	5340615	A	2723	TGTCTTGCTCCTATGGAGTCACATAAGCCAACGCCAGAGCCCCTCCACCT	12	-	108705561-108705610	12q24.11b	"Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 2, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15753126] [evidence IDA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 11025659] [evidence NAS]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [pmid 18458941] [evidence IDA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [pmid 11025659] [evidence NAS]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [pmid 12724311] [evidence IDA]; Any process involved in maintaining the equilibrium of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell [goid 6884] [pmid 12724311] [evidence TAS]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 18458941] [evidence IDA]; The series of molecular signals initiated in response to osmotic change [goid 7231] [pmid 12724311] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus [goid 9612] [pmid 15753126] [evidence TAS]"	"Catalysis of facilitated diffusion of a calcium (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5262] [pmid 18458941] [evidence IDA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [pmid 12724311] [evidence IMP]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16293632] [evidence IPI]"	VROAC; TRP12; VRL2; VR-OAC; OTRPC4; VRL-2	VROAC; TRP12; VRL2; VR-OAC; OTRPC4; VRL-2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5464	ILMN_173022	ZCWPW1	NM_017984.3	NM_017984.3		55063	94721343	NM_017984.3	ZCWPW1	NP_060454.3	ILMN_1751963	2470577	S	2229	CTCTGGGGCGCAGGAGGGAGAAGTTGCTAAGTGCTGGGTCTGTTCATTGG	7	-	99836489-99836538	7q22.1c	"Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA."			Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	FLJ10057; ZCW1; DKFZp434N0510	FLJ10057; ZCW1; DKFZp434N0510
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Neuronal activities -> Other neuronal activity;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_11595	ILMN_11595	KLHL20	NM_014458.3	NM_014458.3		27252	40807499	NM_014458.3	KLHL20	NP_055273.2	ILMN_1756525	130408	S	2926	GCTCAGGCCTGGTTAAGCTGAGGCTTACCTTTAATAACAGCCTCCAAGGG	1	+	172021925-172021974	1q25.1a	"Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA."	The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 12493773] [evidence IDA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 10888605] [evidence TAS]	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [pmid 10888605] [evidence TAS]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	KLEIP; RP3-383J4.3; KHLHX; KLHLX	KHLHX; KLEIP; RP3-383J4.3; KLHLX
Molecular function unclassified	Apoptosis;Developmental processes -> Gametogenesis -> Spermatogenesis and motility	Homo sapiens	RefSeq	ILMN_22568	ILMN_22568	SPATA4	NM_144644.2	NM_144644.2		132851	31543824	NM_144644.2	SPATA4	NP_653245.2	ILMN_2195892	1500431	S	620	AGCTACCAGATGCGTTTACCCCTGGTTTCCAGGTCTACAGTTTCGAAGTC	4	-	177350899-177350948	4q34.2a	"Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 12019456] [evidence IEP]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 12019456] [evidence IEP]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	TSARG2; MGC33432; SPEF1B	MGC33432; SPEF1B; TSARG2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22315	ILMN_22315	CD177	NM_020406.2	NM_020406.2		57126	110735432	NM_020406.2	CD177	NP_065139.2	ILMN_1774071	1300465	S	1245	TGCCTCTCAGCATGAGGGAGGTGGGGCTGAGGGCCTGGAGTCTCTCACTT	19	+	48558201-48558250	19q13.31a	"Homo sapiens CD177 molecule (CD177), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"			NB1; PRV1; HNA2A	NB1; PRV1; HNA2A
Signaling molecule -> Growth factor -> Neurotrophic factor	Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Cell communication -> Ligand-mediated signaling;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_18878	ILMN_18878	NTF3	NM_002527.3	NM_002527.3		4908	45359869	NM_002527.3	NTF3	NP_002518.1	ILMN_1809364	2940441	S	801	CAGAGAACAATAAACTCGTGGGCTGGCGGTGGATACGGATAGACACGTCC	12	+	5474327-5474376	12p13.31e	"Homo sapiens neurotrophin 3 (NTF3), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A membrane-bounded vesicle found in the cytoplasm of the cell [goid 16023] [evidence IEA]	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 2236018] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 2236018] [evidence TAS]; The process of communication from a neuron to a muscle, across a synapse [goid 7274] [evidence IEA]; Process by which a cell becomes capable of differentiating autonomously into a glial cell regardless of its environment; upon determination, the cell fate cannot be reversed [goid 7403] [evidence IEA]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands [goid 7422] [evidence IEA]; The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [evidence IEA]; The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure [goid 21675] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a mechanoreceptor, a cell specialized to transduce mechanical stimuli and relay that information centrally in the nervous system [goid 42490] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis in neurons [goid 43523] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; The process whose specific outcome is the progression of the enteric nervous system over time, from its formation to the mature structure. The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation [goid 48484] [evidence IEA]; The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48666] [evidence IEA]; The process by which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons [goid 48699] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary [goid 51145] [evidence IEA]"	Interacting selectively with a neurotrophin receptor [goid 5165] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]	NT3; NGF2; HDNF; MGC129711; NGF-2	HDNF; NGF-2; NT3; NGF2; MGC129711
Transferase -> Acetyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Nucleoside, nucleotide and nucleic acid metabolism -> Chromatin packaging and remodeling	Homo sapiens	RefSeq	ILMN_24446	ILMN_24446	KAT2A	NM_021078.2	NM_021078.2		2648	153791534	NM_021078.2	KAT2A	NP_066564.2	ILMN_1782247	4830301	S	2966	GGTTGGAAGTTCAGCCCAAACTGAAGGGGGCCATGCCTTGTCCAGCACTG	17	-	37518751-37518800	17q21.2b	"Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA."				hGCN5; GCN5; KAT2A; MGC102791; PCAF-b	hGCN5; GCN5; KAT2A; MGC102791; PCAF-b
Phosphatase -> Protein phosphatase	Biological process unclassified	Homo sapiens	RefSeq	ILMN_20109	ILMN_20109	PPP2R1B	NM_002716.4	NM_002716.4		5519	124269712	NM_002716.4	PPP2R1B	NP_002707.3	ILMN_1709247	4670706	I	5430	GAATAGTCTCACTGTCCCCCGTTTGCCTCCACGAGCCTGCTGTTTCCAGG	11	-	111113940-111113989	11q23.1b	"Homo sapiens protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform (PPP2R1B), transcript variant 1, mRNA."			"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with an antigen, any substance which is capable of inducing a specific immune response and of reacting with the products of that response, the specific antibody or specifically sensitized T-lymphocytes, or both. Binding may counteract the biological activity of the antigen [goid 3823] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [evidence ISS]"	MGC26454; PR65B	MGC26454; PR65B
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16479	ILMN_16479	ZNF574	NM_022752.5	NM_022752.5		64763	154744869	NM_022752.5	ZNF574	NP_073589.4	ILMN_1790460	580044	S	2770	CATGGAGACTGCTGTGGAGGCGCTACCCCTGGTGGAAGCCATTGAGATCT	19	+	47277199-47277248	19q13.2c	"Homo sapiens zinc finger protein 574 (ZNF574), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ22059; FP972	FP972; FLJ22059
Transferase -> Acyltransferase	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Acyl-CoA metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism	Homo sapiens	RefSeq	ILMN_8847	ILMN_8847	DGAT2L4	NM_001002254.1	NM_001002254.1		158835	51317388	NM_001002254.1	DGAT2L4	NP_001002254.1	ILMN_1703832	6590747	S	1696	CTTGTGTGGCCCTATAATTCTGGCCTTTGTTTGAGAGTCAGCCAGCCTGC	X	-	69177495-69177544	Xq13.1b	"Homo sapiens diacylglycerol O-acyltransferase 2-like 4 (DGAT2L4), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 8610] [evidence IEA]; The chemical reactions and pathways resulting in the formation of wax, which includes C16 and C18 fatty acids [goid 10025] [evidence IEA]"	"Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: a long-chain-alcohol + acyl-CoA = a long-chain ester + CoA [goid 47196] [evidence IEA]"	DC4; MFAT; AWAT2	DC4; AWAT2; MFAT
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17001	ILMN_17001	C6ORF170	NM_152730.4	NM_152730.4		221322	117414147	NM_152730.4	C6orf170	NP_689943.4	ILMN_2228196	3930671	S	4226	TGAAATTAGCTGGGTGCAGTGATGCGCCTGTAGTCCCTGCTACTTGGGAG	6	-	121443182-121443231	6q22.31b-q22.31c	"Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	Any process that modulates the activity of a GTPase of the Rab family [goid 32313] [evidence IEA]	Increases the rate of GTP hydrolysis by a GTPase of the Rab family [goid 5097] [evidence IEA]	FLJ30899; C6orf171; FLJ34235; bA301B7.2; bA57L9.1; dJ310J6.1	bA301B7.2; FLJ30899; C6orf171; FLJ34235; bA57L9.1; dJ310J6.1
Phosphatase -> Protein phosphatase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade	Homo sapiens	RefSeq	ILMN_14010	ILMN_14010	PPP2R5C	NM_178588.1	NM_178588.1		5527	31083249	NM_178588.1	PPP2R5C	NP_848703.1	ILMN_2364971	780068	A	1109	GTGTCTCCAGCCCACACTTCCAGGTGGCAGAGCGAGCTCTCTATTACTGG	14	+	101437957-101437979:101442492-101442518	14q32.31b	"Homo sapiens protein phosphatase 2, regulatory subunit B', gamma isoform (PPP2R5C), transcript variant 4, mRNA."	"A heterodimer with protein serine/threonine phosphatase activity that is polycation-stimulated (PCS), being directly stimulated by protamine, polylysine, or histone H1; it constitutes a subclass of several enzymes activated by different histones and polylysine, and consists of catalytic and regulatory subunits [goid 159] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 12297508] [evidence IDA]; A heterodimer with protein serine/threonine phosphatase activity that is polycation-stimulated (PCS), being directly stimulated by protamine, polylysine, or histone H1; it constitutes a subclass of several enzymes activated by different histones and polylysine, and consists of catalytic and regulatory subunits [goid 159] [pmid 8703017] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8703017] [evidence IDA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [pmid 12297508] [evidence IDA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8703017] [evidence NAS]"	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [pmid 12297508] [evidence IDA]; Modulation of the activity of the enzyme protein phosphatase type 2A [goid 8601] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17540176] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15380617] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8617797] [evidence IPI]; Modulation of the activity of the enzyme protein phosphatase type 2A [goid 8601] [pmid 8703017] [evidence NAS]"	PR61G; MGC23064; B56G	PR61G; MGC23064; B56G
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12426	ILMN_17350	FAM119B	NM_015433.2	NM_015433.2		25895	45827720	NM_015433.2	FAM119B	NP_056248.2	ILMN_1723846	870056	A	2564	TGGATTCCACCCCTGCCTTCCTAGGTGACCTTGGACAAATTCTCGAACCC	12	+	56462454-56462503	12q14.1a	"Homo sapiens family with sequence similarity 119, member B (FAM119B), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 11256614] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			DKFZP586D0919	DKFZP586D0919
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_38163	ILMN_172065	VPS37D	NM_001077621.1	NM_001077621.1		155382	117938317	NM_001077621.1	VPS37D	NP_001071089.1	ILMN_1692865	630259	A	1518	GCTTTTTGAGGGCAGGTCCTTGTCTTTGTACGTTCTGTCCCCAGCCCCGC	7	+	72724289-72724338	7q11.23b	"Homo sapiens vacuolar protein sorting 37 homolog D (S. cerevisiae) (VPS37D), mRNA."		"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]"		WBSCR24; MGC35352	WBSCR24; MGC35352
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10593	ILMN_10593	SPHAR	NM_006542.2	NM_006542.2		10638	46094053	NM_006542.2	SPHAR	NP_006533.1	ILMN_1718832	4010368	S	774	TGCAAGCTGCTCATTTTTGAACAGCTTTTTGCATGGGATAGGAGCATGTC	1	+	227507677-227507696:227507697-227507726	1q42.13d	"Homo sapiens S-phase response (cyclin-related) (SPHAR), mRNA."		The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [pmid 7799938] [evidence TAS]		RP4-803J11.4; MGC88280	RP4-803J11.4; MGC88280
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Mesoderm development -> Muscle development;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_27410	ILMN_27410	MEF2B	NM_005919.1	NM_005919.1		4207	5174542	NM_005919.1	MEF2B	NP_005910.1	ILMN_2068202	1740711	S	1099	AGGGGGACTAAACACCTCCAGAAGCCTCTACAGTGGCCTGCAGAACCCCT	19	-	19118426-19118457:19118551-19118568	19p13.11b	"Homo sapiens myocyte enhancer factor 2B (MEF2B), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 1516833] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 1516833] [evidence TAS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 8575763] [evidence NAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	FLJ46391; RSRFR2; FLJ32599	FLJ46391; RSRFR2; FLJ32599
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_170659	ILMN_170659	KIAA1279	NM_015634.2	NM_015634.2		26128	72384372	NM_015634.2	KIAA1279	NP_056449.1	ILMN_2211583	6330161	S	2270	AGATTCCTTGTAAGAAAAAATGCTGGGTAATGTACCTGGTAACAAGCCTG	10	+	70446486-70446535	10q21.3e	"Homo sapiens KIAA1279 (KIAA1279), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 16225668] [evidence IDA]"	"Transport of substances into, out of or within a mitochondrion [goid 6839] [pmid 16225668] [evidence IMP]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16189514] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively and stoichiometrically with kinesin, a cytoplasmic protein responsible for moving vesicles and organelles towards the distal end of microtubules [goid 19894] [pmid 16225668] [evidence IPI]"	DKFZP586B0923; KBP; TTC20	DKFZP586B0923; KBP; TTC20
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11638	ILMN_164667	CHODL	NM_024944.2	NM_024944.2		140578	20127635	NM_024944.2	CHODL	NP_079220.2	ILMN_1726575	5690241	S	2135	CAAAGATGGTTGTTCGGGGTTTGGGATTGACACTGGAGGCAGATAGTTGC	21	+	18561148-18561197	21q21.1d	"Homo sapiens chondrolectin (CHODL), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [pmid 12079284] [evidence IDA]"	"The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 12079284] [evidence NAS]"	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]; Interacting selectively with hyaluronic acid, a polymer composed of repeating dimeric units of glucuronic acid and N-acetyl glucosamine [goid 5540] [pmid 12079284] [evidence IDA]"	C21orf68; FLJ12627; MT75; PRED12	FLJ12627; MT75; PRED12; C21orf68
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19702	ILMN_19702	NCR3	NM_147130.1	NM_147130.1		259197	24475831	NM_147130.1	NCR3	NP_667341.1	ILMN_2044471	3800019	S	718	CTCTCTGTGGCCGTGGGCAGCACCGTCTATTACCAGGGCAAATGTCTGAC	6	-	31664925-31664932:31665282-31665323	6p21.33a	"Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7590964] [evidence TAS]	"The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 10941844] [evidence NAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 10941844] [evidence NAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	NKp30; 1C7; CD337; LY117	NKp30; 1C7; CD337; LY117
Phosphatase -> Carbohydrate phosphatase	Carbohydrate metabolism	Homo sapiens	RefSeq	ILMN_16804	ILMN_16804	FBP1	NM_000507.2	NM_000507.2		2203	16579887	NM_000507.2	FBP1	NP_000498.2	ILMN_1728799	6020224	S	1176	CCGACGACGTGCTCGAGTTCCTGAAGGTGTATGAGAAGCACTCTGCCCAG	9	-	96405486-96405535	9q22.32a	"Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9382095] [evidence EXP]"	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey [goid 6000] [pmid 7558035] [evidence TAS]; The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol [goid 6094] [evidence IEA]"	"Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3 [goid 42578] [evidence IEA]; Catalysis of the reaction: D-fructose 2,6-bisphosphate + H2O = D-fructose 6-phosphate + phosphate [goid 4331] [pmid 8387495] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: D-fructose 1,6-bisphosphate + H2O = D-fructose 6-phosphate + phosphate [goid 42132] [evidence IEA]; Catalysis of the reaction: D-fructose 1,6-bisphosphate + H2O = D-fructose 6-phosphate + phosphate [goid 42132] [pmid 9382095] [evidence EXP]; Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3 [goid 42578] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16169070] [evidence IPI]"	FBP	FBP
Membrane traffic protein -> Vesicle coat protein	Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis	Homo sapiens	RefSeq	ILMN_8149	ILMN_8149	CLTA	NM_007096.2	NM_007096.2		1211	115527058	NM_007096.2	CLTA	NP_009027.1	ILMN_1687171	6220349	I	681	CGCTGACGTGATTGGTTATGTCACAAACATAAACCATCCTTGCTACAGCC	9	+	36199297-36199317:36200622-36200650	9p13.3a	"Homo sapiens clathrin, light chain (Lca) (CLTA), transcript variant 2, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11157096] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10567358] [evidence EXP]; A clathrin coat found on a vesicle of the trans-Golgi network [goid 30130] [evidence IEA]; The coat found on coated pits and the coated vesicles derived from coated pits; comprises clathrin and the AP-2 adaptor complex [goid 30132] [evidence IEA]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence NAS]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	LCA	LCA
Membrane traffic protein -> Vesicle coat protein	Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis	Homo sapiens	RefSeq	ILMN_8149	ILMN_8149	CLTA	NM_007096.2	NM_007096.2		1211	115527058	NM_007096.2	CLTA	NP_009027.1	ILMN_1695420	6380128	A	793	TGGGAACGGGTGGCCCGGCTGTGTGACTTTAACCCCAAGTCTAGCAAGCA	9	+	36201655-36201704	9p13.3a	"Homo sapiens clathrin, light chain (Lca) (CLTA), transcript variant 2, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11157096] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10567358] [evidence EXP]; A clathrin coat found on a vesicle of the trans-Golgi network [goid 30130] [evidence IEA]; The coat found on coated pits and the coated vesicles derived from coated pits; comprises clathrin and the AP-2 adaptor complex [goid 30132] [evidence IEA]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence NAS]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	LCA	LCA
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_30283	ILMN_30283	NKAP	NM_024528.1	NM_024528.1		79576	13375675	NM_024528.1	NKAP	NP_078804.1	ILMN_2067980	6110730	S	1005	GATCGAACAAAGGCTGAAGAACCATCAGATTTAATTGGCCCAGAGGCTCC	X	-	118949962-118950002:118950098-118950106	Xq24c	"Homo sapiens NF-kappaB activating protein (NKAP), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"			FLJ22626	FLJ22626
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3738	ILMN_3738	C20ORF117	NM_199181.2	NM_199181.2		140710	66773343	NM_199181.2	C20orf117	NP_954650.2	ILMN_1693004	290132	I	3473	CAAGGGCATCCTTGGGCCAACTGTCCACCTCTCTTGTCCACTATTCTCTC	20	-	34839446-34839495	20q11.23a	"Homo sapiens chromosome 20 open reading frame 117 (C20orf117), transcript variant 2, mRNA."				dJ132F21.1; KIAA0889; FLJ44670	dJ132F21.1; KIAA0889; FLJ44670
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3738	ILMN_3738	C20ORF117	NM_199181.2	NM_199181.2		140710	66773343	NM_199181.2	C20orf117	NP_954650.2	ILMN_1687073	6480332	A	3028	CGCAGTGAGAAGATCCACGACAAGGAGGCTGTTTCCGAAGTTGAGCTTGG	20	-	34858716-34858765	20q11.23a	"Homo sapiens chromosome 20 open reading frame 117 (C20orf117), transcript variant 2, mRNA."				dJ132F21.1; KIAA0889; FLJ44670	dJ132F21.1; KIAA0889; FLJ44670
Nucleic acid binding -> Other RNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> RNA localization;Protein metabolism and modification -> Translational regulation;Developmental processes	Homo sapiens	RefSeq	ILMN_137591	ILMN_23432	STAU1	NM_017453.2	NM_017453.2		6780	82659086	NM_017453.2	STAU1	NP_059347.2	ILMN_1730363	3450102	I	537	GCCCTCTGAAAATGCAGGTAGACCCATTCAAAACTCTGCTTTACCCTCTG	20	-	47215970-47216019	20q13.13c	"Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae [goid 5791] [pmid 10022909] [evidence TAS]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 10022909] [evidence TAS]; A macromolecular complex containing both protein and RNA molecules [goid 30529] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"Any process by which mRNA is transported to, or maintained in, a specific location within the cell [goid 8298] [evidence IEA]"	Interacting selectively with double-stranded RNA [goid 3725] [pmid 10022909] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15680326] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15303970] [evidence IPI]; Interacting selectively with double-stranded RNA [goid 3725] [evidence IEA]; Interacting selectively with double-stranded RNA [goid 3725] [evidence IEA]; Interacting selectively with double-stranded RNA [goid 3725] [evidence IEA]; Interacting selectively with double-stranded RNA [goid 3725] [evidence IEA]	FLJ25010; STAU	FLJ25010; STAU
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member;Cell adhesion molecule -> Other cell adhesion molecule	Cell adhesion;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_7862	ILMN_7862	PECAM1	NM_000442.3	NM_000442.3		5175	110347450	NM_000442.3	PECAM1	NP_000433.3	ILMN_1689518	430747	S	2532	CCCTGCTCCCACAGAACACAGCAATTCCTCAGGCTAAGCTGCCGGTTCTT	17	-	59754751-59754800	17q23.3b	"Homo sapiens platelet/endothelial cell adhesion molecule (PECAM1), mRNA."	"That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9290466] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10858437] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10350061] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9774457] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 1690453] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8080982] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9054388] [evidence EXP]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding the platelet alpha granule [goid 31092] [pmid 8080982] [evidence EXP]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7994021] [evidence TAS]; The process by which a cell in a multicellular organism interprets its surroundings [goid 8037] [pmid 1690453] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10801826] [evidence IPI]	CD31; PECAM-1	CD31; PECAM-1
Nucleic acid binding -> Nuclease -> Endoribonuclease;Hydrolase	Nucleoside, nucleotide and nucleic acid metabolism -> RNA catabolism	Homo sapiens	RefSeq	ILMN_412	ILMN_412	RNASET2	NM_003730.3	NM_003730.3		8635	38683865	NM_003730.3	RNASET2	NP_003721.2	ILMN_1671565	2850100	S	1134	GATGGCCCAGTCTTCTATCCCCCACCTAAAAAGACCAAGCATTGATGCCC	6	-	167263060-167263065:167263066-167263109	6q27c	"Homo sapiens ribonuclease T2 (RNASET2), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 9192857] [evidence TAS]	"The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage [goid 6401] [pmid 9192857] [evidence TAS]"	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks [goid 4521] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	RP11-514O12.3; RNASE6PL; bA514O12.3	RP11-514O12.3; RNASE6PL; bA514O12.3
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Neuronal activities	Homo sapiens	RefSeq	ILMN_11549	ILMN_183041	GRM8	NM_000845.1	NM_000845.1		2918	4504148	NM_000845.1	GRM8	NP_000836.1	ILMN_1729212	6040431	S	3171	ATGAGTCTGTTTCTTGTAATGGCTGACCAGATTGAAGCCCTGGGTTGTGC	7	-	125865969-125866018	7q31.33c	"Homo sapiens glutamate receptor, metabotropic 8 (GRM8), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9473604] [evidence TAS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of adenylate cyclase activity [goid 7194] [pmid 9473604] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 9473604] [evidence TAS]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) [goid 30818] [pmid 11166323] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	A G-protein coupled receptor that is activated by L-AP-4 and inhibits adenylate cyclase activity [goid 1642] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A G-protein coupled receptor that is activated by L-AP-4 and inhibits adenylate cyclase activity [goid 1642] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	GLUR8; mGlu8; MGLUR8; MGC126724; FLJ41058; GPRC1H	FLJ41058; GLUR8; mGlu8; MGLUR8; MGC126724; GPRC1H
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15790	ILMN_15790	C9ORF11	NM_020641.1	NM_020641.1		54586	65287602	NM_020641.1	C9orf11	NP_065692.1	ILMN_1751069	5720139	S	555	CCCAATTCCAGAGTCTGATGTGAATGCTACACAGGGAGAAAATCAGCCAG	9	-	27276321-27276360:27279670-27279679	9p21.2a	"Homo sapiens chromosome 9 open reading frame 11 (C9orf11), mRNA."				Afaf	Afaf
Oxidoreductase -> Dehydrogenase	Carbohydrate metabolism	Homo sapiens	RefSeq	ILMN_9293	ILMN_9293	PDHA1	NM_000284.1	NM_000284.1		5160	4505684	NM_000284.1	PDHA1	NP_000275.1	ILMN_1772369	6450372	S	1300	TACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAG	X	+	19287714-19287763	Xp22.12b	"Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 3034892] [evidence TAS]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]; Catalysis of the reaction: pyruvate + lipoamide = S-acetyldihydrolipoamide + CO2 [goid 4739] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the oxidative decarboxylation of pyruvate [goid 4738] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a disulfide [goid 16624] [evidence IEA]"	PDHCE1A; PDHA; PHE1A	PDHCE1A; PDHA; PHE1A
Transferase -> Other transferase	Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism;Sulfur metabolism	Homo sapiens	RefSeq	ILMN_28965	ILMN_29763	SULT1A1	NM_177536.1	NM_177536.1		6817	29540542	NM_177536.1	SULT1A1	NP_803880.1	ILMN_1778756	7510711	A	1034	GCGAATCAAACCTGACCAAGCGGCTCAAGAATAAAATATGAATTGAGGGC	16	-	28524561-28524610	16p11.2e	"Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine [goid 6584] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom [goid 9308] [pmid 8661000] [evidence TAS]"	"Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + a phenol = adenosine 3',5'-bisphosphate + an aryl sulfate [goid 4062] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	HAST1/HAST2; MGC5163; P-PST; MGC131921; ST1A3; TSPST1; STP1; STP; PST	HAST1/HAST2; MGC5163; P-PST; MGC131921; ST1A3; TSPST1; STP1; STP; PST
Transferase -> Other transferase	Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism;Sulfur metabolism	Homo sapiens	RefSeq	ILMN_29763	ILMN_29763	SULT1A1	NM_177536.1	NM_177536.1		6817	29540542	NM_177536.1	SULT1A1	NP_803880.1	ILMN_1657302	990669	I	394	GGTCTCGGCCTTCTACGCCGGTATGAGCATTCTCCAGGGAAAGGATGACA	16	-	28538927-28538955:28541953-28541973	16p11.2e	"Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 5, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine [goid 6584] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom [goid 9308] [pmid 8661000] [evidence TAS]"	"Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + a phenol = adenosine 3',5'-bisphosphate + an aryl sulfate [goid 4062] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	HAST1/HAST2; MGC5163; P-PST; MGC131921; ST1A3; TSPST1; STP1; STP; PST	HAST1/HAST2; MGC5163; P-PST; MGC131921; ST1A3; TSPST1; STP1; STP; PST
Protease -> Cysteine protease	Protein metabolism and modification -> Proteolysis;Apoptosis	Homo sapiens	RefSeq	ILMN_29066	ILMN_29066	CASP3	NM_032991.2	NM_032991.2		836	73622122	NM_032991.2	CASP3	NP_116786.1	ILMN_2388155	2260215	A	2261	GTGCGGAGCCGTCACTGCACCAAGTCTCACTGGCTGTCAGTATGACATTT	4	-	185786039-185786088	4q35.1e	"Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant beta, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9108473] [evidence EXP]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9624143] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 16983089] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8976194] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11313965] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10823823] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10490026] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 17823127] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10748026] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11106668] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11500511] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11689006] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16286477] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11076937] [evidence EXP]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The process of regulating the proliferation and elimination of B cells such that the total number of B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus [goid 1782] [evidence IEA]; The process by which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation [goid 1836] [evidence IEA]; The cleavage of DNA during apoptosis, which usually occurs in two stages: cleavage into fragments of about 50 kbp followed by cleavage between nucleosomes to yield 200 bp fragments [goid 6309] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 12888622] [evidence IDA]; A process that directly activates any of the steps required for cell death by apoptosis [goid 6917] [pmid 7983002] [evidence TAS]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA];  [goid 8625] [evidence IEA]; The activation, by oxidative stress, of any of the steps required for cell death by apoptosis [goid 8631] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers [goid 9411] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism [goid 9611] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a keratinocyte [goid 30216] [evidence IEA]; The breakdown of the nucleus into small membrane-bounded compartments, or blebs, each of which contain compacted DNA [goid 30264] [pmid 11350920] [evidence IMP]; Any process that stops, prevents or reduces the rate or extent of B cell proliferation [goid 30889] [evidence IEA]; The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus [goid 43029] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 9353287] [evidence IGI]; The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field [goid 45165] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of CDK activity [goid 45736] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of activated T cell proliferation [goid 46007] [evidence IEA]; The process of apoptosis in neurons, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system [goid 51402] [evidence IEA]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [pmid 10942389] [evidence TAS]; Stops, prevents or reduces the activity of a cyclin-dependent protein kinase [goid 4861] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9736630] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [pmid 9353287] [evidence IDA]"	CPP32B; SCA-1; CPP32	CPP32B; SCA-1; CPP32
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22582	ILMN_166086	OR51M1	NM_001004756.1	NM_001004756.1		390059	52317270	NM_001004756.1	OR51M1	NP_001004756.1	ILMN_1766270	6650392	S	535	CCCTACTGTGGATCTGTGGTCCTCTCCCACTCATTTTGCCTGCACCAGGA	11	+	5367739-5367788	11p15.4c	"Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 11121057] [evidence NAS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [pmid 11121057] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [pmid 11121057] [evidence NAS]	OR11-40; HOR5'Beta7	OR11-40; HOR5'Beta7
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15242	ILMN_15242	LOC400499	NM_001013671.1	NM_001013671.1		400499	61966796	NM_001013671.1	LOC400499	NP_001013693.1	ILMN_2215355	1570541	S	3074	TGCATCCATACGATGGCAAAGTCATCCCCAGGAACACAGAGGGGTGCCTG	16	-	11447927-11447976	16p13.13c-p13.13b	"Homo sapiens hypothetical gene supported by AK126539 (LOC400499), mRNA."
Oxidoreductase -> Dehydrogenase	Amino acid metabolism -> Amino acid biosynthesis;Amino acid metabolism -> Amino acid catabolism	Homo sapiens	RefSeq	ILMN_28448	ILMN_28448	HIBADH	NM_152740.2	NM_152740.2		11112	41393565	NM_152740.2	HIBADH	NP_689953.1	ILMN_1804150	2480136	S	1749	TGGACTCCGTCACAATATGGTAGGATATCCCTCACCAACTCCCGACACTC	7	-	27531765-27531814	7p15.2a	"Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence NAS]"	"The process by which glucose is oxidized, coupled to NADPH synthesis. Glucose 6-P is oxidized with the formation of carbon dioxide (CO2), ribulose 5-phosphate and reduced NADP; ribulose 5-P then enters a series of reactions interconverting sugar phosphates. The pentose phosphate pathway is a major source of reducing equivalents for biosynthesis reactions and is also important for the conversion of hexoses to pentoses [goid 6098] [evidence IEA]; The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid [goid 6573] [evidence NAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Catalysis of the reaction: 6-phospho-D-gluconate + NADP+ = D-ribulose 5-phosphate + CO2 + NADPH + H+ [goid 4616] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of the reaction: 3-hydroxy-2-methylpropanoate + NAD+ = 2-methyl-3-oxopropanoate + NADH + H+ [goid 8442] [evidence NAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD, or the reduced form, NADH [goid 51287] [evidence IEA]"	MGC40361; NS5ATP1	MGC40361; NS5ATP1
Transfer/carrier protein -> Other transfer/carrier protein;Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Protein modification;Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_13593	ILMN_13593	UBE2J2	NM_194457.1	NM_194457.1		118424	37577129	NM_194457.1	UBE2J2	NP_919439.1	ILMN_1772712	1410392	A	1707	TCCCTCACATCCCGTGCCCCCTGCGCTGGCCTTCACAGTAGGTAATGGCT	1	-	1179527-1179576	1p36.33a	"Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast) (UBE2J2), transcript variant 4, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]; The covalent alteration of one or more amino acids occurring in a protein after the protein has been completely translated and released from the ribosome [goid 43687] [evidence IEA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein [goid 51246] [evidence IEA]"	"Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of ATP-dependent isopeptide bond formation between the carboxy-terminal residues of a small conjugating protein such as ubiquitin or a ubiquitin-like protein, and a substrate lysine residue. This function may be performed alone or in conjunction with an E3, ubiquitin-like protein ligase [goid 19787] [evidence IEA]; Catalysis of ATP-dependent isopeptide bond formation between the carboxy-terminal residues of a small conjugating protein such as ubiquitin or a ubiquitin-like protein, and a substrate lysine residue. This function may be performed alone or in conjunction with an E3, ubiquitin-like protein ligase [goid 19787] [evidence IEA]; Catalysis of ATP-dependent isopeptide bond formation between the carboxy-terminal residues of a small conjugating protein such as ubiquitin or a ubiquitin-like protein, and a substrate lysine residue. This function may be performed alone or in conjunction with an E3, ubiquitin-like protein ligase [goid 19787] [evidence IEA]; Catalysis of ATP-dependent isopeptide bond formation between the carboxy-terminal residues of a small conjugating protein such as ubiquitin or a ubiquitin-like protein, and a substrate lysine residue. This function may be performed alone or in conjunction with an E3, ubiquitin-like protein ligase [goid 19787] [evidence IEA]"	PRO2121; NCUBE2	NCUBE2; PRO2121
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Cell structure and motility	Homo sapiens	RefSeq	ILMN_5224	ILMN_5224	GABARAPL1	NM_031412.2	NM_031412.2		23710	56676368	NM_031412.2	GABARAPL1	NP_113600.1	ILMN_2151281	6420465	S	1534	CCCTTCAGGCTCACATGCACAGGAATGCTACATGATGGCCAGCTGCTTCC	12	+	10266658-10266707	12p13.2c	"Homo sapiens GABA(A) receptor-associated protein like 1 (GABARAPL1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 11256614] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A double-membrane-bounded vesicle in which endogenous cellular material is sequestered; known as autophagosome in yeast [goid 5776] [pmid 15292400] [evidence IDA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"		"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9892355] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with the microtubule constituent protein beta-tubulin [goid 48487] [evidence ISS]; Interacting selectively with the gamma-aminobutyric acid (GABA, 4-aminobutyrate) receptor [goid 50811] [evidence ISS]"	ATG8L; APG8L; GEC1; ATG8	ATG8L; GEC1; APG8L; ATG8
Select regulatory molecule -> Protease inhibitor -> Cysteine protease inhibitor	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_20022	ILMN_20022	CST6	NM_001323.2	NM_001323.2		1474	20302137	NM_001323.2	CST6	NP_001314.1	ILMN_1698666	1070333	I	237	GGGCAGCAACAGCATCTACTACTTCCGAGACACGCACATCATCAAGGCGC	11	+	65536274-65536323	11q13.1d	"Homo sapiens cystatin E/M (CST6), mRNA."	An insoluble protein structure formed under the plasma membrane of cornifying epithelial cells [goid 1533] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of a plant or animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species [goid 8544] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 9099741] [evidence TAS]"	 [goid 4869] [pmid 8995380] [evidence TAS]
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_13377	ILMN_13377	FLJ10357	NM_018071.3	NM_018071.3		55701	50843836	NM_018071.3	FLJ10357	NP_060541.3	ILMN_1705743	7320274	S	5337	CTCTGAAGCTCCTTCTCCCACACTGCACCTACTCCTTGAGGCTGAACTGG	14	+	20627755-20627804	14q11.2c	"Homo sapiens hypothetical protein FLJ10357 (FLJ10357), mRNA."				SOLO	SOLO
Nucleic acid binding -> Helicase -> RNA helicase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_16866	ILMN_165992	DDX46	NM_014829.2	NM_014829.2		9879	41327772	NM_014829.2	DDX46	NP_055644.2	ILMN_1727001	3890192	S	5398	TGGCAGTCCCACATCGATGATAATTGGTGCTCCCTTCATCCAACTGGATC	5	+	134194429-134194478	5q31.1e	"Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA."				MGC9936; KIAA0801; FLJ25329	MGC9936; KIAA0801; FLJ25329
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9103	ILMN_165506	CNNM1	NM_020348.1	NM_020348.1		26507	9966788	NM_020348.1	CNNM1	NP_065081.1	ILMN_1657750	520519	S	4546	GCTGGTCTTCATCACCTGAGGCCACCAGGCTCAAGCCACTGCTGTTGCAT	10	+	101143841-101143890	10q24.2b-q24.2c	"Homo sapiens cyclin M1 (CNNM1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]"		FLJ31632; ACDP1	FLJ31632; ACDP1
Receptor -> Other receptor	Transport -> Ion transport	Homo sapiens	RefSeq	ILMN_12909	ILMN_12909	TFRC	NM_003234.1	NM_003234.1		7037	4507456	NM_003234.1	TFRC	NP_003225.1	ILMN_1674243	2940435	S	4951	GCTCCTGGTCTTGAGATGTCTTCTCGTTAAGGAGTAGGGCCTTTTGGAGG	3	-	197260755-197260804	3q29f	"Homo sapiens transferrin receptor (p90, CD71) (TFRC), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1871153] [evidence IDA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 14612438] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 6090955] [evidence TAS]; A membrane-bounded vesicle found in the cytoplasm of the cell [goid 16023] [pmid 15229288] [evidence IDA]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [evidence IEA]; Cytoplasm situated near, or occurring around, the nucleus [goid 48471] [evidence IEA]"	"The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [pmid 1871153] [evidence NAS]; A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with transferrin to initiate a change in cell activity [goid 4998] [pmid 1871153] [evidence NAS]	CD71; TFR; TFR1; TRFR	TFR; TFR1; CD71; TRFR
Membrane traffic protein -> Vesicle coat protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_23227	ILMN_23227	SYPL1	NM_006754.2	NM_006754.2		6856	33239441	NM_006754.2	SYPL1	NP_006745.1	ILMN_1686380	5340224	I	72	GCGCACGCAGTATGGCGCCCAACATCTACTTGGTTCGCCAGCGGATCAGT	7	-	105540172-105540211:105540212-105540221	7q22.2c	"Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8034131] [evidence TAS]; Secretory organelles, some 50 nm in diameter, of presynaptic nerve terminals; accumulate high concentrations of neurotransmitters and secrete these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane [goid 8021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 8034131] [evidence TAS]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]"	SYPL; H-SP1	H-SP1; SYPL
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18864	ILMN_20661	C15ORF21	NM_001005267.1	NM_001005267.1		283651	52630330	NM_001005267.1	C15orf21	NP_001005267.1	ILMN_1696031	60040	A	1316	CAGTGTGTCAGGCAATCTGGACTTTGCCCTCAAAAGAGCAGTGGTTCCTG	15	+	43635854-43635903	15q21.1a	"Homo sapiens chromosome 15 open reading frame 21 (C15orf21), transcript variant 2, mRNA."				FLJ39426; D-PCa-2	FLJ39426; D-PCa-2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_20661	ILMN_20661	C15ORF21	NM_001005267.1	NM_001005267.1		283651	52630330	NM_001005267.1	C15orf21	NP_001005267.1	ILMN_2372241	270672	A	725	CAGCCGAAGCCCAGAAAGGCCTCTGCAAAGAAGAGAGAGAAGGTACCTAC	15	+	43635263-43635312	15q21.1a	"Homo sapiens chromosome 15 open reading frame 21 (C15orf21), transcript variant 2, mRNA."				FLJ39426; D-PCa-2	FLJ39426; D-PCa-2
Receptor -> G-protein coupled receptor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_137877	ILMN_12932	GPR111	NM_153839.5	NM_153839.5		222611	134288846	NM_153839.5	GPR111	NP_722581.4	ILMN_1715390	2370326	S	1878	AGCCCTCCTGGCCTTCGTGATCCCAGCTTTGGCCATCGTGGTAGTAAACC	6	+	47758060-47758109	6p12.3d	"Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a peptide neurotransmitter binding to a cell surface receptor [goid 7218] [evidence IEA]; The series of molecular signals generated as a consequence of a peptide neurotransmitter binding to a cell surface receptor [goid 7218] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]	PGR20; hGPCR35	PGR20; hGPCR35
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7212	ILMN_7212	TMEM55A	NM_018710.1	NM_018710.1		55529	24308164	NM_018710.1	TMEM55A	NP_061180.1	ILMN_1752117	5960653	S	1946	GGAATCAGCTCTCGCACTGCCCATCTTTGCAGTTTTGAAAAAGAAATTGC	8	-	92075933-92075982	8q21.3e	"Homo sapiens transmembrane protein 55A (TMEM55A), mRNA."	"The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding a late endosome [goid 31902] [evidence IEA]"		"Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	DKFZp762O076	DKFZp762O076
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27884	ILMN_174011	PRDM15	NM_001040424.1	NM_001040424.1		63977	94536867	NM_001040424.1	PRDM15	NP_001035514.1	ILMN_1682491	3450445	S	3364	TCTGCCATGTTGCACAACCGCCAAAATGACGTCCAGATCCACCCCCAGCC	21	-	42094694-42094743	21q22.3a	"Homo sapiens PR domain containing 15 (PRDM15), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence NAS]; Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins [goid 7017] [evidence IEA]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence NAS]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	C21orf83; PFM15; ZNF298	C21orf83; PFM15; ZNF298
Receptor;Ion channel -> Other ion channel	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17140	ILMN_17140	TRPM5	NM_014555.2	NM_014555.2		29850	24475627	NM_014555.2	TRPM5	NP_055370.1	ILMN_1706805	7150561	S	3753	AGAAAACGTGCCCCACCGCATCCCTACCTGGAAACTGACCAGCCTGCACT	11	-	2382447-2382496	11p15.5a	"Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10607831] [evidence TAS]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]	MTR1; LTRPC5	MTR1; LTRPC5
Transferase -> Acyltransferase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism	Homo sapiens	RefSeq	ILMN_14756	ILMN_24920	AGPAT4	NM_020133.2	NM_020133.2		56895	69128030	NM_020133.2	AGPAT4	NP_064518.1	ILMN_1730504	3440025	A	7670	ACCATGCTAGTCTTTGAGAGAACGTGTGGATTGGGTGGATGTTTGGACCG	6	-	161471206-161471255	6q26a	"Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11487472] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 8654] [pmid 15367102] [evidence NAS]"	"Catalysis of the reaction: acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate [goid 3841] [pmid 15367102] [evidence NAS]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: phospholipid + 1,2-diacylglycerol = lysophospholipid + triacylglycerol [goid 46027] [pmid 11487472] [evidence EXP]"	LPAAT-delta; 1-AGPAT4; dJ473J16.2; RP3-473J16.2	dJ473J16.2; LPAAT-delta; 1-AGPAT4; RP3-473J16.2
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Immunity and defense -> T-cell mediated immunity -> MHCI-mediated immunity	Homo sapiens	RefSeq	ILMN_137981	ILMN_31292	CD8B	NM_004931.3	NM_004931.3		926	90421320	NM_004931.3	CD8B	NP_004922.1	ILMN_1748601	70386	A	478	AGCCCACCAAGAAGTCCACCCTCAAGAAGAGAGTGTGCCGGTTACCCAGG	2	-	86933646-86933695	2p11.2e	"Homo sapiens CD8b molecule (CD8B), transcript variant 5, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [pmid 16103193] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16103193] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3145195] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 3145195] [evidence TAS]; A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains [goid 42101] [pmid 11131152] [evidence NAS]"	"Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 11131152] [evidence NAS]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 9830036] [evidence NAS]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 42110] [pmid 9830036] [evidence NAS]; Any viral process that modulates the frequency, rate, or extent of the antiviral response of the host cell or organism [goid 50690] [pmid 16103193] [evidence EXP]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 2493728] [evidence IPI]; Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity [goid 15026] [pmid 11131152] [evidence NAS]; Interacting selectively with major histocompatibility complex class I molecules; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation [goid 42288] [pmid 11131152] [evidence NAS]"	Leu2; MGC119115; LYT3; CD8B1; Ly3	MGC119115; LYT3; Ly3; Leu2; CD8B1
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Immunity and defense -> T-cell mediated immunity -> MHCI-mediated immunity	Homo sapiens	RefSeq	ILMN_31292	ILMN_31292	CD8B	NM_004931.3	NM_004931.3		926	90421320	NM_004931.3	CD8B	NP_004922.1	ILMN_2354191	4210753	A	492	TCCACCCTCAAGAAGAGAGTGTGCCGGTTACCCAGGCCAGAGACCCAGAA	2	-	86933632-86933681	2p11.2e	"Homo sapiens CD8b molecule (CD8B), transcript variant 5, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Small irregularly shaped intracellular vesicles to which endocytosed molecules are initially delivered [goid 5769] [pmid 16103193] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16103193] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3145195] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 3145195] [evidence TAS]; A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains [goid 42101] [pmid 11131152] [evidence NAS]"	"Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 11131152] [evidence NAS]; The series of molecular signals generated as a consequence of a transmembrane receptor tyrosine kinase binding to its physiological ligand [goid 7169] [pmid 9830036] [evidence NAS]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 42110] [pmid 9830036] [evidence NAS]; Any viral process that modulates the frequency, rate, or extent of the antiviral response of the host cell or organism [goid 50690] [pmid 16103193] [evidence EXP]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 2493728] [evidence IPI]; Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity [goid 15026] [pmid 11131152] [evidence NAS]; Interacting selectively with major histocompatibility complex class I molecules; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation [goid 42288] [pmid 11131152] [evidence NAS]"	Leu2; MGC119115; LYT3; CD8B1; Ly3	MGC119115; LYT3; Ly3; Leu2; CD8B1
Signaling molecule -> Other signaling molecule;Miscellaneous function -> Other miscellaneous function protein;Miscellaneous function -> Transmembrane receptor regulatory/adaptor protein	Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Immunity and defense -> T-cell mediated immunity	Homo sapiens	RefSeq	ILMN_29984	ILMN_29984	SLA2	NM_032214.2	NM_032214.2		84174	28416422	NM_032214.2	SLA2	NP_115590.1	ILMN_2409720	780129	A	2044	GCTGGGATTACAGGTGTGAGCCACGGCACCCAGCCTAGCTCTCAGATCTC	20	-	34674737-34674786	20q11.23a	"Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11696592] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 11891219] [evidence TAS]; The lipid bilayer surrounding an endosome [goid 10008] [pmid 11696592] [evidence NAS]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 11696592] [evidence IDA]; Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells [goid 19724] [pmid 11891219] [evidence TAS]; Any series of molecular signals initiated by a ligand entering the target cell, where it binds to an intracellular receptor [goid 30522] [pmid 11891219] [evidence TAS]; The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific [goid 42110] [pmid 11891219] [evidence TAS]; Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50776] [pmid 11696592] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of calcium-mediated signaling [goid 50849] [pmid 11696592] [evidence IDA]; A series of molecular signals initiated by the cross-linking of an antigen receptor on a B or T cell [goid 50851] [pmid 11696592] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of B cell activation [goid 50869] [pmid 11891219] [evidence TAS]"	"Interacting selectively and simultaneously with one or more signal transduction molecules, usually acting as a scaffold to bring these molecules into close proximity either using their own SH2/SH3 domains (e.g. Grb2) or those of their target molecules (e.g. SAM68) [goid 5070] [pmid 11891219] [evidence IDA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 11891219] [evidence IPI]"	MGC49845; SLAP2; C20orf156; FLJ21992; SLAP-2	FLJ21992; MGC49845; SLAP2; C20orf156; SLAP-2
Nucleic acid binding -> Other RNA-binding protein;Synthase and synthetase -> Synthetase -> Aminoacyl-tRNA synthetase	Protein metabolism and modification -> Amino acid activation	Homo sapiens	RefSeq	ILMN_24022	ILMN_24022	DARS	NM_001349.2	NM_001349.2		1615	45439305	NM_001349.2	DARS	NP_001340.2	ILMN_1813836	6840711	S	1640	GTTCGTCAGACCTCCATGTTCCCTCGTGATCCCAAACGACTCACTCCTTA	2	-	136381356-136381405	2q21.3b	"Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [pmid 8449960] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8449960] [evidence TAS]"	"The process of coupling aspartate to aspartyl-tRNA, catalyzed by aspartyl-tRNA synthetase. In tRNA aminoacylation, the amino acid is first activated by linkage to AMP and then transferred to either the 2'- or the 3'-hydroxyl group of the 3'-adenosine residue of the tRNA [goid 6422] [pmid 8449960] [evidence TAS]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 8449960] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid [goid 4046] [pmid 8449960] [evidence TAS]; Catalysis of the reaction: ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp) [goid 4815] [pmid 8449960] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17220478] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]"	MGC111579; DKFZp781B11202	MGC111579; DKFZp781B11202
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_30056	ILMN_30056	HIST1H2BB	NM_021062.2	NM_021062.2		3018	19924303	NM_021062.2	HIST1H2BB	NP_066406.1	ILMN_1750180	5290053	S	10	CCCTCTAAGTCTGCTCCAGCCCCTAAAAAGGGTTCTAAGAAGGCTATCAC	6	-	26151805-26151854	6p22.1d	"Homo sapiens histone cluster 1, H2bb (HIST1H2BB), mRNA."	"A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures [goid 786] [pmid 9439656] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information [goid 5694] [evidence IEA]"	"The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA [goid 6334] [pmid 9439656] [evidence NAS]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 9439656] [evidence NAS]	MGC119804; H2B/f; H2BFF; H2B.1	MGC119804; H2B/f; H2BFF; H2B.1
Nucleic acid binding -> Ribosomal protein	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_1867	ILMN_1867	RPS24	NM_033022.2	NM_033022.2		6229	71490413	NM_033022.2	RPS24	NP_148982.1	ILMN_1656625	830066	A	421	ACAGAATGAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGTGCTGGC	10	+	79467013-79467062	10q22.3c	"Homo sapiens ribosomal protein S24 (RPS24), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12588972] [evidence EXP]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]; The small subunit of the ribosome that is found in the cytosol of the cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 22627] [pmid 8706699] [evidence IDA]; The small subunit of the ribosome that is found in the cytosol of the cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 22627] [pmid 15883184] [evidence IDA]"	"Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules [goid 6364] [pmid 18230666] [evidence IMP]; The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [pmid 15189156] [evidence EXP]; Any process of regulating the production and elimination of erythrocytes within an organism [goid 34101] [pmid 17186470] [evidence IMP]; Any process of regulating the production and elimination of erythrocytes within an organism [goid 34101] [pmid 18230666] [evidence IMP]; The formation of the constituents of the small ribosomal subunit, their assembly, and their transport to the sites of protein synthesis [goid 42274] [pmid 18230666] [evidence IMP]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the ribosome [goid 3735] [pmid 18412286] [evidence NAS]; Interacting selectively with a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation [goid 31369] [evidence ISS]"	DKFZp686N1586; DBA3	DKFZp686N1586; DBA3
Phosphatase -> Nucleotide phosphatase;Lyase	Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism	Homo sapiens	RefSeq	ILMN_17684	ILMN_17684	ENTPD6	NM_001247.1	NM_001247.1		955	4557422	NM_001247.1	ENTPD6	NP_001238.1	ILMN_2091792	7200215	S	2292	CCGGGCATGAGCTGCTGTAAACTATTTGTGGCTGTGCTGCTTGAGTGACG	20	+	25154923-25154972	20p11.21a	"Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative function) (ENTPD6), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: a nucleoside diphosphate + H2O = a nucleotide + phosphate [goid 17110] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	DKFZp781K21102; dJ738P15.3; NTPDase-6; IL6ST2; DKFZp781G2277; IL-6SAG; FLJ36711; CD39L2	DKFZp781K21102; dJ738P15.3; DKFZp781G2277; FLJ36711; CD39L2; NTPDase-6; IL6ST2; IL-6SAG
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member	Biological process unclassified	Homo sapiens	RefSeq	ILMN_180539	ILMN_180539	FCAMR	NM_032029.2	NM_032029.2		83953	117320514	NM_032029.2	FCAMR	NP_114418.2	ILMN_2206009	5490719	S	931	CCCCAGAGAGAAATCCAGGACCCTGAGGGACAGAGAGATGAACTGCTCAG				1q32.1h	"Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	FKSG87; FCA/MR	FKSG87; FCA/MR
Kinase -> Protein kinase -> Non-receptor tyrosine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade;Immunity and defense;Developmental processes -> Embryogenesis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_29114	ILMN_29114	ZAP70	NM_207519.1	NM_207519.1		7535	46488943	NM_207519.1	ZAP70	NP_997402.1	ILMN_1674838	160259	I	60	CTTGCTCCCCACACCCCTGCCCCTGACCTGGGAGTGTACCGCTGTGTGTG	2	+	97717360-97717409	2q11.2b	"Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12359715] [evidence TAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 17652306] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11048639] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains [goid 42101] [pmid 8176201] [evidence IDA]"	"Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 1423621] [evidence IDA]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 1423621] [evidence NAS]; The posttranslational phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine [goid 18108] [evidence IEA]; The process by which successful recombination of a T cell receptor beta chain into a translatable protein coding sequence leads to rescue from apoptosis and subsequent proliferation of an immature T cell [goid 43366] [evidence IEA]; The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death [goid 45059] [evidence IEA]; The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death [goid 45059] [pmid 7630421] [evidence IDA]; The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death [goid 45059] [evidence IEA]; The process of elimination of immature T cells in the thymus which react strongly with self-antigens [goid 45060] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of alpha-beta T cell differentiation [goid 46638] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of alpha-beta T cell proliferation [goid 46641] [evidence IEA]; The phosphorylation by a protein of one or more of its own amino acid residues, or residues on an identical protein [goid 46777] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling [goid 50850] [evidence IEA]; A series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell [goid 50852] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with a phosphorylated tyrosine residue within a protein [goid 1784] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate [goid 4715] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12359715] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11891219] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7528772] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12646565] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 1423621] [evidence NAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	FLJ17670; ZAP-70; TZK; STD; FLJ17679; SRK	ZAP-70; TZK; FLJ17670; STD; FLJ17679; SRK
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5188	ILMN_5188	CD68	NM_001251.2	NM_001251.2		968	91199547	NM_001251.2	CD68	NP_001242.2	ILMN_2359907	4570438	A	1610	CAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCA	17	+	7425907-7425956	17p13.1d	"Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 7680921] [evidence TAS]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 7680921] [evidence TAS]"			DKFZp686M18236; SCARD1; GP110	DKFZp686M18236; SCARD1; GP110
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5188	ILMN_5188	CD68	NM_001251.2	NM_001251.2		968	91199547	NM_001251.2	CD68	NP_001242.2	ILMN_2267914	6220382	I	267	CACAAAAAATCAGCTACTTTGCTGCCATCCTTCACGGTGACACCCACGGT	17	+	7423878-7423927	17p13.1d	"Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 7680921] [evidence TAS]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 7680921] [evidence TAS]"			DKFZp686M18236; SCARD1; GP110	DKFZp686M18236; SCARD1; GP110
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15772	ILMN_15772	WDR77	NM_024102.2	NM_024102.2		79084	20127622	NM_024102.2	WDR77	NP_077007.1	ILMN_1742889	1110440	S	1668	AAAAAGTTTGGCTTGCCTGTGTAATGCCCACTCCCTTCCCCCTGGCTCCC	1	-	111784725-111784774	1p13.2d	"Homo sapiens WD repeat domain 77 (WDR77), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	The formation and assembly from one or more snRNA and multiple protein components of a ribonucleoprotein complex that in involved in formation of the spliceosome [goid 387] [pmid 15130578] [evidence EXP]		MGC2722; HKMT1069; Nbla10071; MEP50; RP11-552M11.3	MGC2722; Nbla10071; HKMT1069; MEP50; RP11-552M11.3
Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein	Developmental processes -> Segment specification;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_137588	ILMN_22561	HOXB2	NM_002145.3	NM_002145.3		3212	84570138	NM_002145.3	HOXB2	NP_002136.1	ILMN_1810274	3460097	S	1233	GGCCGTCTACTGGAAAAATCGAGCCTCTCCCACCCTCAGTCGCATAGACT	17	-	43975337-43975386	17q21.32c	"Homo sapiens homeobox B2 (HOXB2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 7876223] [evidence TAS]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 7876223] [evidence TAS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	HOX2H; K8; Hox-2.8; HOX2	HOX2H; K8; Hox-2.8; HOX2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_891	ILMN_169193	CLDND1	NM_001040181.1	NM_001040181.1		56650	93588613	NM_001040181.1	CLDND1	NP_001035271.1	ILMN_1710326	4810286	S	1837	AAGAACGTTTCACCATAATGACCCTCCAGAGCTGGGAAACCTACCACAAG	3	-	99717304-99717353	3q11.2c	"Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			GENX-3745; MGC111162; C3orf4; MGC3316; MGC9861	GENX-3745; MGC111162; C3orf4; MGC3316; MGC9861
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_169193	ILMN_169193	CLDND1	NM_001040181.1	NM_001040181.1		56650	93588613	NM_001040181.1	CLDND1	NP_001035271.1	ILMN_2352563	4640626	A	1856	GACCCTCCAGAGCTGGGAAACCTACCACAAGATCTAAAGTTCTGGCTGTC	3	-	99717285-99717334	3q11.2c	"Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			GENX-3745; MGC111162; C3orf4; MGC3316; MGC9861	GENX-3745; MGC111162; C3orf4; MGC3316; MGC9861
		Homo sapiens	RefSeq	ILMN_29186	ILMN_177516	CASP8	NM_001080125.1	NM_001080125.1		841	122056475	NM_001080125.1	CASP8	NP_001073594.1	ILMN_1673757	2650750	A	825	GGTCATCCTGGGAGAAGGAAAGTTGGACATCCTGAAAAGAGTCTGTGCCC	2	+	201845641-201845690	2q33.1f	"Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant G, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 10891503] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 18029348] [evidence IDA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8681376] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12804595] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10894160] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12887920] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9721089] [evidence EXP]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 10891503] [evidence TAS]; A heterodimer associated with 90S and 66S preribosomes in the nucleolus; involved in ribosomal large subunit biogenesis [goid 30690] [evidence IEA]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [evidence IEA]; The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system [goid 1841] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 12888622] [evidence IDA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]; Any process induced by extracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8624] [pmid 11048727] [evidence EXP]; The conversion of proteins that induce or sustain apoptosis to an active form [goid 8633] [pmid 14644197] [evidence EXP]; The process whereby a relatively unspecialized monocyte acquires the specialized features of a macrophage [goid 30225] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of an I-kappaB kinase/NF-kappaB induced cascade [goid 43123] [pmid 12761501] [evidence IEP]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 4197] [pmid 8681376] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 11717445] [evidence IPI]"	MCH5; MGC78473; MACH; ALPS2B; FLICE; CAP4	MCH5; MGC78473; MACH; ALPS2B; FLICE; CAP4
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis;Immunity and defense	Homo sapiens	RefSeq	ILMN_1289	ILMN_1289	PLAT	NM_000930.2	NM_000930.2		5327	14702165	NM_000930.2	PLAT	NP_000921.1	ILMN_1738742	3710044	A	2177	CATGCCACCCTGTTTTCAGCTAAAGCCCAACCTCCTGACCTGTCACCGTG	8	-	42152339-42152388	8p11.21a	"Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2503541] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2962641] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [evidence IEA]; The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue [goid 45177] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 3087818] [evidence TAS]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 3087818] [evidence TAS]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 3839198] [evidence TAS]; The series of molecular signals generated as a consequence of a platelet-derived growth factor receptor binding to one of its physiological ligands [goid 48008] [evidence IEA]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	DKFZp686I03148; T-PA; TPA	T-PA; DKFZp686I03148; TPA
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_26639	ILMN_26639	RNF135	NM_032322.3	NM_032322.3		84282	37655166	NM_032322.3	RNF135	NP_115698.3	ILMN_1738883	6760433	I	665	GGGGTGGATCTTTCCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGC	17	+	26339100-26339149	17q11.2c	"Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC13061; L13	MGC13061; L13
Select regulatory molecule	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_21044	ILMN_21044	KCNRG	NM_173605.1	NM_173605.1		283518	27734696	NM_173605.1	KCNRG	NP_775876.1	ILMN_2404589	380341	A	843	CCGAAAATTGGCCAACGGAACAAATGTCCTCGGCTTACTGATTGACACTT	13	+	49492375-49492424	13q14.3a	"Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 16189514] [evidence IPI]	DLTET	DLTET
Ligase -> Other ligase	Carbohydrate metabolism -> Gluconeogenesis;Carbohydrate metabolism -> Monosaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Fatty acid biosynthesis;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism	Homo sapiens	RefSeq	ILMN_137493	ILMN_176065	ACACA	NM_198839.1	NM_198839.1		31	38679976	NM_198839.1	ACACA	NP_942136.1	ILMN_1772123	2630692	A	10430	TCTGACATTCCCACAGCCCCTCAAACATGCAAGGCTACTAAGGCAGGAGG	17	-	32516223-32516272	17q12b	"Homo sapiens acetyl-Coenzyme A carboxylase alpha (ACACA), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 6633] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA [goid 3989] [evidence IEA]; Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA [goid 3989] [pmid 7905825] [evidence TAS]; Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA [goid 3989] [evidence IEA]; Catalysis of the reaction: ATP + biotin-carboxyl-carrier protein + CO2 = ADP + phosphate + carboxybiotin-carboxyl-carrier protein [goid 4075] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16326698] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions [goid 9374] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ACC1; ACAC; ACCA; ACC	ACC1; ACAC; ACCA; ACC
Ligase -> Other ligase	Carbohydrate metabolism -> Gluconeogenesis;Carbohydrate metabolism -> Monosaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism -> Fatty acid biosynthesis;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism	Homo sapiens	RefSeq	ILMN_8132	ILMN_176065	ACACA	NM_198839.1	NM_198839.1		31	38679976	NM_198839.1	ACACA	NP_942136.1	ILMN_1667641	6650328	I	1040	CTCAGAGACAACGTGAAGACGGATAAGCAGGCATCAGGAGCAGAGTGGCC	17	-	32796502-32796551	17q12b	"Homo sapiens acetyl-Coenzyme A carboxylase alpha (ACACA), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 6633] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA [goid 3989] [evidence IEA]; Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA [goid 3989] [pmid 7905825] [evidence TAS]; Catalysis of the reaction: ATP + acetyl-CoA + HCO3- = ADP + phosphate + malonyl-CoA [goid 3989] [evidence IEA]; Catalysis of the reaction: ATP + biotin-carboxyl-carrier protein + CO2 = ADP + phosphate + carboxybiotin-carboxyl-carrier protein [goid 4075] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16326698] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with biotin (cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid), the (+) enantiomer of which is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions [goid 9374] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ACC1; ACAC; ACCA; ACC	ACC1; ACAC; ACCA; ACC
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_29764	ILMN_29764	DPM3	NM_153741.1	NM_153741.1		54344	24430134	NM_153741.1	DPM3	NP_714963.1	ILMN_2402674	7320435	A	29	AGTGACCATGACGAAATTAGCGCAGTGGCTTTGGGGACTAGCGATCCTGG	1	-	153379297-153379340:153379341-153379345:153379591-153379591	1q22a	"Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 3 (DPM3), transcript variant 2, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 10835346] [evidence EXP]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 16280320] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of an endoplasmic reticulum membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30176] [pmid 10835346] [evidence IDA]; A protein complex that possesses dolichyl-phosphate beta-D-mannosyltransferase activity; contains a catalytic subunit, a regulatory subunit, and a third subunit that stabilizes the complex. In human and several other metazoa, the subunits are named DPM1, DPM2 and DPM3, respectively [goid 33185] [pmid 10835346] [evidence IDA]"	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 10835346] [evidence NAS]; The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol moiety is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate moiety, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage [goid 6506] [pmid 16280320] [evidence TAS]; The glycosylation of a peptidyl-tryptophan residue by the transfer of alpha-mannopyranose from dolichyl-activated mannose to the indole ring [goid 18406] [pmid 16280320] [evidence TAS]; The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage [goid 35269] [pmid 16280320] [evidence TAS]"	Catalysis of the reaction: GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate [goid 4582] [pmid 10835346] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10835346] [evidence IPI]	MGC34275; MGC125905; MGC125904	MGC34275; MGC125905; MGC125904
Signaling molecule -> Membrane-bound signaling molecule	Signal transduction -> Cell communication;Developmental processes -> Ectoderm development -> Neurogenesis;Developmental processes -> Mesoderm development -> Angiogenesis;Developmental processes -> Mesoderm development -> Heart development	Homo sapiens	RefSeq	ILMN_24484	ILMN_162328	SEMA3A	NM_006080.2	NM_006080.2		10371	100913215	NM_006080.2	SEMA3A	NP_006071.1	ILMN_1765641	6900114	S	2587	AACAGGAGGACCCACGAATTTGAGAGGGCACCCAGGAGTGTCTGAGCTGC	7	-	83428617-83428622:83428623-83428666	7q21.11e	"Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8269517] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	SEMAIII; SEMAD; MGC133243; SEMA1; Hsema-III; Hsema-I; SemD; sema III; coll-1; SEMAL	SEMAIII; SEMAD; MGC133243; SEMA1; Hsema-III; Hsema-I; SemD; sema III; coll-1; SEMAL
		Homo sapiens	RefSeq	ILMN_6963	ILMN_6963	SNHG10	NR_001459.2	NR_001459.2		283596	115529443	NR_001459.2	SNHG10		ILMN_2409078	830594	A	731	TTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCCCCGGCCGCCTCTGA	14	-	95070182-95070231	14q32.13b	"Homo sapiens small nucleolar RNA host gene 10 (non-protein coding) (SNHG10), non-coding RNA."				FLJ40557; C14orf62	FLJ40557; C14orf62
Select regulatory molecule -> G-protein -> Small GTPase	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_5548	ILMN_5548	ARF4	NM_001660.2	NM_001660.2		378	6995998	NM_001660.2	ARF4	NP_001651.1	ILMN_1719518	6770176	A	1260	CCCCTACATTGACTCCTGGCCTACATCAGCCAAACTTAACCTTGGTGGGG	3	-	57532423-57532472	3p14.3a	"Homo sapiens ADP-ribosylation factor 4 (ARF4), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 2107548] [evidence TAS]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	ARF2	ARF2
Select regulatory molecule -> G-protein -> Small GTPase	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_5548	ILMN_5548	ARF4	NM_001660.2	NM_001660.2		378	6995998	NM_001660.2	ARF4	NP_001651.1	ILMN_1723884	1430136	I	191	TCACAAGTGCCACTACCGCCATGGGCCTCACTATCTCCTCCCTCTTCTCC	3	-	57557878-57557907:57557908-57557927	3p14.3a	"Homo sapiens ADP-ribosylation factor 4 (ARF4), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 2107548] [evidence TAS]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	ARF2	ARF2
Transcription factor -> Basal transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_9867	ILMN_9867	TCERG1	NM_006706.3	NM_006706.3		10915	91208416	NM_006706.3	TCERG1	NP_006697.2	ILMN_1706839	6450538	S	3677	GAACTTGCCAGATGCAAATACCACAGACTCCAAGAAAACCCGAGTTGGGG	5	+	145870738-145870787	5q32d	"Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9315662] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9315662] [evidence TAS]"	Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 9315662] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 9315662] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15383276] [evidence IPI]	MGC133200; TAF2S; CA150	MGC133200; TAF2S; CA150
Transcription factor -> Basal transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_9867	ILMN_9867	TCERG1	NM_006706.3	NM_006706.3		10915	91208416	NM_006706.3	TCERG1	NP_006697.2	ILMN_2289301	4490600	I	1188	TGCAAATAGTCAGCTGCCCGTATGTAAAGACAGTCGCTACCACCAAGACC	5	+	145828109-145828158	5q32d	"Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9315662] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9315662] [evidence TAS]"	Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 9315662] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 9315662] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15383276] [evidence IPI]	MGC133200; TAF2S; CA150	MGC133200; TAF2S; CA150
Transcription factor -> Basal transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_9867	ILMN_9867	TCERG1	NM_006706.3	NM_006706.3		10915	91208416	NM_006706.3	TCERG1	NP_006697.2	ILMN_2398039	4060646	A	3287	CCACCCCCACCTCCCACAGCATCGGAGCCCACGAGACGATCAACAAAATA	5	+	145870348-145870397	5q32d	"Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9315662] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9315662] [evidence TAS]"	Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 9315662] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 9315662] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15383276] [evidence IPI]	MGC133200; TAF2S; CA150	MGC133200; TAF2S; CA150
Receptor -> Other receptor;Defense/immunity protein -> Other defense and immunity protein	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Immunity and defense	Homo sapiens	RefSeq	ILMN_8510	ILMN_8510	PVRL4	NM_030916.1	NM_030916.1		81607	16716338	NM_030916.1	PVRL4	NP_112178.1	ILMN_1749044	1430332	S	2409	AGAGGCTTGAACTGTTACAGAAGCCCTCTGCCCTCTGGTGGCCTCTGGGC	1	-	159308405-159308454	1q23.3a	"Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA."				PRR4; nectin-4; LNIR	PRR4; nectin-4; LNIR
Miscellaneous function -> Other miscellaneous function protein	Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Apoptosis -> Inhibition of apoptosis;Developmental processes	Homo sapiens	RefSeq	ILMN_167297	ILMN_167297	SOCS3	NM_003955.3	NM_003955.3		9021	45439351	NM_003955.3	SOCS3	NP_003946.3	ILMN_2156250	5260630	S	2236	TGCCTGGGTGGGGGAGGCTGGAGGTCATTGGAGAGGCTGGACTGCTGCCA	17	-	73864902-73864951	17q25.3b	"Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA."		"Any process that modulates the frequency, rate or extent of cell growth [goid 1558] [evidence IEA]; Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein [goid 1932] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 9266833] [evidence TAS]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]; Any process by which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of cytokines to their cognate receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes [goid 7259] [pmid 9266833] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of insulin receptor signaling [goid 46627] [evidence IEA]"	"Stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 4860] [pmid 9266833] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	SSI3; MGC71791; ATOD4; SOCS-3; Cish3; SSI-3; CIS3	MGC71791; ATOD4; Cish3; SSI-3; SSI3; SOCS-3; CIS3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_29503	ILMN_19121	SMG7	NM_173156.1	NM_173156.1		9887	42475557	NM_173156.1	SMG7	NP_775179.1	ILMN_1706553	6270706	A	5497	CCAGGTTTACCATCTCACTCCCAGTAATACCCAGCTCCTATCTAAAGCCC	1	+	181789650-181789699	1q25.3e	"Homo sapiens Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 14636577] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 14636577] [evidence IDA]"	"The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins [goid 184] [pmid 16488880] [evidence TAS]; The directed movement of mRNA from the nucleus to the cytoplasm [goid 6406] [pmid 16488880] [evidence TAS]; Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule [goid 35303] [pmid 15721257] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14636577] [evidence IPI]; Interacting selectively with the enzyme protein phosphatase 2A [goid 51721] [pmid 14636577] [evidence IDA]	EST1C; C1orf16; SGA56M; SMG-7; KIAA0250; FLJ23717	EST1C; SMG-7; FLJ23717; C1orf16; SGA56M; KIAA0250
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19121	ILMN_19121	SMG7	NM_173156.1	NM_173156.1		9887	42475557	NM_173156.1	SMG7	NP_775179.1	ILMN_1690469	5550114	I	1834	GGGACTATAGCAAAGGAATAACTGTAACTAAGAATGATGGAAAGAAGGAC	1	+	181778130-181778179	1q25.3e	"Homo sapiens Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 14636577] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 14636577] [evidence IDA]"	"The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins [goid 184] [pmid 16488880] [evidence TAS]; The directed movement of mRNA from the nucleus to the cytoplasm [goid 6406] [pmid 16488880] [evidence TAS]; Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule [goid 35303] [pmid 15721257] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14636577] [evidence IPI]; Interacting selectively with the enzyme protein phosphatase 2A [goid 51721] [pmid 14636577] [evidence IDA]	EST1C; C1orf16; SGA56M; SMG-7; KIAA0250; FLJ23717	EST1C; SMG-7; FLJ23717; C1orf16; SGA56M; KIAA0250
Oxidoreductase	Electron transport -> Oxidative phosphorylation	Homo sapiens	RefSeq	ILMN_27115	ILMN_27115	NDUFB8	NM_005004.2	NM_005004.2		4714	56676316	NM_005004.2	NDUFB8	NP_004995.1	ILMN_1661170	1570131	S	583	GATCTGAGGAGGCTTCGTGGGCTTTTGGGTCCTCTAACTAGGACTCCCTC	10	-	102273540-102273583:102273584-102273589	10q24.31a	"Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa (NDUFB8), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone [goid 5747] [pmid 9878551] [evidence NAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 11256614] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]"	"The transfer of electrons from NADH to ubiquinone that occurs during oxidative phosphorylation, mediated by the multisubunit enzyme known as complex I [goid 6120] [pmid 9878551] [evidence NAS]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; A process whereby a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient [goid 22900] [evidence IEA]"	Catalysis of the reaction: NADH + H+ + acceptor = NAD+ + reduced acceptor [goid 3954] [evidence IEA]; Catalysis of the reaction: NADH + H+ + ubiquinone = NAD+ + ubiquinol [goid 8137] [pmid 9878551] [evidence NAS]; Catalysis of the reaction: NADH + H+ + acceptor = NAD+ + reduced acceptor [goid 3954] [evidence IEA]; Catalysis of the reaction: NADH + H+ + ubiquinone = NAD+ + ubiquinol [goid 8137] [evidence IEA]; Catalysis of the reaction: NADH + H+ + acceptor = NAD+ + reduced acceptor [goid 3954] [evidence IEA]; Catalysis of the reaction: NADH + H+ + ubiquinone = NAD+ + ubiquinol [goid 8137] [evidence IEA]	CI-ASHI; ASHI	CI-ASHI; ASHI
Synthase and synthetase -> Synthetase;Ligase -> Other ligase	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism	Homo sapiens	RefSeq	ILMN_10620	ILMN_184019	ACSM3	NM_005622.3	NM_005622.3		6296	47458816	NM_005622.3	ACSM3	NP_005613.2	ILMN_1685952	3840632	A	1229	CACTGTGTGAGTGCTGGGGAACCAATTACCCCTGACGTGACTGAAAAATG	16	+	20703829-20703878	16p12.2c	"Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 6633] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [pmid 7907320] [evidence NAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of a long-chain carboxylic acid to an acceptor, coupled to the hydrolysis of ATP [goid 15645] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the reaction: ATP + an acid + CoA = AMP + diphosphate + an acyl-CoA [goid 47760] [evidence IEA]"	SA; SAH	SA; SAH
Synthase and synthetase -> Synthetase;Ligase -> Other ligase	Lipid, fatty acid and steroid metabolism -> Fatty acid metabolism;Coenzyme and prosthetic group metabolism -> Coenzyme metabolism	Homo sapiens	RefSeq	ILMN_10738	ILMN_184019	ACSM3	NM_005622.3	NM_005622.3		6296	47458816	NM_005622.3	ACSM3	NP_005613.2	ILMN_1771084	6580735	I	1673	GCCCTGAATGAACACCCTTCAGTTGCAGAGTCAGCTGTTGTCAGCAGCCC	16	+	20711090-20711139	16p12.2c	"Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 6633] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [pmid 7907320] [evidence NAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the ligation of a long-chain carboxylic acid to an acceptor, coupled to the hydrolysis of ATP [goid 15645] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the reaction: ATP + an acid + CoA = AMP + diphosphate + an acyl-CoA [goid 47760] [evidence IEA]"	SA; SAH	SA; SAH
Nucleic acid binding -> Nuclease -> Exodeoxyribonuclease;Transferase	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication	Homo sapiens	RefSeq	ILMN_13641	ILMN_13641	POLG	NM_002693.1	NM_002693.1		5428	4505936	NM_002693.1	POLG	NP_002684.1	ILMN_2101930	3870220	S	3760	ACCAGGTGCATGTTTGCCTACAAGCTGGGTCTGAATGACTTGCCCCAGTC	15	-	87661726-87661771:87662776-87662779	15q26.1a	"Homo sapiens polymerase (DNA directed), gamma (POLG), mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 8884268] [evidence TAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; A DNA polymerase complex consisting of a large subunit, responsible for the catalytic activities, and a small accessory subunit. Functions in the replication and repair of mitochondrial DNA [goid 5760] [evidence IEA]"	"The process whereby new strands of DNA are synthesized in the mitochondrion [goid 6264] [evidence IEA]; Repair of the damaged strand by the combined action of an apurinic endouclease that degrades a few bases on the damaged strand and a polymerase that synthesizes a 'patch' in the 5' to 3' direction, using the undamaged strand as a template [goid 6287] [pmid 15177179] [evidence IDA]; The inherent decline over time, from the optimal fertility and viability of early maturity, that may precede death and may be preceded by other indications, such as sterility [goid 7568] [evidence IEA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and primer [goid 3887] [pmid 15164064] [evidence IDA]; Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and primer [goid 3887] [pmid 15177179] [evidence IDA]; Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end [goid 4527] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16263719] [evidence IPI]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a nucleotidyl group to a reactant [goid 16779] [evidence IEA]"	POLG1; SCAE; SANDO; FLJ27114; POLGA; PEO	POLG1; SCAE; SANDO; FLJ27114; POLGA; PEO
Cytoskeletal protein -> Microtubule family cytoskeletal protein;Select regulatory molecule	Nucleoside, nucleotide and nucleic acid metabolism -> RNA localization;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Intracellular protein traffic -> General vesicle transport;Cell cycle;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_2834	ILMN_183290	DYNC1LI2	NM_006141.2	NM_006141.2		1783	38505264	NM_006141.2	DYNC1LI2	NP_006132.1	ILMN_1783448	5290131	S	4209	AGCCTTAGTCCAGGGGTGTGGCTCTGTCCGGGTGCAGTATGCAGTCATGT	16	-	65312377-65312426	16q22.1a	"Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA."	"Any dynein complex that catalyzes movement along a cytoplasmic microtubule; cytoplasmic dynein complexes participates in many transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes,and may include light chains and light intermediate chains [goid 5868] [pmid 7738094] [evidence TAS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]"		"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	DNCLI2; LIC2	DNCLI2; LIC2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25287	ILMN_25287	FRMD6	NM_152330.2	NM_152330.2		122786	34303929	NM_152330.2	FRMD6	NP_689543.1	ILMN_1769282	7510309	S	3800	TGTCTGTGCTGTCCCTCCTGTGCTGGGTCGCGGATGTGTAGGCAACATTG	14	+	51266219-51266268	14q22.1c	"Homo sapiens FERM domain containing 6 (FRMD6), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"		"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	MGC17921; C14orf31; Willin; c14_5320	c14_5320; MGC17921; C14orf31; Willin
		Homo sapiens	RefSeq	ILMN_168339	ILMN_168339	TMEM218	NM_001080546.1	NM_001080546.1		219854	122937383	NM_001080546.1	TMEM218	NP_001074015.1	ILMN_2395856	4050463	A	1507	GCAGAGCTCTGTGAAGGCAATGAGTGTCACTTCCCTCTGCTCTAATAAAG	11	-	124472155-124472204	11q24.2a-q24.2b	"Homo sapiens transmembrane protein 218 (TMEM218), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			DKFZp667A247	DKFZp667A247
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_29414	ILMN_29414	PRSS2	NM_002770.2	NM_002770.2		5645	21071012	NM_002770.2	PRSS2	NP_002761.1	ILMN_1750234	2690452	S	411	TGGCACCGAGTCCCTCATCTCCGGCTGGGGCAACACTCTGAGTTCTGGTG	7	+	142181273-142181322	7q34f	"Homo sapiens protease, serine, 2 (trypsin 2) (PRSS2), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12731883] [evidence IDA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 16192646] [evidence IMP]; A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as in plants) [goid 31012] [pmid 12731883] [evidence TAS]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 12731883] [evidence IDA]; The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism [goid 7586] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of cell growth [goid 30307] [pmid 12731883] [evidence TAS]; The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells [goid 30574] [pmid 12731883] [evidence IDA]; The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells [goid 30574] [pmid 16192646] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of cell adhesion [goid 45785] [pmid 12731883] [evidence TAS]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 12731883] [evidence IDA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 12709065] [evidence IDA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 12709065] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16192646] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	MGC120174; MGC111183; TRY8; TRY2; TRYP2	MGC111183; TRY8; MGC120174; TRY2; TRYP2
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3194	ILMN_168014	MIZF	NM_015517.3	NM_015517.3		25988	39725947	NM_015517.3	MIZF	NP_056332.2	ILMN_1776480	990390	I	68	GGGTCTGCCGCCCAGGATGGAGTACAATGGTGTGATCTTGGCTCTTTGCA	11	+	118499493-118499542	11q23.3e	"Homo sapiens MBD2-interacting zinc finger (MIZF), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	ZNF743; HiNF-P; DKFZP434F162	ZNF743; HiNF-P; DKFZP434F162
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9497	ILMN_9497	LUZP2	NM_001009909.2	NM_001009909.2		338645	62821789	NM_001009909.2	LUZP2	NP_001009909.2	ILMN_1727101	4120692	S	3336	ATTTATGTTCAGTCTCCCACCTCCACCCTGGGGCCCAACTTCCCTTGCAG	11	+	25058841-25058890	11p14.3b-p14.3a	"Homo sapiens leucine zipper protein 2 (LUZP2), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]			KFSP2566; PRO6246; FLJ45795	KFSP2566; PRO6246; FLJ45795
Nucleic acid binding -> DNA-directed RNA polymerase;Transferase -> Nucleotidyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> General mRNA transcription activities	Homo sapiens	RefSeq	ILMN_30156	ILMN_30156	POLR2A	NM_000937.2	NM_000937.2		5430	14589948	NM_000937.2	POLR2A	NP_000928.1	ILMN_1782385	3290338	S	6538	CCCCCTGCCTGTCCCCAAATTGAAGATCCTTCCTTGCCTGTGGCTTGATG	17	+	7358459-7358508	17p13.1d	"Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7622068] [evidence NAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9790902] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 8946909] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 1939271] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12676794] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 2449431] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9409616] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9512541] [evidence EXP]; RNA polymerase II, one of three nuclear DNA-directed RNA polymerases found in all eukaryotes, is a multisubunit complex; typically it produces mRNAs, snoRNAs, and some of the snRNAs. Two large subunits comprise the most conserved portion including the catalytic site and share similarity with other eukaryotic and bacterial multisubunit RNA polymerases. The largest subunit of RNA polymerase II contains an essential carboxyl-terminal domain (CTD) composed of a variable number of heptapeptide repeats (YSPTSPS). The remainder of the complex is composed of smaller subunits (generally ten or more), some of which are also found in RNA polymerases I and III. Although the core is competent to mediate ribonucleic acid synthesis, it requires additional factors to select the appropriate template [goid 5665] [pmid 2999107] [evidence TAS]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 16109376] [evidence IDA]"	"The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 12226669] [evidence EXP]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 7622068] [evidence NAS]; Any process involved in starting transcription from the RNA polymerase II promoter [goid 6367] [pmid 8946909] [evidence EXP]; The extension of an RNA molecule after transcription initiation at an RNA polymerase II-specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase II [goid 6368] [pmid 9405375] [evidence EXP]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 7622068] [evidence NAS]; Catalysis of the reaction: nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1). Utilizes a DNA template, i.e. the catalysis of DNA-template-directed extension of the 3'-end of an RNA strand by one nucleotide at a time. Can initiate a chain 'de novo' [goid 3899] [pmid 7622068] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10944529] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10075709] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14992727] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a nucleotidyl group to a reactant [goid 16779] [evidence IEA]"	RpIILS; POLRA; POLR2; RPB1; MGC75453; hsRPB1; RPOL2; RPBh1; RPO2; hRPB220	RpIILS; MGC75453; hsRPB1; POLRA; POLR2; RPB1; RPOL2; RPBh1; RPO2; hRPB220
Miscellaneous function -> Surfactant	Blood circulation and gas exchange -> Other blood circulation and gas exchange activity	Homo sapiens	RefSeq	ILMN_6947	ILMN_6947	SFTPB	NM_198843.1	NM_198843.1		6439	38504666	NM_198843.1	SFTPB	NP_942140.1	ILMN_1727017	4730736	I	2395	CCCACCTAGCCCAGGAGAGAGCTACGGCAGGGTGTGTGTTTTGACACTGA	2	-	85738216-85738265	2p11.2f	"Homo sapiens surfactant, pulmonary-associated protein B (SFTPB), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid) [goid 6665] [evidence IEA]; The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms [goid 7585] [pmid 10378403] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 10378403] [evidence TAS]; Any process that modulates the surface tension of a liquid. Surface tension is the property that makes a liquid behave as if it had an elastic skin on its surface at the interface with a gas or an immiscible liquid [goid 50828] [evidence IEA]"		SP-B; PSP-B; SFTB3; SFTP3	SP-B; PSP-B; SFTB3; SFTP3
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Muscle contraction;Apoptosis;Developmental processes;Cell proliferation and differentiation;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_17568	ILMN_17568	ADRA1A	NM_033304.1	NM_033304.1		148	15451760	NM_033304.1	ADRA1A	NP_150647.1	ILMN_1669227	2690500	I	1574	AGGTAGCTGGAGACCTAGGCAGTCTGCAAATGAGGAGTCAGCTGGAAGCT	8	-	26679429-26679478	8p21.2a	"Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 4, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8396931] [evidence TAS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of heart contraction as a result of the baroreceptor response to increased blood pressure [goid 1985] [evidence IEA]; A process that results in a decrease in the diameter of an artery during the norepinephrine-epinephrine response to decreased blood pressure [goid 1994] [evidence IEA]; The process by which the presence of epinephrine or norepinephrine in the bloodstream activates, maintains or increases the rate of heart contraction [goid 1996] [evidence IEA]; Any process that increases the force with which the cardiac muscles of the heart pump blood through the circulatory system as a result of the presence of epinephrine or norepinephrine in the bloodstream or released from the nerve endings [goid 1997] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [pmid 10671514] [evidence TAS]; A process whereby force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step. The chemo-mechanical energy conversion step is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length [goid 6939] [pmid 8183249] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8396931] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 10860850] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by the activation of phospholipase C and the subsequent release of inositol trisphosphate [goid 7200] [evidence IEA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 10671514] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8396931] [evidence TAS]; The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure [goid 7512] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10860850] [evidence TAS]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [evidence IEA]; The increase in size or mass of an organ. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that function together as to perform a specific function [goid 35265] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade [goid 43410] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4935] [evidence IEA];  [goid 4937] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4935] [evidence IEA];  [goid 4937] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4935] [evidence IEA];  [goid 4937] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4935] [evidence IEA];  [goid 4937] [evidence IEA];  [goid 4937] [pmid 9490024] [evidence NAS];  [goid 4937] [pmid 7737411] [evidence TAS]	ADRA1C; ADRA1L1; ALPHA1AAR	ADRA1C; ADRA1L1; ALPHA1AAR
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_13342	ILMN_13342	NUP188	NM_015354.1	NM_015354.1		23511	62955802	NM_015354.1	NUP188	NP_056169.1	ILMN_1715416	7550348	S	5439	CTAGATGAAGAGGTCAACAGCAGGCATGGGGAGCCGAGTCTTCTGTGCTC	9	+	130808945-130808994	9q34.11c	"Homo sapiens nucleoporin 188kDa (NUP188), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [pmid 12228227] [evidence EXP]; Any of the numerous similar discrete openings in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined [goid 5643] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of mRNA, messenger ribonucleic acid, into, out of, within or between cells [goid 51028] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	KIAA0169; FLJ21639	KIAA0169; FLJ21639
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8884	ILMN_8884	ZNF610	NM_173530.1	NM_173530.1		162963	27734940	NM_173530.1	ZNF610	NP_775801.1	ILMN_1746924	870220	S	1723	CATGCTGGAGAGAATTCACTGCGTACCTTACAGATGGAATGAATGTGGCA	19	+	57561791-57561832:57561833-57561840	19q13.33e	"Homo sapiens zinc finger protein 610 (ZNF610), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	DKFZp547A1010; MGC102679; FLJ36040	MGC102679; FLJ36040; DKFZp547A1010
Transferase -> Glycosyltransferase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Lipid, fatty acid and steroid metabolism -> Lipid metabolism;Protein metabolism and modification -> Protein biosynthesis;Protein metabolism and modification -> Protein modification -> Protein-lipid modification;Other metabolism	Homo sapiens	RefSeq	ILMN_7792	ILMN_7792	PIGH	NM_004569.3	NM_004569.3		5283	110224468	NM_004569.3	PIGH	NP_004560.1	ILMN_1798395	1580544	S	768	GGAACCATTATGGATGTAGTGCATCTTAGAGCCATAGAGCAGGTGACTGG	14	-	67126396-67126445	14q24.1a	"Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class H (PIGH), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 8900170] [evidence TAS]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 8900170] [evidence TAS]; The stepwise addition of the components of the GPI anchor on to phosphatidylinositol lipids in the endoplasmic reticulum membrane [goid 16254] [pmid 11102867] [evidence EXP]"	Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + phosphatidylinositol = UDP + N-acetyl-D-glucosaminylphosphatidylinositol [goid 17176] [evidence IEA]	GPI-H	GPI-H
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_26551	ILMN_26551	ZNF167	NM_025169.1	NM_025169.1		55888	47716684	NM_025169.1	ZNF167	NP_079445.1	ILMN_1794597	3830528	I	1626	GTGGCGGAGTTGTGCCACCTACATGAGCCAATGGAGAAGAAAGCTCCTGG	3	+	44599866-44599915	3p21.32b	"Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ12738; ZNF64; ZFP; ZNF448; ZKSCAN7	FLJ12738; ZNF64; ZFP; ZNF448; ZKSCAN7
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation	Homo sapiens	RefSeq	ILMN_14016	ILMN_14016	MAST1	NM_014975.1	NM_014975.1		22983	45120118	NM_014975.1	MAST1	NP_055790.1	ILMN_1733366	6420114	S	4707	CCTGACCAAAAAAGGAGTGTCCAGTCCCGCACCCCCGGGACCATAGCCAA	19	+	12846639-12846684:12846685-12846688	19p13.13c	"Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"The process of introducing a phosphate group on to a protein [goid 6468] [evidence ISS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence ISS]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [evidence ISS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence ISS]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence ISS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	SAST170; SAST; KIAA0973	SAST170; SAST; KIAA0973
Receptor -> Other receptor	Transport -> Extracellular transport and import;Immunity and defense -> Macrophage-mediated immunity;Apoptosis -> Inhibition of apoptosis	Homo sapiens	RefSeq	ILMN_24609	ILMN_24609	CD5L	NM_005894.1	NM_005894.1		922	5174410	NM_005894.1	CD5L	NP_005885.1	ILMN_1701497	4050647	S	1909	GAGGCAGAAAGAGATCAGGGAGGGCTAAAGTTGTGTCTTATGCCAAGCGG	1	-	156067523-156067572	1q23.1d	"Homo sapiens CD5 molecule-like (CD5L), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 9045627] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; A defense response that is mediated by cells [goid 6968] [pmid 9045627] [evidence TAS]"	"Combining with acetylated low-density lipoproteins, advanced glycation end products, or other polyanionic ligands to initiate a change in cell activity [goid 5044] [evidence IEA]"	PRO229; SP-ALPHA; Spalpha; API6	PRO229; SP-ALPHA; Spalpha; API6
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8584	ILMN_8584	DACT3	NM_145056.1	NM_145056.1		147906	21450823	NM_145056.1	DACT3	NP_659493.1	ILMN_1733851	1990196	S	2449	GACTCCCCAGTGCAAAGGGGGGCCAGATTCTGTGTGTTTCTCTAACCTCT	19	-	51842736-51842785	19q13.32b	"Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA."				MGC15476; RRR1	MGC15476; RRR1
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_11475	ILMN_11475	SCAND1	NM_033630.1	NM_033630.1		51282	15967155	NM_033630.1	SCAND1	NP_361012.1	ILMN_2372011	240546	A	173	AGAAACTGGAAGGAGCCGGTTCGAGCTCAGCCCCTGAGCGTAACTGTGTG	20	-	34005512-34005561	20q11.23a	"Homo sapiens SCAN domain containing 1 (SCAND1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence ISS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [evidence ISS]	RAZ1; SDP1	RAZ1; SDP1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19354	ILMN_19354	GCUD2	NM_207418.2	NM_207418.2		653573	48675831	NM_207418.2	GCUD2	NP_997301.2	ILMN_1719870	1090725	S	2157	GCATTCAGAGCTACAAAGGAATAGGAAAGTAGGGTAGTGTTGGATTCTGG	Un|NW_001841668.1	+	111130-111179		"Homo sapiens gastric cancer up-regulated-2 (GCUD2), mRNA."				GCUD2; RP11-312O7.1; MGC57827	RP11-312O7.1; MGC57827; GCUD2
Transferase -> Acyltransferase;Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin	Other metabolism	Homo sapiens	RefSeq	ILMN_137968	ILMN_45233	LPCAT4	NM_153613.2	NM_153613.2		254531	87116680	NM_153613.2	LPCAT4	NP_705841.2	ILMN_1674759	5670669	S	1524	CACTCTATGGGAAACTCTTCAGCACCTACCTGCGCCCCCCACACACCTCT	15	-	32438715-32438764	15q14a	"Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA."				FLJ10257; AYTL3; LPAAT-eta	FLJ10257; AYTL3; LPAAT-eta
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25126	ILMN_25126	FAM24B	NM_152644.2	NM_152644.2		196792	116006948	NM_152644.2	FAM24B	NP_689857.2	ILMN_2140799	6940181	S	481	GTGGTGGGCCAAGAACAGCCAGGCCAAAACCATTGCCACGGAGTCTTGTC	10	-	124598841-124598890	10q26.13b	"Homo sapiens family with sequence similarity 24, member B (FAM24B), mRNA."				MGC45962; DKFZp667I0323	MGC45962; DKFZp667I0323
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Microtubule binding motor protein	Intracellular protein traffic;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_29781	ILMN_29781	KIF14	NM_014875.1	NM_014875.1		9928	7661877	NM_014875.1	KIF14	NP_055690.1	ILMN_1808071	2810201	S	6189	GCTTGCTGGCACAGTAGTTTACCCTGTTATCTGTGTTTCATAATGGGGGC	1	-	198788286-198788335	1q32.1b	"Homo sapiens kinesin family member 14 (KIF14), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [evidence IEA]"	"Movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins [goid 7018] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of movement along a microtubule, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 3777] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	KIAA0042; MGC142302	KIAA0042; MGC142302
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16772	ILMN_16772	CCNB1IP1	NM_182852.1	NM_182852.1		57820	33519439	NM_182852.1	CCNB1IP1	NP_878272.1	ILMN_1714386	650364	I	472	CGCTCTGGCGTAGTTCCCTGAAGCACTCGCTCGCAGAGAATCCTGGAATC	14	-	19855852-19855901	14q11.2b	"Homo sapiens cyclin B1 interacting protein 1 (CCNB1IP1), transcript variant 4, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12612082] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	C14orf18; HEI10	C14orf18; HEI10
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Neuronal activities;Sensory perception -> Vision	Homo sapiens	RefSeq	ILMN_27756	ILMN_27756	TAAR2	NM_014626.3	NM_014626.3		9287	116014340	NM_014626.3	TAAR2	NP_055441.2	ILMN_2412141	1780243	A	386	ATGTTGGTCGGTCCCTGGAGCATTTGCCTTCGGGGTGGTCTTCTCAGAGG				6q23.2b	"Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 2, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	GPR58	GPR58
Nucleic acid binding -> DNA-directed RNA polymerase;Transferase	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription elongation	Homo sapiens	RefSeq	ILMN_10451	ILMN_10451	POLR3H	NM_001018051.1	NM_001018051.1		171568	65301154	NM_001018051.1	POLR3H	NP_001018061.1	ILMN_1731718	7200224	I	662	GTAACAGTGGCCCTGACGCCTCAGACAAGACTTGGGAACACTGTGGGGGC	22	-	40258557-40258606	22q13.2a	"Homo sapiens polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) (POLR3H), transcript variant 4, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12391170] [evidence IDA]; RNA polymerase III, one of three nuclear DNA-directed RNA polymerases found in all eukaryotes, is a multisubunit complex; typically it produces 5S rRNA, tRNAs and some of the small nuclear RNAs. Two large subunits comprise the most conserved portion including the catalytic site and share similarity with other eukaryotic and bacterial multisubunit RNA polymerases. The remainder of the complex is composed of smaller subunits (generally ten or more), some of which are also found in RNA polymerase I and others of which are also found in RNA polymerases I and II. Although the core is competent to mediate ribonucleic acid synthesis, it requires additional factors to select the appropriate template [goid 5666] [pmid 12391170] [evidence IDA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase III (Pol III), originating at a Pol III-specific promoter [goid 6383] [pmid 12391170] [evidence IDA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]"	"Catalysis of the reaction: nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1). Utilizes a DNA template, i.e. the catalysis of DNA-template-directed extension of the 3'-end of an RNA strand by one nucleotide at a time. Can initiate a chain 'de novo' [goid 3899] [pmid 12391170] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12391170] [evidence IDA]; Catalysis of the reaction: nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1). Utilizes a DNA template, i.e. the catalysis of DNA-template-directed extension of the 3'-end of an RNA strand by one nucleotide at a time. Can initiate a chain 'de novo' [goid 3899] [evidence IEA]"	RPC8; MGC29654; MGC111097; KIAA1665	RPC8; MGC29654; MGC111097; KIAA1665
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_28377	ILMN_28377	PRNT	NM_177549.2	NM_177549.2		149830	31343531	NM_177549.2	PRNT	NP_808217.1	ILMN_1775658	4070543	S	2027	CTGGAAACAGCCATCTGCACAGGTCAACATCTTCTTAGCTGACAGGGAGC	20	-	4660184-4660233	20p13a	"Homo sapiens prion protein (testis specific) (PRNT), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]
Hydrolase -> Glucosidase	Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification	Homo sapiens	RefSeq	ILMN_24476	ILMN_161969	GANC	NM_198141.2	NM_198141.2		2595	66346736	NM_198141.2	GANC	NP_937784.2	ILMN_1812256	6420722	S	4287	CCCACTTTCCCATGAAGCCTAACTGCGTGAACACCCCTACCCCCATACCC	15	+	40432857-40432906	15q15.1d	"Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA."		"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Catalysis of the hydrolysis of terminal, non-reducing 1,4-linked alpha-D-glucose residues with release of alpha-D-glucose [goid 4558] [pmid 12370436] [evidence NAS]"	MGC138256	MGC138256
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein biosynthesis;Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_9567	ILMN_9567	RPS6KL1	NM_031464.3	NM_031464.3		83694	93277120	NM_031464.3	RPS6KL1	NP_113652.1	ILMN_1667125	7330008	S	2747	TTCCACTAGAGTTTTGCCCTCAGCTCCTCCCTGCCAGCATCCCAGTCACC	14	-	74442319-74442368	14q24.3b	"Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA."	"An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]"	The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	FLJ35734; MGC11287	FLJ35734; MGC11287
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9545	ILMN_9545	TMEM88	NM_203411.1	NM_203411.1		92162	44662812	NM_203411.1	TMEM88	NP_981956.1	ILMN_1757129	540288	S	698	CTCAATCCTGAACATCTAGGCTGGAACCTGCACACCTCCCCCTCAGCTCC	17	+	7699966-7700015	17p13.1d	"Homo sapiens transmembrane protein 88 (TMEM88), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ20025; MGC71744	FLJ20025; MGC71744
Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin	Immunity and defense -> Stress response;Cell cycle -> Cell cycle control;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_17792	ILMN_17792	AIF1	NM_001623.3	NM_001623.3		199	14574567	NM_001623.3	AIF1	NP_001614.3	ILMN_1703538	1940047	I	43	GTCTCCCCACCTCTACCAGCATCTGCTGAGCTATGAGCCAAACCAGGGAT	6	+	31691054-31691085:31691086-31691103	6p21.33a	"Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome [goid 1891] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane [goid 5884] [evidence IEA]; Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome [goid 1891] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane [goid 5884] [evidence IEA]; Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork [goid 1726] [evidence IEA]; An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome [goid 1891] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9614071] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane [goid 5884] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]; The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness [goid 51017] [evidence IEA]; The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness [goid 51017] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [pmid 9614071] [evidence TAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 8912632] [evidence TAS]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 9614071] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 9614071] [evidence TAS]; The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness [goid 51017] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	AIF-1; IRT-1; IBA1	AIF-1; IRT-1; IBA1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16023	ILMN_16023	NUDT16	NM_152395.1	NM_152395.1		131870	24308369	NM_152395.1	NUDT16	NP_689608.1	ILMN_1781996	6620402	S	3054	CAGAGCCACTGACCCTTTATGGCACTGCTAACAGACCCCTTCCCTCAGGT	3	+	132587399-132587448	3q22.1b	"Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"		"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]"	FLJ31265	FLJ31265
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_28839	ILMN_28839	TP53INP2	NM_021202.1	NM_021202.1		58476	39930398	NM_021202.1	TP53INP2	NP_067025.1	ILMN_1686906	5360392	S	3827	TGCAGACACACCATAGCCCCCTTCTACTACTTTCCCTCTCGCCCTGCCAC	20	+	32764601-32764650	20q11.22b	"Homo sapiens tumor protein p53 inducible nuclear protein 2 (TP53INP2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"			FLJ21759; C20orf110; DKFZp434O0827; FLJ23500; dJ1181N3.1; DKFZp434B2411; PINH	DKFZp434O0827; FLJ23500; dJ1181N3.1; DKFZp434B2411; PINH; FLJ21759; C20orf110
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_26171	ILMN_26171	WDR64	NM_144625.3	NM_144625.3		128025	115495442	NM_144625.3	WDR64	NP_653226.3	ILMN_1797204	2760431	S	2168	CTGGTGTCAGGCCATCCTATTGATGGGAAAGATTGCTTAGGGAGTTCTGG	1	+	240031250-240031299	1q43e	"Homo sapiens WD repeat domain 64 (WDR64), mRNA."				FLJ32978	FLJ32978
Synthase and synthetase -> Synthase;Transferase -> Transaminase	Other metabolism -> Other carbon metabolism	Homo sapiens	RefSeq	ILMN_18761	ILMN_18761	GCAT	NM_014291.2	NM_014291.2		23464	22035688	NM_014291.2	GCAT	NP_055106.1	ILMN_1724437	7560164	S	1184	CCGGGTACAGATCTCAGCAGTGCATAGCGAGGAAGACATTGACCGCTGCG	22	+	36542575-36542624	22q13.1a	"Homo sapiens glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) (GCAT), nuclear gene encoding mitochondrial protein, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence NAS]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]"	"The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 10712613] [evidence NAS]; The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]"	"Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the reaction: acetyl-CoA + glycine = CoA + 2-amino-3-oxobutanoate [goid 8890] [pmid 10712613] [evidence NAS]; Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor) [goid 16769] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]"	MGC23053; KBL	MGC23053; KBL
Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_138818	ILMN_10671	HOXA10	NM_153715.2	NM_153715.2		3206	83977448	NM_153715.2	HOXA10	NP_714926.1	ILMN_1770247	3290427	I	528	CCGCGCGGAGAAGCCAGCTGTCCCTTGGCAGTGATTTCGGAAATGTGTCA	7	-	27185791-27185799:27185800-27185840	7p15.2a	"Homo sapiens homeobox A10 (HOXA10), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 8972230] [evidence TAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 7700356] [evidence TAS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	MGC12859; PL; HOX1H; HOX1; HOX1.8	MGC12859; PL; HOX1H; HOX1; HOX1.8
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17399	ILMN_17399	CACNG6	NM_145814.1	NM_145814.1		59285	22027553	NM_145814.1	CACNG6	NP_665813.1	ILMN_1809676	4830167	I	1083	AAAGGTGCAGAGTTCCTGCTCCGAGTTGGAGCCGTCTGCTTTGGCCTCTC	19	+	59194786-59194835	19q13.42a	"Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA."	"A protein complex that forms a transmembrane channel through which calcium ions may pass in response to changes in membrane potential [goid 5891] [pmid 11170751] [evidence NAS]; A belt-like region of very close contact between the plasma membranes of adjacent cells so that the intercellular space is completely occluded. They occur in epithelia and brain endothelia [goid 5923] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [pmid 11170751] [evidence NAS]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [pmid 11170751] [evidence NAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]
Molecular function unclassified	Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_18994	ILMN_18994	MICAL1	NM_022765.2	NM_022765.2		64780	20127615	NM_022765.2	MICAL1	NP_073602.2	ILMN_1807972	2470458	S	3423	GGTGGATTTGGTCAACCAGAGAGATGCCCTCATCCGCTTCCAGGAGGAGC	6	-	109872130-109872179	6q21f	"Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence ISS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11827972] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence ISS]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [pmid 11827972] [evidence NAS]"	"The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells [goid 6725] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [pmid 11827972] [evidence NAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 11827972] [evidence NAS]; The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells [goid 6725] [evidence IEA]"	"Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11827972] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [evidence ISS]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [pmid 11827972] [evidence IPI]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [evidence ISS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water [goid 4497] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	NICAL; DKFZp434B1517; FLJ21739; FLJ11937; MICAL-1; MICAL	NICAL; DKFZp434B1517; FLJ21739; FLJ11937; MICAL-1; MICAL
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Intracellular protein traffic -> Endocytosis -> Phagocytosis;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_19532	ILMN_19532	DOCK3	NM_004947.3	NM_004947.3		1795	54400756	NM_004947.3	DOCK3	NP_004938.1	ILMN_1712352	6980131	S	8094	CACATAAGAACAGCTACCTTCTCCACTTGGTGGCACAAGAGGTAGGGAGG	3	+	51396008-51396057	3p21.31b-p21.31a	"Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"		"Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [evidence IEA]; Interacting selectively with a GTPase, any enzyme that catalyzes the hydrolysis of GTP [goid 51020] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with a GTPase, any enzyme that catalyzes the hydrolysis of GTP [goid 51020] [evidence IEA]"	PBP; MOCA; KIAA0299	PBP; MOCA; KIAA0299
Chaperone -> Chaperonin	Protein metabolism and modification -> Protein folding;Protein metabolism and modification -> Protein complex assembly	Homo sapiens	RefSeq	ILMN_11269	ILMN_11269	CCT6B	NM_006584.2	NM_006584.2		10693	58331172	NM_006584.2	CCT6B	NP_006575.2	ILMN_1699610	1230612	S	1525	GGGCGTAGATTTGAATACAGGTGAGCCAATGGTAGCAGCAGATGCAGGAG	17	-	30280136-30280166:30282081-30282099	17q12a	"Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 8812458] [evidence TAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 8812458] [evidence TAS]; The aggregation, arrangement and bonding together of a set of components to form a protein complex, mediated by chaperone molecules that do not form part of the finished complex [goid 51131] [pmid 8812458] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Enables the directed movement of proteins into, out of, within or between cells [goid 8565] [pmid 8812458] [evidence TAS]; Interacting selectively with an unfolded protein [goid 51082] [pmid 8812458] [evidence TAS]"	CCTZ-2; TSA303; Cctz2; CCT-zeta-2; TCP-1-zeta-2	TSA303; Cctz2; TCP-1-zeta-2; CCTZ-2; CCT-zeta-2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5724	ILMN_5724	GPATCH1	NM_018025.2	NM_018025.2		55094	21361683	NM_018025.2	GPATCH1	NP_060495.2	ILMN_1655625	3400202	S	3059	GCCCCAGGAGCTGCTGAGACGGCTGAAAAGTCTTCCACTAAGAAGGCAGT	19	+	38309459-38309479:38312876-38312904	19q13.11b	"Homo sapiens G patch domain containing 1 (GPATCH1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"		Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]	GPATC1; FLJ38686; FLJ34516; ECGP; FLJ10206	GPATC1; FLJ38686; FLJ34516; ECGP; FLJ10206
Molecular function unclassified	Protein targeting and localization -> Protein targeting	Homo sapiens	RefSeq	ILMN_21261	ILMN_21261	PPFIBP1	NM_177444.1	NM_177444.1		8496	29294628	NM_177444.1	PPFIBP1	NP_803193.1	ILMN_1705384	1940450	I	855	GCAGAGGCCAGAACCAAGATGGGATTTCCCTGCTGAACTATGTGAGATGC	12	+	27692049-27692084:27692085-27692098	12p11.23a-p11.22b	"Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9624153] [evidence NAS]"	"The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9624153] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]	hSgt2p; L2; hSGT2	hSgt2p; L2; hSGT2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16110	ILMN_16110	PLEKHA1	NM_001001974.1	NM_001001974.1		59338	50234892	NM_001001974.1	PLEKHA1	NP_001001974.1	ILMN_1662839	6650324	A	3427	ATCCTTGTTCGATAGCATAGGAAAATGTTCTGGTGATTGTCAGGGTCTCC	10	+	124181533-124181582	10q26.13b	"Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 11001876] [evidence IDA]"	TAPP1	TAPP1
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22145	ILMN_22145	ARHGAP28	NM_030672.2	NM_030672.2		79822	59710110	NM_030672.2	ARHGAP28	NP_109597.2	ILMN_1797753	4670753	A	1646	CGGAAGGAGTCATACGGGTCCATGCTCCACTTCTCTCCAAGGTGTCCATG	18	+	6886511-6886560	18p11.31a	"Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]"	FLJ10312; DKFZp686A2038	FLJ10312; DKFZp686A2038
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22145	ILMN_22145	ARHGAP28	NM_030672.2	NM_030672.2		79822	59710110	NM_030672.2	ARHGAP28	NP_109597.2	ILMN_1731178	50215	I	1832	CGACAGAGACCAACAGGAGCCCCAAACATGTATTCCTCTTCACTATTGGC	18	+	6888506-6888555	18p11.31a	"Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]"	FLJ10312; DKFZp686A2038	FLJ10312; DKFZp686A2038
Defense/immunity protein -> Complement component	Immunity and defense -> Complement-mediated immunity	Homo sapiens	RefSeq	ILMN_5878	ILMN_5878	CFHR3	NM_021023.4	NM_021023.4		10878	118421081	NM_021023.4	CFHR3	NP_066303.2	ILMN_2071598	4560753	S	676	TGGTCAGCACAACCAATTTGCATTAATTCTTCAGAAAAGTGTGGGCCTCC	1	+	195024127-195024151:195025798-195025822	1q31.3c	"Homo sapiens complement factor H-related 3 (CFHR3), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 8428964] [evidence TAS]"			FHR3; HLF4; CFHL3; DOWN16; FHR-3	FHR3; DOWN16; HLF4; CFHL3; FHR-3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9924	ILMN_9924	ANKRD5	NM_022096.4	NM_022096.4		63926	38569425	NM_022096.4	ANKRD5	NP_071379.3	ILMN_1728957	290450	A	3108	TTGAGCTCAGGCAGTCCTCCCAACTTGGCCGTCGAAAGTGCTGGGATTAT	20	+	9984692-9984741	20p12.2b	"Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA."			Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	dJ839B4.6; FLJ21669	dJ839B4.6; FLJ21669
Nucleic acid binding -> Translation factor -> Translation elongation factor	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_9765	ILMN_9765	GFM1	NM_024996.5	NM_024996.5		85476	25306276	NM_024996.5	GFM1	NP_079272.4	ILMN_1657682	3440195	S	3329	GTTTCCAGAAAAAGTTGGGCTTTCCCAAGCAGTTCTATTACCCGGTTCAG	3	+	159892916-159892965	3q25.32b	"Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Functions in chain elongation during polypeptide synthesis at the ribosome [goid 3746] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Functions in chain elongation during polypeptide synthesis at the ribosome [goid 3746] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	hEFG1; FLJ12662; EFG1; EFG; EGF1; FLJ13632; GFM; FLJ20773; EFGM; COXPD1	hEFG1; FLJ12662; EFG1; EFG; EGF1; FLJ13632; GFM; FLJ20773; EFGM; COXPD1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22115	ILMN_22115	BTBD3	NM_181443.1	NM_181443.1		22903	31317208	NM_181443.1	BTBD3	NP_852108.1	ILMN_1666653	4900687	I	31	GCTGGATCTCCGAGTGCCCCGGCCGGGGCCTGAGGAGCGGGCACAGGGCA	20	+	11819507-11819556	20p12.2a	"Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 2, mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	dJ742J24.1; MGC130038; KIAA0952; MGC130039	dJ742J24.1; KIAA0952; MGC130039; MGC130038
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2806	ILMN_2806	DACT1	NM_016651.4	NM_016651.4		51339	38569506	NM_016651.4	DACT1	NP_057735.2	ILMN_1801068	3520241	S	3177	CCTTAAAAGGATTCACAAAAACTTTTGCCACACTTGGTGCCTAGGCCCTG	14	+	58184209-58184258	14q23.1b	"Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state [goid 16055] [evidence IEA]	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	THYEX3; HDPR1; DAPPER1; FRODO; DAPPER; DPR1	THYEX3; HDPR1; DAPPER1; FRODO; DAPPER; DPR1
Molecular function unclassified	Intracellular protein traffic;Transport	Homo sapiens	RefSeq	ILMN_7439	ILMN_7439	STON1	NM_006873.2	NM_006873.2		11037	26787992	NM_006873.2	STON1	NP_006864.2	ILMN_1668592	4230730	S	5527	GACCCTCTGTCAGGCATATGTCAGGCTCCACTCTTAAGGAGTCAGTGACC	2	+	48679254-48679303	2p16.3d	"Homo sapiens stonin 1 (STON1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A membrane coat adaptor complex that links clathrin to a membrane [goid 30131] [evidence IEA]"	"The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell [goid 6886] [evidence IEA]; Any process that modulates the frequency, rate or extent of endocytosis [goid 30100] [pmid 11454741] [evidence IDA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	DKFZp781K2462; stoned-b1; SBLF; STNB1	DKFZp781K2462; SBLF; STNB1; stoned-b1
Kinase -> Protein kinase;Transferase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Phosphate metabolism;Other metabolism	Homo sapiens	RefSeq	ILMN_9241	ILMN_9241	NEK10	NM_152534.2	NM_152534.2		152110	44917614	NM_152534.2	NEK10	NP_689747.2	ILMN_1737681	4230711	A	1336	GGCTGAGTTAGTGACAGGGTGGCAGTCCCATAGCCTTCCTGCTGTGATTC	3	-	27178976-27179025	3p24.1d	"Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), transcript variant 2, mRNA."		The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	FLJ32685	FLJ32685
	Developmental processes -> Mesoderm development -> Muscle development;Developmental processes -> Mesoderm development -> Heart development;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_11791	ILMN_11791	PDLIM5	NM_001011515.1	NM_001011515.1		10611	58533158	NM_001011515.1	PDLIM5	NP_001011515.1	ILMN_2412281	380523	A	389	ACTCTGCAAAGAGCATCTGCTGCACCCAAGCCTGAGCCGGTTCCTGTTCA	4	+	95664039-95664049:95713525-95713563	4q22.3a	"Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 4, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence ISS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence ISS]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 11256614] [evidence IDA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11256614] [evidence IDA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 11256614] [evidence IDA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [evidence ISS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence ISS]"		"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence ISS]; Interacting selectively with protein kinase C [goid 5080] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with actinin, any member of a family of proteins that crosslink F-actin [goid 42805] [evidence ISS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence ISS]; Interacting selectively with protein kinase C [goid 5080] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with actinin, any member of a family of proteins that crosslink F-actin [goid 42805] [evidence ISS]"	LIM; ENH; L9; ENH1	ENH; LIM; L9; ENH1
Select regulatory molecule -> G-protein -> Small GTPase	Signal transduction -> Intracellular signaling cascade;Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis;Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_165060	ILMN_165060	RAB27A	NM_004580.3	NM_004580.3		5873	34485707	NM_004580.3	RAB27A	NP_004571.2	ILMN_2329773	110010	A	2663	GAGGAAAAGATTTAGACATTTCAAGAGCAGGGTTGGCCAGGCGCGGTGGC	15	-	53283195-53283244	15q21.3b	"Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 1, mRNA."	"The outer segment of a vertebrate photoreceptor that contains discs of photoreceptive membranes [goid 1750] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [evidence IEA]; A branching protoplasmic process of a neuron that receive and integrate signals coming from axons of other neurons, and convey the resulting signal to the body of the cell [goid 30425] [pmid 11266474] [evidence IDA]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [pmid 11266474] [evidence IDA]"	"The process of targeting specific proteins to particular membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif [goid 6605] [evidence IEA]; Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a melanocyte [goid 30318] [evidence IEA]; Any process by which a melanosome is transported to, and/or maintained in, a specific location within the cell [goid 32400] [evidence IEA]; The directed movement of melanosomes into, out of, within or between cells [goid 32402] [evidence IEA]; The regulated exocytosis of secretory granules containing preformed mediators such as perforin and granzymes by a cytotoxic T cell [goid 43316] [evidence IEA]; The regulated exocytosis of secretory granules containing preformed mediators such as perforin and granzymes by a natural killer cell [goid 43320] [evidence IEA]; The deposition or aggregation of coloring matter in an organism, tissue or cell [goid 43473] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 9066979] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with a class V myosin; myosin V is a dimeric molecule involved in intracellular transport [goid 31489] [evidence IEA]"	GS2; MGC117246; RAM; RAB27; HsT18676	RAB27; HsT18676; GS2; MGC117246; RAM
Membrane traffic protein -> Membrane traffic regulatory protein	Intracellular protein traffic	Homo sapiens	RefSeq	ILMN_3880	ILMN_3880	SNX5	NM_014426.2	NM_014426.2		27131	23111045	NM_014426.2	SNX5	NP_055241.1	ILMN_1709772	5270121	A	1640	TACAAACCCATGATTGTCAGGGAGGTGCCAGTTACAGCAGGTGATTCAGC	20	-	17870612-17870661	20p11.23d	"Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA."		"Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]; Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment [goid 7154] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any inositol-containing glycerophospholipid [goid 35091] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any inositol-containing glycerophospholipid [goid 35091] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any inositol-containing glycerophospholipid [goid 35091] [evidence IEA]	FLJ10931	FLJ10931
Miscellaneous function -> Other miscellaneous function protein	Lipid, fatty acid and steroid metabolism -> Other lipid, fatty acid and steroid metabolism;Immunity and defense -> B-cell- and antibody-mediated immunity;Immunity and defense -> Macrophage-mediated immunity;Immunity and defense -> Granulocyte-mediated immunity	Homo sapiens	RefSeq	ILMN_3192	ILMN_3192	ALOX5AP	NM_001629.2	NM_001629.2		241	15718674	NM_001629.2	ALOX5AP	NP_001620.2	ILMN_1797875	3930343	S	664	TCTATTGGCCATCTGGGCTTCACAGCTTGAGTTAACCTTGCTTTTCCGGG	13	+	30236347-30236396	13q12.3c	"Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 2300173] [evidence TAS]; The chemical reactions and pathways resulting in the formation of leukotriene, a pharmacologically active substance derived from a polyunsaturated fatty acid, such as arachidonic acid [goid 19370] [evidence IEA]"	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [pmid 2300173] [evidence TAS]; Increases the activity of an enzyme [goid 8047] [pmid 2300173] [evidence TAS]"	FLAP	FLAP
Protease -> Metalloprotease	Protein metabolism and modification -> Proteolysis;Signal transduction -> Cell communication -> Cell adhesion-mediated signaling	Homo sapiens	RefSeq	ILMN_4294	ILMN_4294	ADAMTS13	NM_139025.2	NM_139025.2		11093	73695933	NM_139025.2	ADAMTS13	NP_620594.1	ILMN_2286570	1240470	I	3863	CCCACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGT	9	+	135310397-135310446	9q34.2a	"Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [pmid 11557746] [evidence TAS]; The external part of the cell wall and/or plasma membrane [goid 9986] [pmid 11557746] [evidence NAS]	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [pmid 11535495] [evidence IDA]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [pmid 11557746] [evidence NAS]; Any series of molecular signals generated as a consequence of an integrin binding to one of its physiological ligands [goid 7229] [pmid 11557746] [evidence NAS]; The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues other than as a moiety of nucleic acid; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide [goid 9100] [pmid 11557746] [evidence NAS]; The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations [goid 16485] [pmid 11557746] [evidence TAS]; A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug [goid 30168] [pmid 11557746] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another [goid 43171] [pmid 11535495] [evidence IDA]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 4222] [evidence IEA]; Interacting selectively with an integrin [goid 5178] [pmid 11557746] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 11557746] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12775718] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 11557746] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	VWFCP; DKFZp434C2322; MGC118899; FLJ42993; C9orf8; MGC118900; vWF-CP; TTP	FLJ42993; C9orf8; MGC118900; VWFCP; DKFZp434C2322; MGC118899; vWF-CP; TTP
Hydrolase -> Other hydrolase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism;Sulfur metabolism	Homo sapiens	RefSeq	ILMN_29555	ILMN_29555	ARSI	NM_001012301.1	NM_001012301.1		340075	59797059	NM_001012301.1	ARSI	NP_001012301.1	ILMN_1727156	4230161	S	1367	CCAGTGTCCGCCAGGCCGTGTGGCTCTTCAACATCAGTGCTGACCCTTAT	5	-	149657263-149657312	5q33.1c	"Homo sapiens arylsulfatase family, member I (ARSI), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of the reaction: a phenol sulfate + H2O = a phenol + SO4(2-) (sulfate) [goid 4065] [pmid 16174644] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FLJ16069	FLJ16069
Extracellular matrix -> Extracellular matrix structural protein	Developmental processes -> Ectoderm development -> Neurogenesis;Developmental processes -> Mesoderm development -> Skeletal development	Homo sapiens	RefSeq	ILMN_10498	ILMN_10498	NCDN	NM_001014839.1	NM_001014839.1		23154	62526028	NM_001014839.1	NCDN	NP_001014839.1	ILMN_2359500	160390	A	2904	AGGCCTGGTGGGGGGTGGGGAAACCTCCTTCCACCTGAGCTTGCTTGAAG	1	+	35804438-35804487	1p34.3e	"Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]"	"The process by which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products [goid 45453] [evidence IEA]"		KIAA0607	KIAA0607
Membrane traffic protein -> Membrane traffic regulatory protein	Intracellular protein traffic -> Exocytosis	Homo sapiens	RefSeq	ILMN_25491	ILMN_25491	CHR415SYT	NM_001014372.2	NM_001014372.2		401135	75677553	NM_001014372.2	CHR415SYT	NP_001014394.1	ILMN_2088673	240167	S	1966	GCAACGATTCCTCAGAACAGTGTCGCAAGATCTTTATTTCCTCCGAAGTA	4	-	68609535-68609584	4q13.2b	"Homo sapiens chr415 synaptotagmin (CHR415SYT), mRNA."				sytdep	sytdep
Nucleic acid binding -> Other RNA-binding protein	Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_13522	ILMN_13522	RDBP	NM_002904.5	NM_002904.5		7936	67906819	NM_002904.5	RDBP	NP_002895.3	ILMN_1765532	1820538	S	1509	ACATGGCCAGTGCCTGTTCCCCACTCCCTTGCCCCAAAAGGATCTGGAAC	6	-	32027845-32027894	6p21.32b	"Homo sapiens RD RNA binding protein (RDBP), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 2119325] [evidence NAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12676794] [evidence EXP]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 18029348] [evidence IDA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 2119325] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14667819] [evidence IPI]"	RDP; NELF-E; D6S45; RD	RDP; NELF-E; D6S45; RD
Membrane traffic protein -> Other membrane traffic protein	Intracellular protein traffic -> Other intracellular protein traffic;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_21571	ILMN_21571	TRAK2	NM_015049.1	NM_015049.1		66008	13027379	NM_015049.1	TRAK2	NP_055864.1	ILMN_1781691	3170112	S	6270	CAGTGTGATAACTGAGCGGTCGCATGGCAGAGGACATCCCCCTCAGAGTG	2	-	201950317-201950366	2q33.1f	"Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12034717] [evidence ISS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 12034717] [evidence ISS]"		"Interacting selectively with the gamma-aminobutyric acid (GABA, 4-aminobutyrate) receptor [goid 50811] [pmid 15644324] [evidence NAS]"	KIAA0549; GRIF1; ALS2CR3; OIP98; GRIF-1; CALS-C	KIAA0549; GRIF1; ALS2CR3; OIP98; GRIF-1; CALS-C
Transporter -> Other transporter	Protein targeting and localization -> Protein targeting;Transport -> Other transport;Sensory perception -> Hearing;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_8352	ILMN_8352	TIMM8A	NM_004085.2	NM_004085.2		1678	6138974	NM_004085.2	TIMM8A	NP_004076.1	ILMN_1722239	3360156	S	1046	GATTTAGGCCAATCAGAAGCTAACAGCAGTTTCAGGTAGAGGTGCATGCC	X	-	100487376-100487425	Xq22.1c	"Homo sapiens translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A), nuclear gene encoding mitochondrial protein, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Soluble complex of the mitochondrial intermembrane space composed of various combinations of small Tim proteins; acts as a protein transporter to guide proteins to the Tim22 complex for insertion into the mitochondrial inner membrane [goid 42719] [evidence IEA]"	"The process of directing proteins towards and into the mitochondrion, mediated by mitochondrial proteins that recognize signals contained within the imported protein [goid 6626] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8841189] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The import of proteins into the mitochondria inner membrane. Inner membrane proteins are first imported into the matrix space where the matrix-targeting sequence is removed; how these proteins then are incorporated into the inner membrane is not known [goid 45039] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	DFN1; MTS; DDP1; DDP; MGC12262	DFN1; DDP; MTS; DDP1; MGC12262
		Homo sapiens	RefSeq	ILMN_175651	ILMN_175651	C15ORF57	NM_001080791.1	NM_001080791.1		90416	124248540	NM_001080791.1	C15orf57	NP_001074260.1	ILMN_2413318	5570575	A	1057	TGGGGCTGGCATGTGTGACTGTCTCGGATGAAGTGACTGACCCAGTGCAC	15	-	38633213-38633262	15q15.1b	"Homo sapiens chromosome 15 open reading frame 57 (C15orf57), transcript variant 3, mRNA."				FLJ25915; MGC20481	MGC20481; FLJ25915
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7561	ILMN_7561	C20ORF29	NM_018347.1	NM_018347.1		55317	8922912	NM_018347.1	C20orf29	NP_060817.1	ILMN_1785644	3940059	S	1577	GGCAGTATTATCAACAAGGTCCTGCTCAGTGTCCAGCCCCCGCTGAGTTC	20	+	3753699-3753748	20p13b	"Homo sapiens chromosome 20 open reading frame 29 (C20orf29), mRNA."				FLJ11168	FLJ11168
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Nucleoside, nucleotide and nucleic acid metabolism -> rRNA metabolism;Protein metabolism and modification -> Protein modification -> Protein phosphorylation	Homo sapiens	RefSeq	ILMN_21548	ILMN_21548	RIOK1	NM_153005.1	NM_153005.1		83732	23510357	NM_153005.1	RIOK1	NP_694550.1	ILMN_1670318	3870370	I	74	GTTCAGATTTTTCCCTCCAGTTGGTTTAATTTCTATTTCCTAAAACATTA	6	+	7347952-7348001	6p24.3c	"Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 2, mRNA."			"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	FLJ30006; MGC12903; AD034; bA288G3.1	FLJ30006; MGC12903; AD034; bA288G3.1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10287	ILMN_10287	C6ORF105	NM_032744.1	NM_032744.1		84830	14249371	NM_032744.1	C6orf105	NP_116133.1	ILMN_2078592	2650192	S	577	GCCGCATCCTATGGCTCTACTTTGAGACGGGTACCTGGGTGTATCCTGTG	6	-	11831673-11831719:11843787-11843789	6p24.1c	"Homo sapiens chromosome 6 open reading frame 105 (C6orf105), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			dJ413H6.1; MGC12335; RP3-413H6.1	RP3-413H6.1; dJ413H6.1; MGC12335
Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase	Amino acid metabolism -> Amino acid catabolism;Coenzyme and prosthetic group metabolism -> Pterin metabolism	Homo sapiens	RefSeq	ILMN_26096	ILMN_26096	QDPR	NM_000320.1	NM_000320.1		5860	4506358	NM_000320.1	QDPR	NP_000311.1	ILMN_1672443	6900450	S	1085	GGTGTCATGTTGGATCGCTTTGTGACTGTTCATCTGTCCTTGACAGTGGC	4	-	17097498-17097547	4p15.32b	"Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving amino acids, organic acids containing one or more amino substituents [goid 6520] [pmid 3033643] [evidence TAS]; The chemical reactions and pathways resulting in the breakdown of phenylalanine, 2-amino-3-phenylpropanoic acid [goid 6559] [evidence IEA]; The chemical reactions and pathways resulting in the formation of tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine [goid 6729] [evidence IEA]; The chemical reactions and pathways involving dihydrobiopterin, a reduced pteridine derivative related to folic acid; it acts as an electron carrier in tyrosine biosynthesis and its quinoid form is produced by oxidation of tetrahydrobiopterin in several biological hydroxylation reactions [goid 51066] [pmid 3033643] [evidence TAS]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine [goid 4155] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine [goid 4155] [pmid 3033643] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [pmid 3033643] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]"	PKU2; FLJ42391; DHPR	FLJ42391; DHPR; PKU2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27754	ILMN_27754	EPSTI1	NM_033255.2	NM_033255.2		94240	50428918	NM_033255.2	EPSTI1	NP_150280.1	ILMN_2388547	5700725	A	1287	GGGAGTCACTTGATGCTTTCAGGTTAATCAGAGCTATGGGTGCTACAGGC	13	-	42360293-42360342	13q14.11c-q14.11d	"Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 2, mRNA."				MGC29634; BRESI1	BRESI1; MGC29634
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19748	ILMN_19748	APOM	NM_019101.2	NM_019101.2		55937	22091451	NM_019101.2	APOM	NP_061974.2	ILMN_1731941	3830022	S	499	GCGCTTTCTCCTCTACAATCGCTCACCACATCCTCCCGAAAAGTGTGTGG	6	+	31733218-31733234:31733381-31733413	6p21.33a	"Homo sapiens apolipoprotein M (APOM), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10531326] [evidence TAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 10531326] [evidence TAS]; The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane [goid 6643] [pmid 10531326] [evidence TAS]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [evidence IEA]; The chemical reactions and pathways involving any conjugated, water-soluble protein in which the nonprotein moiety consists of a lipid or lipids [goid 42157] [evidence IEA]; The directed movement of periperal cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism [goid 43691] [evidence IEA]"	"Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [pmid 10531326] [evidence TAS]"	G3a; HSPC336; NG20; MGC22400	G3a; HSPC336; NG20; MGC22400
Phosphatase -> Protein phosphatase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Homeostasis -> Glucose homeostasis	Homo sapiens	RefSeq	ILMN_5417	ILMN_5417	PTPN1	NM_002827.2	NM_002827.2		5770	18104977	NM_002827.2	PTPN1	NP_002818.1	ILMN_1681591	4390703	S	3016	ACCCTGCAGAGCTATGGTGAGGTGTGGATAAGGCTTAGGTGCCAGGCTGT	20	+	48634193-48634242	20q13.13e-q13.13f	"Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10748206] [evidence TAS]; The series of molecular signals generated as a consequence of the insulin receptor binding to insulin [goid 8286] [evidence IEA]"	"Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [pmid 10748206] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12907755] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17159996] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11106648] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16291744] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17159996] [evidence IPI]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	PTP1B	PTP1B
Signaling molecule -> Other signaling molecule	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22300	ILMN_18782	SH3KBP1	NM_031892.1	NM_031892.1		30011	13994241	NM_031892.1	SH3KBP1	NP_114098.1	ILMN_1808501	6020152	A	2739	CTTTTGCTTCAGGCTAAGAGCTGCCTCGCTCTTTGTCCCCCCATTAGGAT	X	-	19463956-19464005	Xp22.12b	"Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15962011] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12218189] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10567358] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11894095] [evidence EXP]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16407834] [evidence EXP]; Any of the discrete particles (nerve-ending particles) formed from the clublike presynaptic nerve endings that resist disruption and are snapped or torn off their attachments when brain tissue is homogenized in media isosmotic to plasma [goid 19717] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 10679202] [evidence NAS]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12029088] [evidence IPI]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]"	GIG10; MIG18; CIN85	GIG10; MIG18; CIN85
Signaling molecule -> Other signaling molecule	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18782	ILMN_18782	SH3KBP1	NM_031892.1	NM_031892.1		30011	13994241	NM_031892.1	SH3KBP1	NP_114098.1	ILMN_1810782	3450059	I	3032	CCACTAGAGGCCACTGTCTTCAAAGCTTCTCTCACCCTAGCCAAAGGTCC	X	-	19463663-19463712	Xp22.12b	"Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 15962011] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12218189] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10567358] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 11894095] [evidence EXP]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16407834] [evidence EXP]; Any of the discrete particles (nerve-ending particles) formed from the clublike presynaptic nerve endings that resist disruption and are snapped or torn off their attachments when brain tissue is homogenized in media isosmotic to plasma [goid 19717] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The lipid bilayer surrounding a cytoplasmic vesicle [goid 30659] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 10679202] [evidence NAS]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12029088] [evidence IPI]; Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]"	GIG10; MIG18; CIN85	GIG10; MIG18; CIN85
Select regulatory molecule -> G-protein -> Small GTPase	Signal transduction -> Intracellular signaling cascade;Intracellular protein traffic -> Endocytosis -> Receptor mediated endocytosis;Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_22367	ILMN_22367	RAB40C	NM_021168.2	NM_021168.2		57799	46195788	NM_021168.2	RAB40C	NP_066991.2	ILMN_1712705	7050193	S	2530	TACCCGCGCTGCTGTTAGACACTCCGCCATTCCTGGTTCTCTCCGAACCG	16	+	619191-619240	16p13.3f	"Homo sapiens RAB40C, member RAS oncogene family (RAB40C), mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	RASL8C; RARL	RASL8C; RARL
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Apoptosis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_23825	ILMN_23825	PRKD2	NM_016457.3	NM_016457.3		25865	48255892	NM_016457.3	PRKD2	NP_057541.2	ILMN_1753805	990138	S	2492	AGCTGGAGGGGAAGATGGGAGAGCGATACATCACGCATGAGAGTGACGAC	19	-	51869754-51869803	19q13.32b	"Homo sapiens protein kinase D2 (PRKD2), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence NAS]"	The process of introducing a phosphate group on to a protein [goid 6468] [evidence NAS]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 11062248] [evidence NAS]; A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence NAS]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein, with a requirement for diacylglycerol [goid 4697] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence NAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with diacylglycerol, a diester of glycerol and two fatty acids [goid 19992] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	HSPC187; PKD2	HSPC187; PKD2
		Homo sapiens	RefSeq	ILMN_163677	ILMN_163677	LOC389827	NM_001080483.1	NM_001080483.1		389827	122937401	NM_001080483.1	LOC389827	NP_001073952.1	ILMN_2144295	1500717	S	471	CCTCTGCTTCGGGGCGCTGGCCCTGATGCTACGCTTCTTCTTTGAGGACT	9	-	135369724-135369728:135370434-135370478	9q34.2a	"Homo sapiens transmembrane protein 8-like (LOC389827), mRNA."
		Homo sapiens	RefSeq	ILMN_30855	ILMN_163677	LOC389827	NM_001080483.1	NM_001080483.1		389827	122937401	NM_001080483.1	LOC389827	NP_001073952.1	ILMN_1661514	6590307	S	86	GGTTCCACATGGAGGCCATGGTCTACCTCTTCACCCTGTTCTTCGTGGCG	9	-	135375231-135375231:135379653-135379701	9q34.2a	"Homo sapiens transmembrane protein 8-like (LOC389827), mRNA."
Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_137530	ILMN_28361	HOXA1	NM_153620.2	NM_153620.2		3198	84697021	NM_153620.2	HOXA1	NP_705873.2	ILMN_1680740	1990239	A	2257	CATGGATACTTCCTGGGTCAAGTGCTAACCTTTTCACCTCCAACTGGATG	7	-	27099176-27099225	7p15.2a	"Homo sapiens homeobox A1 (HOXA1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 7622051] [evidence TAS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 7622051] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	BSAS; HOX1; HOX1F; MGC45232	BSAS; HOX1; HOX1F; MGC45232
Transfer/carrier protein -> Other transfer/carrier protein	Developmental processes -> Gametogenesis -> Spermatogenesis and motility	Homo sapiens	RefSeq	ILMN_41412	ILMN_41412	LCN12	NM_178536.3	NM_178536.3		286256	89886463	NM_178536.3	LCN12	NP_848631.2	ILMN_2172933	6940646	S	380	ACAGCGACTACACCCAGTTCGCCCTGATGCTGTCCCGCAGACACACGAGC	9	+	138968157-138968206	9q34.3e	"Homo sapiens lipocalin 12 (LCN12), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	MGC48935; MGC34753	MGC48935; MGC34753
Select regulatory molecule -> G-protein -> Large G-protein	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling	Homo sapiens	RefSeq	ILMN_20694	ILMN_20694	GNAI1	NM_002069.4	NM_002069.4		2770	33946323	NM_002069.4	GNAI1	NP_002060.4	ILMN_2131467	4260528	S	3115	ACTGGTGGACCTGTAATATCCACATTGTGAAGCTGTGTATGAAATTCAAC	7	+	79686458-79686507	7q21.11b	"Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), mRNA."	Any of a family of heterotrimeric GTP-binding and hydrolyzing proteins; they belong to a superfamily of GTPases that includes monomeric proteins such as EF-Tu and RAS. Heterotrimeric G-proteins consist of three subunits; the alpha subunit contains the guanine nucleotide binding site and possesses GTPase activity; the beta and gamma subunits are tightly associated and function as a beta-gamma heterodimer; extrinsic plasma membrane proteins (cytoplasmic face) that function as a complex to transduce signals from G-protein coupled receptors to an effector protein [goid 5834] [pmid 3110783] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3139448] [evidence TAS]	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 2834384] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15537540] [evidence IPI]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with guanyl nucleotides, any compound consisting of guanosine esterified with (ortho)phosphate [goid 19001] [evidence IEA]"	Gi	Gi
Signaling molecule -> Cytokine -> Interleukin	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> MAPKKK cascade;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense;Apoptosis -> Inhibition of apoptosis	Homo sapiens	RefSeq	ILMN_16803	ILMN_4978	IL15	NM_000585.2	NM_000585.2		3600	26787979	NM_000585.2	IL15	NP_000576.1	ILMN_1724181	870408	A	1235	TTGGTGGGGCTGGGTACCAATGCTGCAGGTCAACAGCTATGCTGGTAGGC	4	+	142873828-142873877	4q31.21a-q31.21b	"Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10851076] [evidence TAS]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 10851076] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10851076] [evidence TAS]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 10851076] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 10851076] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10851076] [evidence TAS]"	"The expansion of a NK T cell population by cell division [goid 1866] [evidence IEA]; Any process that activates or increases the rate or extent of T cell proliferation [goid 42102] [evidence IEA]; The process of T cell selection that occurs in extrathymic locations, often resulting T cells of distinct specificities from those selected in the thymus [goid 45062] [evidence IEA]; Any process that modulates the frequency, rate or extent of T cell differentiation [goid 45580] [evidence IEA]; The process whose specific outcome is the progression of lymph nodes over time, from their formation to the mature structure. A lymph node is a round, oval, or bean shaped structure localized in clusters along the lymphatic vessels, with a distinct internal structure including specialized vasculature and B- and T-zones for the activation of lymphocytes [goid 48535] [evidence IEA]; Any host process that modulates the frequency, rate, or extent of the antiviral response of a host cell or organism [goid 50691] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50778] [evidence IEA]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 8178155] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8178155] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 7759105] [evidence TAS]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [pmid 10851076] [evidence TAS]"	 [goid 5126] [evidence IEA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 8178155] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 10851076] [evidence TAS];  [goid 5126] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16284400] [evidence IPI]	IL-15; MGC9721	MGC9721; IL-15
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_5299	ILMN_5299	PRRG3	NM_024082.2	NM_024082.2		79057	31543810	NM_024082.2	PRRG3	NP_076987.2	ILMN_1652938	730630	S	1470	CTGTGTCTAGAGCTCTGGGCCTCAGGGGTAAGGGAAGGAAGCCAGCCTTT	X	+	150620545-150620594	Xq28d	"Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 11171957] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	MGC156177; MGC149510; PRGP3; TMG3	MGC156177; TMG3; MGC149510; PRGP3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24761	ILMN_24761	C6ORF130	NM_145063.2	NM_145063.2		221443	34147711	NM_145063.2	C6orf130	NP_659500.1	ILMN_1804834	780187	S	901	CCTTTTTCTCCAGTATGCTACCTGATTTGTTTGGCTGGCCACTAGGTGGC	6	-	41142732-41142781	6p21.1h	"Homo sapiens chromosome 6 open reading frame 130 (C6orf130), mRNA."				MGC19570; dJ34B21.3	MGC19570; dJ34B21.3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27260	ILMN_179563	INSC	NM_001042536.1	NM_001042536.1		387755	110227583	NM_001042536.1	INSC	NP_001036001.1	ILMN_1756070	5910288	S	1531	AGATCCCCATCAGAGAGGAACAGCAGTGACGCCGTGCTTGTGGCCTGCCT	11	+	15218595-15218644	11p15.2a	"Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_179563	ILMN_179563	INSC	NM_001042536.1	NM_001042536.1		387755	110227583	NM_001042536.1	INSC	NP_001036001.1	ILMN_2340643	6650373	A	1673	TCTTACTCTGCAGCAACATGGAGGAGAGTTTTGTGTAGTGAGTGTGGGCG	11	+	15224125-15224162:15224163-15224174	11p15.2a	"Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]"	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"
Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription initiation;Oncogenesis	Homo sapiens	RefSeq	ILMN_18343	ILMN_18343	PHF15	NM_015288.4	NM_015288.4		23338	40556369	NM_015288.4	PHF15	NP_056103.4	ILMN_1795285	770411	S	6247	ACGAGCAATAGAATGTATGGTCACCTGGGTGTGGCCAGTGCCCGCTGTGC	5	+	133946601-133946650	5q31.1e	"Homo sapiens PHD finger protein 15 (PHF15), mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	JADE2; KIAA0239	JADE2; KIAA0239
Molecular function unclassified	Immunity and defense -> Stress response	Homo sapiens	RefSeq	ILMN_29346	ILMN_29346	MOCOS	NM_017947.1	NM_017947.1		55034	8923660	NM_017947.1	MOCOS	NP_060417.1	ILMN_1673522	4610632	S	2408	CAATTGGCTCTTTGCGTTTCCAGGTTTTGGGGCCTTGTCACAGATGCCAG	18	+	32094114-32094136:32100710-32100736	18q12.2a	"Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"The chemical reactions and pathways resulting in the formation of the Mo-molybdopterin cofactor, essential for the catalytic activity of some enzymes. The cofactor consists of a mononuclear molybdenum (Mo) ion coordinated by one or two molybdopterin ligands [goid 6777] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways involving the molybdopterin cofactor (Moco), essential for the catalytic activity of some enzymes, e.g. sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The cofactor consists of a mononuclear molybdenum (Mo-molybdopterin) or tungsten ion (W-molybdopterin) coordinated by one or two molybdopterin ligands [goid 43545] [pmid 11302742] [evidence IMP]"	" [goid 8265] [pmid 11302742] [evidence IMP]; Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring [goid 16829] [evidence IEA]; Interacting selectively with molybdenum (Mo) ions [goid 30151] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]"	FLJ20733; HMCS; MOS	MOS; FLJ20733; HMCS
Transcription factor -> HMG box transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_1642	ILMN_162552	SOX5	NM_152989.2	NM_152989.2		6660	30061560	NM_152989.2	SOX5	NP_694534.1	ILMN_1760051	4070671	A	4188	GGCTGCACCCAGGGATCCTTGCCACTGCTCTTCCCTTGCTGTCAGATTAA	12	-	23576806-23576855	12p12.1c-p12.1b	"Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 8812465] [evidence TAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 8812465] [evidence TAS]	MGC35153; L-SOX5	MGC35153; L-SOX5
Transcription factor -> HMG box transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_162552	ILMN_162552	SOX5	NM_152989.2	NM_152989.2		6660	30061560	NM_152989.2	SOX5	NP_694534.1	ILMN_2343677	1050091	A	3649	CCCACATCTGGGGATGAAATCCCACATCCTCCCAAGTGACTGGTCTAGAA	12	-	23577345-23577394	12p12.1c-p12.1b	"Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 8812465] [evidence TAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 8812465] [evidence TAS]	MGC35153; L-SOX5	MGC35153; L-SOX5
Isomerase -> Other isomerase	Protein metabolism and modification -> Protein modification -> Protein disulfide-isomerase reaction	Homo sapiens	RefSeq	ILMN_26083	ILMN_26083	ERP27	NM_152321.1	NM_152321.1		121506	22748702	NM_152321.1	ERP27	NP_689534.1	ILMN_1655261	940639	S	1387	GTCTTTTTGCCAGAAGTTAAAGGCTGTCTCCAAGTCCCTGAACTCAGCAG	12	-	14958334-14958383	12p12.3e	"Homo sapiens endoplasmic reticulum protein 27 kDa (ERP27), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [evidence IEA]"			ERp27; FLJ32115; C12orf46	ERp27; FLJ32115; C12orf46
Signaling molecule -> Other signaling molecule;Miscellaneous function -> Other miscellaneous function protein	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> NF-kappaB cascade;Signal transduction -> Intracellular signaling cascade -> JNK cascade;Apoptosis -> Induction of apoptosis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_15779	ILMN_15779	TRAF2	NM_021138.3	NM_021138.3		7186	42544228	NM_021138.3	TRAF2	NP_066961.2	ILMN_1691487	2470465	S	1929	GGAGCACAGTGGATGGCCTTGTGTCCCTCGGGCATGACAGGCAGAAACGA	9	+	138940540-138940589	9q34.3e	"Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 7758105] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12887920] [evidence EXP]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 30163] [evidence IEA]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade [goid 46328] [evidence IEA]; Any process that modulates the frequency, rate or extent of the regulated release of immunoglobulins from a cell or group of cells [goid 51023] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 30163] [evidence IEA]; Any process that modulates the frequency, rate or extent of signal transduction mediated by the JNK cascade [goid 46328] [evidence IEA]; Any process that modulates the frequency, rate or extent of the regulated release of immunoglobulins from a cell or group of cells [goid 51023] [evidence IEA]; Any process that activates or increases the frequency, rate, or extent of T cell cytokine production [goid 2726] [pmid 15125833] [evidence IMP]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 8702708] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8702708] [evidence TAS]; The stimulation of the activity of NF-kappaB-inducing kinase through phosphorylation at specific residues [goid 7250] [pmid 15125833] [evidence IMP]; The conversion of proteins that induce or sustain apoptosis to an active form [goid 8633] [pmid 14644197] [evidence EXP]; Any process that activates or increases the frequency, rate, or extent of interleukin-2 production [goid 32743] [pmid 15125833] [evidence IMP]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of T cell activation [goid 50870] [pmid 15125833] [evidence IC ]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 8702708] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11466612] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11777919] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	TRAP3; TRAP; MGC:45012	TRAP3; TRAP; MGC:45012
Transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Oncogenesis -> Oncogene	Homo sapiens	RefSeq	ILMN_177655	ILMN_177655	SSX6	NM_173357.2	NM_173357.2		280657	28559018	NM_173357.2	SSX6	NP_775493.1	ILMN_2092943	510021	S	80	TAGGCGGGAAAATCAGAGTCTCCGTCAGAGTGCTCCTGGTGCCATGAACG	X	+	47852111-47852133:47854288-47854307:47854308-47854314	Xp11.23e	"Homo sapiens synovial sarcoma, X breakpoint 6 (SSX6), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]	dJ54B20.1	dJ54B20.1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_10135	ILMN_10135	PRR17	NM_207349.1	NM_207349.1		284739	46409331	NM_207349.1	PRR17	NP_997232.1	ILMN_1674924	1450717	S	1397	AGAAAGAAGTAACCTCCCAAGCTGACCCTGACCCAGCCCCACACTCTGTG	20	+	62141506-62141555	20q13.33e	"Homo sapiens proline rich 17 (PRR17), mRNA."				FLJ27267; DKFZp434G015	FLJ27267; DKFZp434G015
Nucleic acid binding -> Primase;Transferase -> Nucleotidyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication	Homo sapiens	RefSeq	ILMN_27188	ILMN_27188	PRIM2	NM_000947.2	NM_000947.2		5558	41349494	NM_000947.2	PRIM2	NP_000938.2	ILMN_1694100	5700279	I	1924	CGTCCCAGAGTGCTGGGATTACGGTTGTGAGCCACTGTGCCTGGCCTTTT	6	+	57620968-57621017	6p11.2a	"Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA."	"That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9822671] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 6693436] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11473323] [evidence EXP]; A complex of four polypeptides, comprising large and small DNA polymerase alpha subunits and two primase subunits, which catalyzes the synthesis of an RNA primer on the lagging strand of replicating DNA; the smaller of the two primase subunits alone can catalyze oligoribonucleotide synthesis [goid 5658] [evidence IEA]"	"The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]; The synthesis of a short RNA polymer, usually 4-15 nucleotides long, using one strand of unwound DNA as a template; the RNA then serves as a primer from which DNA polymerases extend synthesis [goid 6269] [pmid 8026492] [evidence TAS]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the synthesis of a short RNA primer on a DNA template, providing a free 3'-OH that can be extended by DNA-directed DNA polymerases. Catalyzed by a DNA-directed RNA polymerase that forms a complex with alpha DNA polymerase [goid 3896] [pmid 8026492] [evidence TAS]; Interacting selectively with iron (Fe) ions [goid 5506] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a nucleotidyl group to a reactant [goid 16779] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands [goid 51539] [evidence IEA]"	PRIM2A; PRIM2; p58; MGC75142	PRIM2A; PRIM2; p58; MGC75142
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2979	ILMN_2979	CCDC109A	NM_138357.1	NM_138357.1		90550	24308399	NM_138357.1	CCDC109A	NP_612366.1	ILMN_1672759	4050382	S	2652	CTTCTCCCTCCACCACCCCCAGTCGTCAGCTCCTTCCCTCATTTATTTTT	10	+	74317161-74317210	10q22.1f-q22.1g	"Homo sapiens coiled-coil domain containing 109A (CCDC109A), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			C10orf42; FLJ46135	FLJ46135; C10orf42
Molecular function unclassified	Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_8824	ILMN_8824	NDRG4	NM_022910.1	NM_022910.1		65009	13430863	NM_022910.1	NDRG4	NP_075061.1	ILMN_2305225	7330739	A	2763	CTCCCATGTGTGGTGTTCTTCTGGAGGTTGTCTCTTTGGTCAAGGTGAAC	16	+	57104605-57104654	16q21a	"Homo sapiens NDRG family member 4 (NDRG4), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11352569] [evidence NAS]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [pmid 11352569] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process by which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present [goid 16049] [pmid 11352569] [evidence NAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [pmid 11352569] [evidence NAS]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [pmid 11978393] [evidence NAS]"		KIAA1180; FLJ42011; MGC19632; SMAP-8; FLJ30586; DKFZp686I1615	KIAA1180; FLJ42011; MGC19632; SMAP-8; FLJ30586; DKFZp686I1615
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6279	ILMN_6279	C17ORF46	NM_152343.2	NM_152343.2		124783	149408116	NM_152343.2	C17orf46	NP_689556.2	ILMN_1670707	520746	S	1065	CTTCAGCAAGCCGGGGATCAAGAGGGCCACCATCAAAGGGCAAATCCAGC	17	-	40688313-40688362	17q21.31d	"Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA."				FLJ25414	FLJ25414
Transferase -> Transketolase	Carbohydrate metabolism -> Pentose-phosphate shunt;Coenzyme and prosthetic group metabolism -> Vitamin metabolism	Homo sapiens	RefSeq	ILMN_28296	ILMN_28296	TKTL2	NM_032136.4	NM_032136.4		84076	133778973	NM_032136.4	TKTL2	NP_115512.3	ILMN_1713533	4490424	S	2506	ACAGATAATGTTTGACTGCAGTTGCCTTGGAAATTCCTCCAAAGTTTGCC	4	-	164611942-164611991	4q32.3a	"Homo sapiens transketolase-like 2 (TKTL2), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11256614] [evidence IDA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of the reaction: sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate = D-ribose 5-phosphate + D-xylulose 5-phosphate [goid 4802] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	FLJ32975; DKFZP434L1717	FLJ32975; DKFZP434L1717
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19045	ILMN_19045	UNC50	NM_014044.4	NM_014044.4		25972	37059764	NM_014044.4	UNC50	NP_054763.2	ILMN_1766981	5390561	S	1858	GTATCCATTTGCACCTCTGATTCTGCTCTACGGGCTTTCCCTGGCACTGG	2	+	98601096-98601145	2q11.2c	"Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope [goid 5637] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]"	Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	GMH1; DKFZp564G0222; HSD23; hGMH1p; UNCL; URP	URP; GMH1; DKFZp564G0222; HSD23; hGMH1p; UNCL
Transferase -> Methyltransferase	Other metabolism	Homo sapiens	RefSeq	ILMN_11215	ILMN_11215	PNMT	NM_002686.2	NM_002686.2		5409	31543421	NM_002686.2	PNMT	NP_002677.1	ILMN_1710027	5570170	S	789	AGATCTTGCCAGCTTTCAGCGGGCCCTGGACCACATCACCACGCTGCTGA	17	+	35079886-35079935	17q12c	"Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA."		"The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine [goid 42423] [evidence IEA]"	"Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + phenylethanolamine = S-adenosyl-L-homocysteine + N-methylphenylethanolamine [goid 4603] [pmid 2835776] [evidence TAS]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	PENT	PENT
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22376	ILMN_22376	EPB41L1	NM_177996.1	NM_177996.1		2036	30061490	NM_177996.1	EPB41L1	NP_818932.1	ILMN_1684534	6560255	I	3	GCCTGACTGACAGAAGTTCTTGCCCCCGGGGAGCTGGTGTGGACAGAGGA	20	+	34163764-34163813	20q11.23a	"Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Loosely bound to one surface of a membrane, but not integrated into the hydrophobic region [goid 19898] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Loosely bound to one surface of a membrane, but not integrated into the hydrophobic region [goid 19898] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]"	"A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane [goid 30866] [evidence IEA]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any protein component of any cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton) [goid 8092] [evidence IEA]"	KIAA0338; MGC11072; 4.1N; DKFZp686H17242	KIAA0338; 4.1N; DKFZp686H17242; MGC11072
Transporter -> Other transporter	Immunity and defense	Homo sapiens	RefSeq	ILMN_23066	ILMN_23066	MFSD8	NM_152778.1	NM_152778.1		256471	22749524	NM_152778.1	MFSD8	NP_689991.1	ILMN_2123119	7210762	S	1715	GCTGTGTGGCACTTCCTGGTCTAAAGCTCTGCTAGACAATTGCGGTGAGC	4	-	129061155-129061204	4q28.1e-q28.2a	"Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA."	"The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]"	CLN7; MGC33302	CLN7; MGC33302
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24710	ILMN_24710	PNRC1	NM_006813.1	NM_006813.1		10957	5802981	NM_006813.1	PNRC1	NP_006804.1	ILMN_1789955	4850095	S	1820	TGACTTCTACTTTACTGGCTGAGTGTGAGCCGCCATGCCTGGCCATAATC	6	+	89851353-89851402	6q15c	"Homo sapiens proline-rich nuclear receptor coactivator 1 (PNRC1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7578250] [evidence TAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 7578250] [evidence TAS]	PNAS-145; B4-2; PRR2; RP11-63L7.5; PROL2	B4-2; PRR2; RP11-63L7.5; PROL2; PNAS-145
		Homo sapiens	RefSeq	ILMN_180674	ILMN_180674	LILRB2	NM_001080978.1	NM_001080978.1		10288	125988397	NM_001080978.1	LILRB2	NP_001074447.1	ILMN_2312340	540671	A	2623	TATGGGAGTGAGCCAGCAGACAGCCCAGCAGATCCTACACACATTTTCAC	19	-	59469709-59469758	19q13.42a	"Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 2, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 9079806] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 15304001] [evidence EXP]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9079806] [evidence TAS]"	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 9079806] [evidence TAS]; A defense response that is mediated by cells [goid 6968] [pmid 9382880] [evidence TAS]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 9079806] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 9382880] [evidence TAS]	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [pmid 9382880] [evidence TAS]	ILT4; LIR2; LIR-2; MIR10; CD85D; MIR-10	ILT4; LIR2; LIR-2; MIR10; CD85D; MIR-10
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Cell cycle -> Cell cycle control;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_20584	ILMN_20584	CDC7	NM_003503.2	NM_003503.2		8317	11038647	NM_003503.2	CDC7	NP_003494.1	ILMN_1741801	4900044	S	2905	GACAGCATATCAAACTTCCTATGGGAAAAAGTCTGGTGGGTGGTCAGCTG	1	+	91763635-91763684	1p22.2a	"Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9250678] [evidence IDA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15707391] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 15226314] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10846177] [evidence EXP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9250678] [evidence IDA]"	"The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The meiotic divisions undergone by the primary and secondary spermatocytes to produce a cyst of haploid spermatids [goid 48137] [evidence IEA]; Progression from G1 phase to S phase of the mitotic cell cycle [goid 82] [pmid 9405610] [evidence TAS]; The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [pmid 12791985] [evidence EXP]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [pmid 17102137] [evidence IMP]; A cell cycle process that modulates the rate or extent of the progression through the S phase of the cell cycle [goid 33261] [pmid 17102137] [evidence IMP]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15232106] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	MGC126237; CDC7L1; huCDC7; MGC126238; HsCDC7; Hsk1; MGC117361	HsCDC7; MGC126237; CDC7L1; huCDC7; MGC126238; Hsk1; MGC117361
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Signal transduction -> Cell communication;Intracellular protein traffic -> Endocytosis -> Phagocytosis;Transport;Cell cycle -> Mitosis;Cell proliferation and differentiation;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_139130	ILMN_42145	CORO7	NM_024535.2	NM_024535.2		79585	88702974	NM_024535.2	CORO7	NP_078811.2	ILMN_1795949	3360167	S	3181	CAGGATCTTTGGTCACCCCACGCTGCCCCATCTTGCCTGCTGTTCCAGTT	16	-	4344759-4344808	16p13.3b	"Homo sapiens coronin 7 (CORO7), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; Integral to that fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes; require detergents, such as Triton X-100, to be released from membranes [goid 299] [evidence ISS]; That fraction of cells, prepared by disruptive biochemical methods, that is soluble in water [goid 5625] [evidence ISS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence ISS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"			FLJ44188; FLJ22021; CRN7; 0610011B16Rik	FLJ44188; FLJ22021; CRN7; 0610011B16Rik
Nucleic acid binding -> Nuclease	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA degradation	Homo sapiens	RefSeq	ILMN_173666	ILMN_173666	TATDN3	NM_001042552.1	NM_001042552.1		128387	110349729	NM_001042552.1	TATDN3	NP_001036017.1	ILMN_2330371	4290292	A	2012	GCCTGAGTTTGAGTCAGGCCTGGGCAACATAGATGTGAGCACCTATCTCT	1	+	211056229-211056278	1q32.3c	"Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"		"Catalysis of the hydrolysis of ester linkages within nucleic acids [goid 4518] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acids by creating internal breaks to yield 5'-phosphomonoesters [goid 16888] [evidence IEA]"	MGC142198	MGC142198
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1421	ILMN_1421	SLC9A3R1	NM_004252.2	NM_004252.2		9368	142385199	NM_004252.2	SLC9A3R1	NP_004243.1	ILMN_1680925	2450452	S	1836	GGCCTCAGCCTTAAACTTTTGTTCCTACTCCCACCCTCAGCGAACTGGGC	17	+	70276941-70276990	17q25.1b	"Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA."	"A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles [goid 12505] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 9430655] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 9430655] [evidence TAS]; The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state [goid 16055] [evidence IEA]; The regulation of the levels, transport, and metabolism of phosphate ions within a cell or between a cell and its external environment [goid 30643] [evidence IEA]; Any process that modulates the activity of a sodium:hydrogen antiporter, which catalyzes the reaction: Na+(out) + H+(in) = Na+(in) + H+(out) [goid 32415] [pmid 9560162] [evidence NAS]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12471024] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11285285] [evidence IPI]; Interacting selectively with a PDZ domain of a protein, a domain found in diverse signaling proteins [goid 30165] [pmid 16236806] [evidence IPI]; Interacting selectively with a beta-2 adrenergic receptor [goid 31698] [pmid 9560162] [evidence IPI]"	NHERF1; NHERF; EBP50	NHERF1; NHERF; EBP50
Chaperone	Protein metabolism and modification -> Protein folding;Apoptosis -> Inhibition of apoptosis	Homo sapiens	RefSeq	ILMN_28111	ILMN_28111	BAG5	NM_004873.2	NM_004873.2		9529	62548852	NM_004873.2	BAG5	NP_004864.1	ILMN_2361695	130669	A	4013	CAGGCATGGCTTTGTTTCTGGTTTCAATCTGTTCTCGTTCCTTGTACCGG	14	-	103093426-103093475	14q32.33a	"Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA."		"The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 9873016] [evidence TAS]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	BAG-5	BAG-5
		Homo sapiens	RefSeq	ILMN_5822	ILMN_307676	FUT2	NM_001097638.1	NM_001097638.1		2524	148224426	NM_001097638.1	FUT2	NP_001091107.1	ILMN_1794659	830082	S	2660	AAGTCCATAGGTCCTGCCTCTTCAATCCTGGCTTTCTAGGGCCTGGGATG	19	+	53900574-53900623	19q13.33a	"Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA."	"A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 11698403] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Located such that some or all of the gene product itself penetrates at least one phospholipid bilayer of the Golgi complex membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30173] [evidence NAS]"	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [pmid 7876235] [evidence TAS]; The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [pmid 11698403] [evidence TAS]; The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of L-fucose (6-deoxy-Lgalactose) [goid 42355] [pmid 11698403] [evidence NAS]"	"Catalysis of the reaction: GDP-L-fucose + beta-D-galactosyl-R = GDP + alpha-L-fucosyl-(1,2)-beta-D-galactosyl-R [goid 8107] [pmid 11698403] [evidence TAS]; Catalysis of the transfer of a fucosyl group to an acceptor molecule, typically another carbohydrate or a lipid [goid 8417] [pmid 7876235] [evidence TAS]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]"	SE; sej; Se2	sej; Se2; SE
Receptor;Extracellular matrix	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9889	ILMN_9889	LGI1	NM_005097.1	NM_005097.1		9211	4826815	NM_005097.1	LGI1	NP_005088.1	ILMN_2171023	4150068	S	2012	GAGACTGCTAGAACCAAGCACTACCAGTATCTCCATCCTTAACTGTCCAG	10	+	95547664-95547713	10q23.33b	"Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 9879993] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 9879993] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	EPT; IB1099; ETL1	EPT; IB1099; ETL1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23732	ILMN_169116	AFAP1L2	NM_001001936.1	NM_001001936.1		84632	50897849	NM_001001936.1	AFAP1L2	NP_001001936.1	ILMN_1730995	4590133	A	3699	GTGATCGCCCTCTTAAAATTGGCAGTGCTGTTCCTTGTGCTGCCCCTGTC	10	-	116044800-116044849	10q25.3a	"Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 17412687] [evidence IDA]"	"The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 17412687] [evidence IDA]; Any process that modulates the rate or extent of progress through the mitotic cell cycle [goid 7346] [pmid 17412687] [evidence IDA]; Any process that modulates the frequency, rate, or extent of interleukin-6 production [goid 32675] [pmid 17412687] [evidence IDA]; Any process that activates or increases the frequency, rate, or extent of interleukin-8 production [goid 32757] [pmid 17412687] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity [goid 45742] [pmid 17412687] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of DNA-dependent transcription [goid 45893] [pmid 17412687] [evidence IDA]"	"Interacting selectively with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins [goid 17124] [pmid 17412687] [evidence IPI]; Increases the activity of a protein tyrosine kinase, an enzyme which phosphorylates a tyrosyl phenolic group on a protein [goid 30296] [pmid 17412687] [evidence IDA]; Interacting selectively with a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class [goid 42169] [pmid 17412687] [evidence IPI]"	XB130; KIAA1914; FLJ14564	FLJ14564; XB130; KIAA1914
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_1271	ILMN_1271	DCTN1	NM_023019.1	NM_023019.1		1639	13259507	NM_023019.1	DCTN1	NP_075408.1	ILMN_2412807	2350315	A	3708	CCACCAAAGGTTAAGTGAGGTCCCCTTGATTGAGGACTTCACCCCTTGAT	2	-	74441811-74441860	2p13.1b	"Homo sapiens dynactin 1 (p150, glued homolog, Drosophila) (DCTN1), transcript variant 2, mRNA."	"Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules [goid 922] [pmid 14718566] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 1828535] [evidence TAS]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any of several large complexes that contain two or three dynein heavy chains and several light chains, and have microtubule motor activity [goid 30286] [evidence IEA]"	"Progression through mitosis, the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother [goid 7067] [pmid 1828535] [evidence NAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 17360970] [evidence NAS]"	"Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15107855] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9722614] [evidence IPI]"	P135; DAP-150; HMN7B; DP-150	P135; DAP-150; HMN7B; DP-150
Defense/immunity protein -> Complement component	Immunity and defense -> Complement-mediated immunity	Homo sapiens	RefSeq	ILMN_21736	ILMN_21736	C4BPB	NM_001017367.1	NM_001017367.1		725	62912467	NM_001017367.1	C4BPB	NP_001017367.1	ILMN_2347789	2600356	A	246	GGAAGGACAGATTCTGGGGACTTACGTTTGTATCAAGGGCTACCACCTGG	1	+	205330334-205330383	1q32.2a	"Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 5, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]	"Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; The sequential process by which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers [goid 7596] [pmid 8325877] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [evidence IEA]"		C4BP	C4BP
Transcription factor -> Transcription cofactor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_26626	ILMN_26626	SMYD5	NM_006062.2	NM_006062.2		10322	154689857	NM_006062.2	SMYD5	NP_006053.2	ILMN_1663827	4670437	S	2251	CTTCGAGAGTAGCCCTGTCTTGTCCCCTCCTACCCCCAGATTAGCACCAC	2	+	73307547-73307596	2p13.2a	"Homo sapiens SMYD family member 5 (SMYD5), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [pmid 8754834] [evidence ND ]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	RRG1; RAI15; ZMYND23; NN8-4AG	RRG1; NN8-4AG; RAI15; ZMYND23
Transcription factor -> Basal transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription initiation	Homo sapiens	RefSeq	ILMN_9713	ILMN_9713	GTF2H3	NM_001516.3	NM_001516.3		2967	28376643	NM_001516.3	GTF2H3	NP_001507.2	ILMN_1725666	1240736	S	1256	GGCTTTCTAACCTACTCCCTGAATCCGGGTCCTCATTGTGAAATGCATGC	12	+	122711038-122711087	12q24.31d-q24.31e	"Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA."	"A complex that contains kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. In S. cerevisiae, it is composed of the 5-subunit core (Rad3p, Tfb1p, Tfb2p, Ssl1p and Tfb4p), Ssl2p, and TFIIK (Kin28p, Ccl1p, and Tfb3p). All of the subunits have equivalents in humans: the 5 subunit core is composed of XPD, p62, p55, p44, p34; the equivalent of the TFIIK subcomplex is composed of MO15, Mat1, and a cyclin; the human equivalent of Ssl2p is XPB [goid 439] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12646563] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9790902] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9582279] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 8946909] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 1939271] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11313499] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10214908] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 12393749] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 2449431] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9512541] [evidence EXP]; A complex that contains kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. In S. cerevisiae, it is composed of the 5-subunit core (Rad3p, Tfb1p, Tfb2p, Ssl1p and Tfb4p), Ssl2p, and TFIIK (Kin28p, Ccl1p, and Tfb3p). All of the subunits have equivalents in humans: the 5 subunit core is composed of XPD, p62, p55, p44, p34; the equivalent of the TFIIK subcomplex is composed of MO15, Mat1, and a cyclin; the human equivalent of Ssl2p is XPB [goid 5675] [evidence NAS]"	"The removal of the oligonucleotide that contains the DNA damage. The oligonucleotide is formed by dual incisions that flank the site of DNA damage [goid 718] [pmid 10583946] [evidence EXP]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence NAS]; Any process involved in starting transcription from the RNA polymerase II promoter [goid 6367] [pmid 8946909] [evidence EXP]; The extension of an RNA molecule after transcription initiation at an RNA polymerase II-specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase II [goid 6368] [pmid 9405375] [evidence EXP]"	"Interacting selectively with damaged DNA [goid 3684] [evidence NAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence NAS]; Functions during translation by binding nucleic acids during polypeptide synthesis at the ribosome [goid 8135] [pmid 8194529] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Any function that supports basal (unregulated) transcription of genes by core RNA polymerase II. Five general transcription factors are necessary and sufficient for such basal transcription in yeast: TFIIB, TFIID, TFIIE, TFIIF, TFIIH and TATA-binding protein (TBF) [goid 16251] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 47485] [pmid 8652557] [evidence IPI]"	BTF2; TFIIH	BTF2; TFIIH
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_26551	ILMN_26432	ZNF167	NM_018651.2	NM_018651.2		55888	47716686	NM_018651.2	ZNF167	NP_061121.2	ILMN_1730696	5900577	A	1178	CCTGCAGTGGAACATGATGCCAGAAAATCACCATAGCATGGCCTCCTTGG	3	+	44584880-44584929	3p21.32b	"Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ12738; ZNF64; ZFP; ZNF448; ZKSCAN7	FLJ12738; ZNF64; ZFP; ZNF448; ZKSCAN7
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_26432	ILMN_26432	ZNF167	NM_018651.2	NM_018651.2		55888	47716686	NM_018651.2	ZNF167	NP_061121.2	ILMN_1761409	2480564	I	3050	GTCATTCAAAAAGGCTGATTCATGCCTTCCTGCCTCTTGGCTATGGCCCT	3	+	44588240-44588289	3p21.32b	"Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ12738; ZNF64; ZFP; ZNF448; ZKSCAN7	FLJ12738; ZNF64; ZFP; ZNF448; ZKSCAN7
Nucleic acid binding -> Ribosomal protein	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_21771	ILMN_21771	MRPL40	NM_003776.2	NM_003776.2		64976	26638658	NM_003776.2	MRPL40	NP_003767.2	ILMN_1687403	5090414	S	458	TGCTAGAAGCCCAGCAGGAAGCTCTGGAGGAACTGCAACTGGAATCCCCG	22	+	17803280-17803329	22q11.21c	"Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9790763] [evidence TAS]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes [goid 5761] [evidence ISS]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]"	The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 9790763] [evidence TAS]	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	NLVCF; URIM; MGC9400; FLJ41774; MRP-L22	NLVCF; URIM; MGC9400; FLJ41774; MRP-L22
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Sensory perception -> Vision;Developmental processes -> Gametogenesis -> Oogenesis;Cell cycle;Cell structure and motility	Homo sapiens	RefSeq	ILMN_175393	ILMN_175393	FSCN2	NM_001077182.1	NM_001077182.1		25794	116295250	NM_001077182.1	FSCN2	NP_001070650.1	ILMN_2364901	50097	A	1191	GCGCTACGTGTGCATGAAGAAGAATGGGCAGCTGGCGGCTATCAGCGATT	17	+	77113717-77113766	17q25.3f	"Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA."	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 10783262] [evidence TAS]	"The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 10783262] [evidence TAS]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 10783262] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]; The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness [goid 51017] [pmid 10783262] [evidence TAS]"	"Interacting selectively with two or more protein molecules, or a protein and another macromolecule or complex, simultaneously, thereby physically linking the bound proteins or complexes to each other [goid 30674] [evidence IEA]; Interacting selectively with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits [goid 51015] [evidence IEA]"	RFSN; RP30	RFSN; RP30
Transferase -> Glycosyltransferase	Protein metabolism and modification -> Protein modification -> Protein glycosylation	Homo sapiens	RefSeq	ILMN_7324	ILMN_7324	B3GNTL1	NM_001009905.1	NM_001009905.1		146712	57770467	NM_001009905.1	B3GNTL1	NP_001009905.1	ILMN_1702817	1570086	S	1138	AGCAGGAGCTTTGTGAGCTGCAGGCATGGCGATGGTGCGCCTGTTCCACA	17	-	78495151-78495200	17q25.3h	"Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA."			Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]	MGC126256; MGC126253; B3GNT8	MGC126253; MGC126256; B3GNT8
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23459	ILMN_23459	UNKL	NM_023076.3	NM_023076.3		64718	149408114	NM_023076.3	UNKL	NP_075564.3	ILMN_1692826	7570671	S	1883	TCTGTGCGCCTGCGCCTCGGAGAGCAAGTGAAGGAGCATCATGGGTTTTG	16	-	1355395-1355444	16p13.3e	"Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA."			"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]"	MGC5179; ZC3HDC5L; FLJ23360; FLJ12623; KIAA0734; ZC3H5L; C16orf28	MGC5179; ZC3HDC5L; FLJ12623; KIAA0734; ZC3H5L; C16orf28; FLJ23360
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_21409	ILMN_21409	PRSS22	NM_022119.3	NM_022119.3		64063	63079716	NM_022119.3	PRSS22	NP_071402.1	ILMN_1776925	510546	S	1113	TAAATAGGCTCATCTACCTCTACCTCTGGGGGCCCGGACGGCTGCTGCGG	16	-	2842952-2843001	16p13.3d	"Homo sapiens protease, serine, 22 (PRSS22), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	hBSSP-4; MGC9599; BSSP-4; SP001LA	hBSSP-4; MGC9599; BSSP-4; SP001LA
Receptor -> Other receptor;Defense/immunity protein -> Other defense and immunity protein	Immunity and defense -> T-cell mediated immunity;Immunity and defense -> B-cell- and antibody-mediated immunity;Immunity and defense -> Granulocyte-mediated immunity	Homo sapiens	RefSeq	ILMN_167129	ILMN_167129	CD69	NM_001781.1	NM_001781.1		969	4502680	NM_001781.1	CD69	NP_001772.1	ILMN_2188333	2710575	S	1301	TCCTCAGCTGTAGACAGGTCCTTTTCGATGGTACATATTTCTTTGCCTTT	12	-	9796674-9796723	12p13.31a	"Homo sapiens CD69 molecule (CD69), mRNA."	"The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8340758] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"		"Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 8340758] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with any mono-, di- or trisaccharide carbohydrate [goid 5529] [evidence IEA]"	CLEC2C	CLEC2C
Transferase -> Acyltransferase	Lipid, fatty acid and steroid metabolism -> Phospholipid metabolism	Homo sapiens	RefSeq	ILMN_26020	ILMN_26020	AGPAT1	NM_032741.3	NM_032741.3		10554	26787963	NM_032741.3	AGPAT1	NP_116130.2	ILMN_1779109	630437	I	1	GGACTTTGGAGCGTATGGCTCCAAATCAACTCATTGGCTAAAACTTGACG	6	-	32253770-32253819	6p21.32b	"Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 2, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 9461603] [evidence TAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 9461603] [evidence EXP]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids [goid 6654] [pmid 9461603] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 8654] [evidence IEA]"	"Catalysis of the reaction: acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate [goid 3841] [pmid 9461603] [evidence NAS]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: phospholipid + 1,2-diacylglycerol = lysophospholipid + triacylglycerol [goid 46027] [pmid 9461603] [evidence EXP]"	1-AGPAT1; G15; MGC5423; MGC4007; LPAAT-alpha; LPAATA	1-AGPAT1; G15; MGC5423; MGC4007; LPAAT-alpha; LPAATA
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1118	ILMN_1118	C20ORF197	NM_173644.1	NM_173644.1		284756	27735086	NM_173644.1	C20orf197	NP_775915.1	ILMN_1691228	1340176	S	1943	TGGGCTGGCTTCCAGTTTTATGTTTCCCAAATGGTGATTCAGCTGTTCCA	20	+	58080614-58080663	20q13.33a	"Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA."				MGC120496; FLJ33860; RP5-1017F8.1	MGC120496; FLJ33860; RP5-1017F8.1
Chaperone -> Other chaperones;Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Cell cycle -> Mitosis;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_23465	ILMN_171092	TBCD	NM_005993.4	NM_005993.4		6904	118572583	NM_005993.4	TBCD	NP_005984.3	ILMN_1673376	4010377	A	4165	ATGCTAGAGAACTGAGAAGCCCTGGTGGCAGGCATGGTCTGGAGTGCTGG	17	+	78494084-78494133	17q25.3h	"Homo sapiens tubulin folding cofactor D (TBCD), mRNA."	"Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [pmid 8706133] [evidence TAS]"	Folding of the microtubule constituent protein beta-tubulin [goid 7025] [pmid 8706133] [evidence TAS]	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport [goid 51087] [pmid 8706133] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	KIAA0988	KIAA0988
Chaperone -> Other chaperones;Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Cell cycle -> Mitosis;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_23465	ILMN_171092	TBCD	NM_005993.4	NM_005993.4		6904	118572583	NM_005993.4	TBCD	NP_005984.3	ILMN_1795400	5090543	I	3533	ACATTGCTCACCTACAGTGACGTCGTGGGCGCGGATGTGCTGGACGAGGT	17	+	78490565-78490614	17q25.3h	"Homo sapiens tubulin folding cofactor D (TBCD), mRNA."	"Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [pmid 8706133] [evidence TAS]"	Folding of the microtubule constituent protein beta-tubulin [goid 7025] [pmid 8706133] [evidence TAS]	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport [goid 51087] [pmid 8706133] [evidence TAS]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	KIAA0988	KIAA0988
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_13157	ILMN_13157	XKR9	NM_001011720.1	NM_001011720.1		389668	58743324	NM_001011720.1	XKR9	NP_001011720.1	ILMN_1733846	240433	S	2559	CCTTGTTGCCATGGTTTGAATGTGCCCCCCAGATTTCATGTGTGTGAAAC	8	+	71810116-71810165	8q13.3b	"Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			XRG9	XRG9
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_28317	ILMN_28317	PFN4	NM_199346.1	NM_199346.1		375189	40786417	NM_199346.1	PFN4	NP_955378.1	ILMN_1792383	1990440	S	480	GCAACTTACACTGAGGGCATGTATCCTAGCATCTGTGTGGAAGCCACAGA	2	-	24195958-24196007	2p23.3d	"Homo sapiens profilin family, member 4 (PFN4), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [evidence IEA]"	"A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures [goid 7010] [evidence IEA]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [evidence IEA]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]"
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_19452	ILMN_19452	RBCK1	NM_006462.3	NM_006462.3		10616	110224483	NM_006462.3	RBCK1	NP_006453.1	ILMN_2406313	5820753	A	2323	CCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGC				20p13f	"Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 16083853] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16083853] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	XAP4; RNF54; ZRANB4; RBCK2; UBCE7IP3; C20orf18	XAP4; RNF54; ZRANB4; RBCK2; UBCE7IP3; C20orf18
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Intracellular protein traffic	Homo sapiens	RefSeq	ILMN_7732	ILMN_7732	IQSEC3	NM_015232.1	NM_015232.1		440073	71143126	NM_015232.1	IQSEC3	NP_056047.1	ILMN_2282366	2900468	I	2624	ATCAATGCCTCCCCAGCCCGACTCACCATTTTACCAATTTCAAGAGATAC	12	+	150680-150729	12p13.33d	"Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of ARF protein signal transduction [goid 32012] [evidence IEA]; Any process that modulates the frequency, rate or extent of ARF protein signal transduction [goid 32012] [evidence IEA]; Any process that modulates the frequency, rate or extent of ARF protein signal transduction [goid 32012] [evidence IEA]"	"Stimulates the exchange of guanyl nucleotides by the GTPase ARF. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5086] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by the GTPase ARF. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5086] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by the GTPase ARF. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5086] [evidence IEA]"	KIAA1110; MGC30156	KIAA1110; MGC30156
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation	Homo sapiens	RefSeq	ILMN_22850	ILMN_22850	MKNK2	NM_017572.2	NM_017572.2		2872	40018630	NM_017572.2	MKNK2	NP_060042.2	ILMN_2347068	1300347	A	1453	GGTCAGAACCGTTACTGTGAATGAGTGAAGATCCTGGAGGACCCTGGGCC	19	-	1988715-1988737:1988738-1988764	19p13.3h	"Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 1, mRNA."		"Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA [goid 6417] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 11463832] [evidence IDA]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 8415712] [evidence TAS]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 11463832] [evidence IDA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [pmid 11463832] [evidence IDA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 11463832] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	GPRK7; MNK2	GPRK7; MNK2
Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_23312	ILMN_23312	HESX1	NM_003865.1	NM_003865.1		8820	4504366	NM_003865.1	HESX1	NP_003856.1	ILMN_1742929	7550242	S	530	CCCAGTGGGATTTCATTCCCTAGCGTGGTGGATCACCCAATGCCAGAAGA	3	-	57207932-57207981	3p14.3b	"Homo sapiens HESX homeobox 1 (HESX1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [pmid 9620767] [evidence TAS]"	"Interacting selectively with chromatin, the network of fibers of DNA and protein that make up the chromosomes of the eukaryotic nucleus during interphase [goid 3682] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	RPX; ANF; MGC138294	MGC138294; RPX; ANF
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_29237	ILMN_166093	LRRC14	NM_014665.1	NM_014665.1		9684	7661859	NM_014665.1	LRRC14	NP_055480.1	ILMN_1678998	2810687	S	5188	AACACAGGTTGGCAGGCCAGTCTCGGCAGTCGAGAGCCAGCCAATAGATG	8	+	145721230-145721279	8q24.3h	"Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA."		The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	KIAA0014	KIAA0014
Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism	Homo sapiens	RefSeq	ILMN_28079	ILMN_28079	THAP2	NM_031435.1	NM_031435.1		83591	13899258	NM_031435.1	THAP2	NP_113623.1	ILMN_2115553	6270328	S	4283	TCGGGCATTTACTGTGTGCCAACTTGCAAAAGGAATAGAAATGTCTGTGA	12	+	70360245-70360294	12q21.1a	"Homo sapiens THAP domain containing, apoptosis associated protein 2 (THAP2), mRNA."	"A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 11256614] [evidence IDA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	DKFZP564I0422	DKFZP564I0422
Nucleic acid binding -> Other RNA-binding protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4191	ILMN_4191	HNRPUL1	NM_144732.1	NM_144732.1		11100	21536319	NM_144732.1	HNRPUL1	NP_653333.1	ILMN_1690268	5890156	A	3247	TCCCACTGCCTCCTCTCCAGTGGTCTCCCAGGTGCCAGACCCAAAAGCTT	19	+	46505217-46505266	19q13.2c	"Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRPUL1), transcript variant 4, mRNA."	A macromolecular complex containing both protein and RNA molecules [goid 30529] [evidence IEA]		Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]	E1BAP5; FLJ12944; E1B-AP5	E1BAP5; FLJ12944; E1B-AP5
Nucleic acid binding -> Other RNA-binding protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_4191	ILMN_4191	HNRPUL1	NM_144732.1	NM_144732.1		11100	21536319	NM_144732.1	HNRPUL1	NP_653333.1	ILMN_2395728	1780681	A	2943	CAAGATAAGCATTTCTTTCCTGAGTTCAGGTGACTGAGGAAGAGCCACAA	19	+	46504913-46504962	19q13.2c	"Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRPUL1), transcript variant 4, mRNA."	A macromolecular complex containing both protein and RNA molecules [goid 30529] [evidence IEA]		Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]	E1BAP5; FLJ12944; E1B-AP5	E1BAP5; FLJ12944; E1B-AP5
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein;Select calcium binding protein -> Other select calcium binding proteins	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_137841	ILMN_46419	GSN	NM_198252.2	NM_198252.2		2934	89276752	NM_198252.2	GSN	NP_937895.1	ILMN_1801043	2370482	A	2013	CTGCCTACCGCACATCCCCACGGCTGAAGGACAAGAAGATGGATGCCCAT	9	+	123131020-123131069	9q33.2a	"Homo sapiens gelsolin (amyloidosis, Finnish type) (GSN), transcript variant 2, mRNA."	"A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3020431] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 3020431] [evidence IDA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [pmid 1321812] [evidence TAS]; A thin sheetlike process extended by the leading edge of a crawling fibroblast; contains a dense meshwork of actin filaments [goid 30027] [evidence IEA]"	"The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]; Assembly of actin filaments by the addition of actin monomers to a filament [goid 30041] [pmid 3020431] [evidence IDA]; The process by which an actin filament is broken down into smaller filaments [goid 51014] [pmid 3020431] [evidence IDA]; The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits [goid 51016] [pmid 1321812] [evidence TAS]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10793131] [evidence IPI]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 1321812] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17373842] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17620599] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12732734] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17620599] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]"	DKFZp313L0718	DKFZp313L0718
Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_138904	ILMN_457	HOXA13	NM_000522.3	NM_000522.3		3209	84452162	NM_000522.3	HOXA13	NP_000513.2	ILMN_1731349	3450189	S	1823	CCAACCAGCTGAACCTTTCAGGCTACAAGAGAACCCGGGTCGGTAATGTC				7p15.2a	"Homo sapiens homeobox A13 (HOXA13), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9020844] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	HOX1; HOX1J	HOX1J; HOX1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1301	ILMN_1301	BARD1	NM_000465.1	NM_000465.1		580	4557348	NM_000465.1	BARD1	NP_000456.1	ILMN_2074258	5080561	S	2300	TGTAATTATCACCCAGAGAGGGTTCGGCAGGGCAAAGTCTGGAAGGCTCC	2	-	215301702-215301751	2q35a	"Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA."	"A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 14976165] [evidence NAS]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15265711] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 15632137] [evidence IMP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15265711] [evidence IDA]; A heterodimeric complex comprising BRCA1 and BARD1, which possesses ubiquitin ligase activity and is involved in genome maintenance, possibly by functioning in surveillance for DNA damage [goid 31436] [pmid 15265711] [evidence IDA]"	"A homeostatic process involved in the maintenance of an internal equilibrium within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function [goid 1894] [pmid 15782130] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism [goid 6974] [pmid 15905410] [evidence NAS]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 15632137] [evidence NAS]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 15905410] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of mRNA 3'-end processing [goid 31441] [pmid 15905410] [evidence NAS]; Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule [goid 42325] [pmid 15782130] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of cell death by apoptosis [goid 43065] [pmid 15782130] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 15265711] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 45732] [pmid 15905410] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of the directed movement of proteins from the nucleus into the cytoplasm [goid 46826] [pmid 15265711] [evidence IDA]"	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 12419249] [evidence IDA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 15905410] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15782130] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 8944023] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15265711] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10026184] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10477523] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15184379] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a kinase, any enzyme that catalyzes the transfer of a phosphate group [goid 19900] [pmid 15782130] [evidence NAS]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 15265711] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 15265711] [evidence IPI]"
Nucleic acid binding -> Nuclease -> Endoribonuclease;Hydrolase	Nucleoside, nucleotide and nucleic acid metabolism -> RNA catabolism	Homo sapiens	RefSeq	ILMN_14572	ILMN_14572	RNASE9	NM_001001673.3	NM_001001673.3		390443	126723775	NM_001001673.3	RNASE9	NP_001001673.2	ILMN_1655474	270523	S	621	TGATCTCGTGGAGCCACCTGAACACAGAAGTTTCCTCAGTGAGGATGGTG	14	-	20094470-20094519	14q11.2b	"Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 7, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]		"Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Catalysis of the endonucleolytic cleavage of RNA to 3'-phosphomononucleotides and 3'-phosphooligonucleotides ending in C-P or U-P with 2',3'-cyclic phosphate intermediates [goid 4522] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Catalysis of the endonucleolytic cleavage of RNA to 3'-phosphomononucleotides and 3'-phosphooligonucleotides ending in C-P or U-P with 2',3'-cyclic phosphate intermediates [goid 4522] [evidence IEA]"	h461	h461
		Homo sapiens	RefSeq	ILMN_181109	ILMN_181109	PLA2G4E	NM_001080490.1	NM_001080490.1		123745	122937427	NM_001080490.1	PLA2G4E	NP_001073959.1	ILMN_2370862	5050224	A	2195	ATCTCAAGGAATGCTACCTGATGGAGAACCCCCAGGAACCCGATGCCCCC	15	-	40063980-40064029	15q15.1d	"Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm [goid 5765] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester [goid 9395] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]"	"Catalysis of the reaction: phosphatidylcholine + H2O = 1-acylglycerophosphocholine + a carboxylate [goid 4623] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FLJ45651; MGC126661; MGC126633	FLJ45651; MGC126661; MGC126633
Transferase -> Methyltransferase	Protein metabolism and modification -> Protein modification	Homo sapiens	RefSeq	ILMN_4945	ILMN_4945	PCMTD2	NM_018257.1	NM_018257.1		55251	8922738	NM_018257.1	PCMTD2	NP_060727.1	ILMN_1767848	730673	S	2610	CAGCTTCTTGGGAGTTGCTGGGCTTCAGTGTCTCTGTGGTTTCACCAGCT	20	+	62376794-62376843	20q13.33e	"Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]"	Catalysis of the reaction: S-adenosyl-L-methionine + protein L-beta-aspartate = S-adenosyl-L-homocysteine + protein L-beta-aspartate methyl ester [goid 4719] [evidence IEA]	C20orf36; FLJ10883	FLJ10883; C20orf36
Receptor -> Nuclear hormone receptor;Transcription factor -> Nuclear hormone receptor;Nucleic acid binding	Lipid, fatty acid and steroid metabolism -> Regulation of lipid, fatty acid and steroid metabolism;Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Coenzyme and prosthetic group metabolism -> Vitamin metabolism;Signal transduction	Homo sapiens	RefSeq	ILMN_14831	ILMN_162235	RXRB	NM_021976.3	NM_021976.3		6257	27436942	NM_021976.3	RXRB	NP_068811.1	ILMN_1774074	6380431	S	2774	TGCTGGGGCTGCATGATTTTTGCCCTGCGTCCCTTCTCTTTGGGGCTCCT	6	-	33269394-33269443	6p21.32a	"Homo sapiens retinoid X receptor, beta (RXRB), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7990953] [evidence IDA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 1662118] [evidence NAS];  [goid 3706] [pmid 7990953] [evidence IDA]; Combining with a steroid hormone to initiate a change in cell activity [goid 3707] [evidence IEA]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 1662118] [evidence TAS];  [goid 4886] [pmid 1662118] [evidence TAS]; Interacting selectively with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene [goid 5496] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	NR2B2; MGC1831; RCoR-1; H-2RIIBP; DAUDI6	H-2RIIBP; NR2B2; MGC1831; RCoR-1; DAUDI6
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Immunity and defense -> Stress response	Homo sapiens	RefSeq	ILMN_13858	ILMN_13858	HSFY2	NM_153716.1	NM_153716.1		159119	32526912	NM_153716.1	HSFY2	NP_714927.1	ILMN_2401946	240273	A	261	TCAGGTTTTGTCACAAGGATCCTTGTTAGAAAGTCCAAGTTACACAGTTT	Y	-	19394699-19394748	Yq11.222a	"Homo sapiens heat shock transcription factor, Y linked 2 (HSFY2), transcript variant 1, mRNA."				HSF2L; HSFY; FLJ25453	HSF2L; HSFY; FLJ25453
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Immunity and defense -> Stress response	Homo sapiens	RefSeq	ILMN_13858	ILMN_13858	HSFY2	NM_153716.1	NM_153716.1		159119	32526912	NM_153716.1	HSFY2	NP_714927.1	ILMN_2291538	1300152	I	1114	AATGGTTATTTTGGGCTGACAGTGGAACCATCTGCTGTTCCCACACGATA	Y	-	19393368-19393417	Yq11.222a	"Homo sapiens heat shock transcription factor, Y linked 2 (HSFY2), transcript variant 1, mRNA."				HSF2L; HSFY; FLJ25453	HSF2L; HSFY; FLJ25453
Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25683	ILMN_25683	SYNC1	NM_030786.1	NM_030786.1		81493	13540560	NM_030786.1	SYNC1	NP_110413.1	ILMN_1771261	5220452	S	1728	TGGACAACAACTGTCATCTGAAGGACTCTTCTAGAAGCCAGAGACTGGTG	1	-	32918884-32918933	1p35.1b	"Homo sapiens syncoilin, intermediate filament 1 (SYNC1), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]"	"Any cellular process that depends upon or alters the intermediate filament cytoskeleton, that part of the cytoskeleton comprising intermediate filaments and their associated proteins [goid 45103] [evidence IEA]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	SYNC; MGC149626; SYNCOILIN; MGC149625	SYNC; MGC149626; SYNCOILIN; MGC149625
Transcription factor -> Homeobox transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Segment specification;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_16941	ILMN_16941	HOXA6	NM_024014.2	NM_024014.2		3203	24797131	NM_024014.2	HOXA6	NP_076919.1	ILMN_1815570	610563	S	752	CCCTTGCCCTCGCCTGTTCCCCAACTTTTCTCCCCGCCTGCTCCCATCTG	7	-	27151702-27151751	7p15.2a	"Homo sapiens homeobox A6 (HOXA6), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	HOX1B; HOX1.2; HOX1	HOX1B; HOX1.2; HOX1
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_22886	ILMN_22886	RNF130	NM_018434.4	NM_018434.4		55819	38176162	NM_018434.4	RNF130	NP_060904.2	ILMN_1729294	1510722	S	1503	CCTCAGGATGGGGAGCTCACTCCGAGAACAGGAGAAATCAACATTGCAGT	5	-	179326416-179326465	5q35.3e	"Homo sapiens ring finger protein 130 (RNF130), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	G1RZFP; MGC138647; GP; GOLIATH; MGC99542; MGC117241	G1RZFP; MGC138647; GOLIATH; MGC99542; MGC117241; GP
Cytoskeletal protein -> Other cytoskeletal proteins;Extracellular matrix -> Other extracellular matrix	Cell proliferation and differentiation;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_8745	ILMN_165324	IVL	NM_005547.2	NM_005547.2		3713	44890058	NM_005547.2	IVL	NP_005538.2	ILMN_1775883	4120646	S	1939	AATGGGGTGAGGGTGGGGGAGAGAGGGAATTATTGTCCAGTGCCAACCCC	1	+	151150790-151150839	1q21.3c	"Homo sapiens involucrin (IVL), mRNA."	"An insoluble protein structure formed under the plasma membrane of cornifying epithelial cells [goid 1533] [pmid 10908733] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16639001] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 42494] [evidence IDA]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-B radiation stimulus. UV-B radiation (UV-B light) spans the wavelengths 290 to 320 nm [goid 10224] [pmid 16639001] [evidence IDA]; The formation of a covalent cross-link between or within protein chains [goid 18149] [pmid 10908733] [evidence IDA]; The formation of an isopeptide cross-link between peptidyl-lysine and peptidyl-glutamine to produce N6-(L-isoglutamyl)-L-lysine [goid 18153] [pmid 1601889] [evidence TAS]; The process whereby a relatively unspecialized cell acquires specialized features of a keratinocyte [goid 30216] [pmid 10908733] [evidence IDA]; The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns [goid 31424] [evidence IEA]"	"The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 10908733] [evidence IDA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 42494] [evidence IDA]; Interacting selectively with two or more protein molecules, or a protein and another macromolecule or complex, simultaneously, thereby physically linking the bound proteins or complexes to each other [goid 30674] [pmid 10908733] [evidence IDA]"
Hydrolase -> Lipase	Lipid, fatty acid and steroid metabolism -> Lipid metabolism;Coenzyme and prosthetic group metabolism -> Vitamin metabolism	Homo sapiens	RefSeq	ILMN_26946	ILMN_26946	CEL	NM_001807.3	NM_001807.3		1056	148536847	NM_001807.3	CEL	NP_001798.2	ILMN_1723418	6650593	S	2250	CCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAGCGTCCCATGAGC	9	+	134936935-134936972:134936973-134936984	9q34.2a	"Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 7350913] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 7350912] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2318975] [evidence EXP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence ISS]"	"The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6707] [evidence ISS]; The regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine. Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach [goid 30157] [evidence ISS]; The chemical reactions and pathways resulting in the breakdown of ceramides, any N-acetylated sphingoid [goid 46514] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6707] [evidence ISS]; The regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine. Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach [goid 30157] [evidence ISS]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [pmid 2265692] [evidence IC ]; The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6707] [pmid 7578248] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones [goid 6707] [pmid 12031288] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes [goid 9062] [pmid 7578248] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 16042] [evidence IEA]; The addition of an ester group to a protein amino acid [goid 18350] [pmid 7578248] [evidence NAS]; The regulated release of pancreatic juice by the exocrine pancreas into the upper part of the intestine. Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach [goid 30157] [pmid 1854805] [evidence IDA]; Uptake of cholesterol into the blood by absorption from the small intestine [goid 30299] [pmid 12031288] [evidence NAS]; The chemical reactions and pathways resulting in the breakdown into fatty acids and monoglycerides of lipids in the small intestine. Lipids are broken down by lipases released by the pancreas [goid 44258] [pmid 7578248] [evidence NAS]"	"Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: a steryl ester + H2O = a sterol + a fatty acid [goid 4771] [pmid 12031288] [evidence NAS]; Catalysis of the reaction: a steryl ester + H2O = a sterol + a fatty acid [goid 4771] [pmid 7350913] [evidence EXP]; Catalysis of the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion [goid 4806] [pmid 2265692] [evidence NAS]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [pmid 7578248] [evidence NAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [pmid 2265692] [evidence TAS]; Catalysis of the reaction: H2O + acylglycerol = a fatty acid + glycerol [goid 47372] [pmid 7350912] [evidence EXP]; Catalysis of the reaction: H2O + acylglycerol = a fatty acid + glycerol [goid 47372] [pmid 2318975] [evidence EXP]"	FAP; CELL; BSDL; CEase; BSSL; MODY8; LIPA; BAL; FAPP	BSDL; BSSL; MODY8; LIPA; BAL; FAP; CELL; CEase; FAPP
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24102	ILMN_24102	HISPPD2A	NM_014659.3	NM_014659.3		9677	66932991	NM_014659.3	HISPPD2A	NP_055474.3	ILMN_2278686	5340592	I	3410	ATGCCCAGGCACAGGCATCTGCAGCCCTCTTTGATTCCATGCACAGCAGC	15	-	41619047-41619073:41638285-41638307	15q15.3a	"Homo sapiens histidine acid phosphatase domain containing 2A (HISPPD2A), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 17702752] [evidence IDA]"	"The chemical reactions and pathways involving inositol, 1,2,3,4,5,6-cyclohexanehexol, a growth factor for animals and microorganisms [goid 6020] [pmid 17412958] [evidence IDA]"	"Catalysis of the reaction: ATP + 1D-myo-inositol 1,3,4,5,6-pentakisphosphate = ADP + diphospho-1D-myo-inositol tetrakisphosphate (isomeric configuration unknown) [goid 827] [pmid 17412958] [evidence IDA]; Catalysis of the reaction: ATP + 1D-myo-inositol hexakisphosphate = ADP + 5-diphospho-1D-myo-inositol (1,2,3,4,6)pentakisphosphate [goid 832] [pmid 17412958] [evidence IDA]; Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an acid pH optimum [goid 3993] [evidence IEA]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + 5-diphospho-1D-myo-inositol pentakisphosphate = ADP + bis(diphospho)-1D-myo-inositol tetrakisphosphate (isomeric configuration unknown) [goid 33857] [pmid 17412958] [evidence IDA]; Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an acid pH optimum [goid 3993] [evidence IEA]"	DKFZp313L0221; MGC51871; IP6K; KIAA0377; VIP1; PPIP5K1; IPS1	DKFZp313L0221; MGC51871; KIAA0377; VIP1; IPS1; IP6K; PPIP5K1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_138222	ILMN_28244	DMAP1	NM_001034023.1	NM_001034023.1		55929	78000210	NM_001034023.1	DMAP1	NP_001029195.1	ILMN_1773885	5490646	S	1382	CGGCAGTGACTGAACCCGGACTTGGTCCTGACCCCAAGGACACCATCATT	1	+	44458486-44458535	1p34.1e	"Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10888872] [evidence NAS]; The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes [goid 5657] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes [goid 5657] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of cell growth [goid 1558] [evidence IEA]; The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine [goid 6306] [pmid 10888872] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 10888872] [evidence NAS]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA-dependent transcription [goid 45892] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA-dependent transcription [goid 45892] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [evidence IEA]"	"Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15033475] [evidence IPI]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [pmid 10888872] [evidence NAS]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the transfer of a methyl group to an acceptor molecule [goid 8168] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	FLJ11543; KIAA1425; DNMTAP1; DKFZp686L09142; SWC4; DNMAP1; EAF2	FLJ11543; KIAA1425; DNMTAP1; DKFZp686L09142; SWC4; DNMAP1; EAF2
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_138096	ILMN_32548	FSD1L	NM_207647.2	NM_207647.2		83856	89886467	NM_207647.2	FSD1L	NP_997530.2	ILMN_1679678	770646	S	161	GGGCTTAGCCACTCGCCATGGACTCCCAGAAAGAAGCTCTACAGAGGATC				9q31.2a	"Homo sapiens fibronectin type III and SPRY domain containing 1-like (FSD1L), transcript variant 1, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	MIR1; MGC45564; FSD1NL; FSD1CL; CSDUFD1; CCDC10	MIR1; MGC45564; FSD1NL; FSD1CL; CSDUFD1; CCDC10
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16523	ILMN_16523	CCDC114	NM_144577.1	NM_144577.1		93233	21389346	NM_144577.1	CCDC114	NP_653178.1	ILMN_1658376	7210482	S	1648	GTGTCTGTCCGTCTTGTCTCCATATCTGCCCCTTCCCTGTCTGCTGAGCC	19	-	53491741-53491790	19q13.32c	"Homo sapiens coiled-coil domain containing 114 (CCDC114), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ32926	FLJ32926
Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Mesoderm development -> Heart development	Homo sapiens	RefSeq	ILMN_15190	ILMN_15190	ZFPM1	NM_153813.2	NM_153813.2		161882	110556643	NM_153813.2	ZFPM1	NP_722520.2	ILMN_1651438	7320494	S	2948	ACCACCGGTACTGCCGTCTTTGCAACATCAAGTTCAGCAGCCTGTCCACC	16	+	87128782-87128831	16q24.2b	"Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 7507] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FOG; FOG1; ZNF408; ZNF89A	FOG; FOG1; ZNF408; ZNF89A
Transporter;Transfer/carrier protein -> Apolipoprotein	Lipid, fatty acid and steroid metabolism -> Lipid and fatty acid transport;Transport -> Lipid and fatty acid transport	Homo sapiens	RefSeq	ILMN_14208	ILMN_14208	MTTP	NM_000253.2	NM_000253.2		4547	153285407	NM_000253.2	MTTP	NP_000244.2	ILMN_1774742	3520746	S	3319	GCTCTTGATAGGACTTCCTTAAGCATGACGGGAAAACCAAACACGTTCCC	4	+	100763406-100763455	4q23b	"Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]"	"The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The covalent or non-covalent attachment of lipid moieties to an amino acid in a protein [goid 6497] [evidence IEA]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 1439810] [evidence TAS]; The chemical reactions and pathways involving triacylglycerol, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triacylglycerols are important components of plant oils, animal fats and animal plasma lipoproteins [goid 6641] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]"	"Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with a lipid [goid 8289] [evidence IEA]"	MGC149819; MTP; MGC149820; ABL	MGC149819; MTP; MGC149820; ABL
Transferase -> Nucleotidyltransferase	Amino acid metabolism -> Other amino acid metabolism	Homo sapiens	RefSeq	ILMN_25630	ILMN_25630	MAT2A	NM_005911.4	NM_005911.4		4144	46852159	NM_005911.4	MAT2A	NP_005902.1	ILMN_1737298	7150176	S	2619	TGGTGCGGCTGGCCATGGAGAAAGCTGACTTGGCTGGTGTGGTACAGAGA	2	+	85625714-85625763	2p11.2f	"Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA."		"The chemical reactions and pathways resulting in the formation of S-adenosylmethionine, S-(5'-adenosyl)-L-methionine, an important intermediate in one-carbon metabolism [goid 6556] [evidence IEA]; The chemical reactions and pathways involving compounds containing a single carbon atom [goid 6730] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + L-methionine + H2O = phosphate + diphosphate + S-adenosyl-L-methionine [goid 4478] [pmid 7665609] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with a cobalt (Co) ion [goid 50897] [evidence IEA]"	MATII; SAMS2; MATA2	MATII; SAMS2; MATA2
Transferase -> Transaminase	Amino acid metabolism;Nitrogen metabolism -> Other nitrogen metabolism	Homo sapiens	RefSeq	ILMN_5354	ILMN_5354	GPT2	NM_133443.1	NM_133443.1		84706	19263339	NM_133443.1	GPT2	NP_597700.1	ILMN_1684158	5290148	S	3853	CCTGTGGCTGTTTTCCCGTCTAGGTTCTCACAGGTATCTCCTGACAGAGG	16	+	45522597-45522646	16q11.2i-q12.1a	"Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), mRNA."		The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]	"Catalysis of the reaction: L-alanine + 2-oxoglutarate = pyruvate + L-glutamate [goid 4021] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine = 1-aminocyclopropane-1-carboxylate + methylthioadenosine [goid 16847] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]"	ALT2	ALT2
Nucleic acid binding -> Ribonucleoprotein	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_11057	ILMN_11057	RBM4	NM_002896.2	NM_002896.2		5936	93277121	NM_002896.2	RBM4	NP_002887.2	ILMN_1709042	840544	A	341	TGTGGGCAACATCAGTCCCACCTGCACCAATAAGGAGCTTCGAGCCAAGT	11	+	66164001-66164050	11q13.1e	"Homo sapiens RNA binding motif protein 4 (RBM4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]; An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines [goid 16068] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9169144] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ZCRB3A; ZCCHC21; RBM4A; LARK; MGC75138; DKFZp547K0918	ZCRB3A; ZCCHC21; RBM4A; LARK; MGC75138; DKFZp547K0918
Nucleic acid binding -> Ribonucleoprotein	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_139319	ILMN_11057	RBM4	NM_002896.2	NM_002896.2		5936	93277121	NM_002896.2	RBM4	NP_002887.2	ILMN_1712455	520243	A	458	GGCAGAGGATGCAGTGGAGGCCATCAGGGGCCTTGATAACACAGAGTTTC	11	+	66164118-66164167	11q13.1e	"Homo sapiens RNA binding motif protein 4 (RBM4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]; An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines [goid 16068] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9169144] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ZCRB3A; ZCCHC21; RBM4A; LARK; MGC75138; DKFZp547K0918	ZCRB3A; ZCCHC21; RBM4A; LARK; MGC75138; DKFZp547K0918
Nucleic acid binding -> Other RNA-binding protein	Protein metabolism and modification -> Translational regulation	Homo sapiens	RefSeq	ILMN_3687	ILMN_3687	SLBP	NM_006527.2	NM_006527.2		7884	19913344	NM_006527.2	SLBP	NP_006518.1	ILMN_2055700	4280603	S	1499	GCACTAGTTAGACTCTTTAGAATACTCCAAGAGTTAGGGCAGCAGAGTGG	4	-	1664501-1664550	4p16.3b	"Homo sapiens stem-loop binding protein (SLBP), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9049306] [evidence EXP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A macromolecular complex containing both protein and RNA molecules [goid 30529] [pmid 10825184] [evidence TAS]"	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; Any process involved in forming the mature 3' end of a histone mRNA molecule [goid 6398] [pmid 9049306] [evidence TAS]	Interacting selectively with pre-messenger RNA (pre-mRNA) or messenger RNA (mRNA) [goid 3729] [pmid 9049306] [evidence TAS]	HBP	HBP
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Signal transduction -> Intracellular signaling cascade -> JNK cascade;Neuronal activities -> Synaptic transmission;Apoptosis -> Induction of apoptosis;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_9428	ILMN_12717	MADD	NM_130473.1	NM_130473.1		8567	18860867	NM_130473.1	MADD	NP_569829.1	ILMN_1743583	6650575	A	5775	CACGGGGTGTCAGGAGGGAGAGACAGCCTGGGTATGGGCAAGAAATGACT	11	+	47308034-47308083	11p11.2b	"Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 5, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8988362] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8988362] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8988362] [evidence IDA]"	The initiation of the activity of the inactive enzyme MAP kinase by phosphorylation by a MAPKK [goid 187] [pmid 9115275] [evidence IMP]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 9115275] [evidence TAS]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 14735464] [evidence IMP]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 11577081] [evidence IMP]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 9115275] [evidence IMP]; Any process that modulates the rate or extent of progression through the cell cycle [goid 51726] [pmid 14735464] [evidence IMP]	"Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with a death receptor [goid 5123] [pmid 9115275] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9115275] [evidence IPI]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rab family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 17112] [pmid 9115275] [evidence IMP]; Increases the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 30295] [pmid 9115275] [evidence TAS]"	KIAA0358; RAB3GEP; IG20; DENN	IG20; DENN; KIAA0358; RAB3GEP
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Signal transduction -> Intracellular signaling cascade -> JNK cascade;Neuronal activities -> Synaptic transmission;Apoptosis -> Induction of apoptosis;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_12717	ILMN_12717	MADD	NM_130473.1	NM_130473.1		8567	18860867	NM_130473.1	MADD	NP_569829.1	ILMN_2328224	4830484	A	5378	TTCTCTGTGACCCGGCATGACTGGGCGCCTGGAGCAGTTTCACTCTGTGA	11	+	47307637-47307686	11p11.2b	"Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 5, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8988362] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8988362] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8988362] [evidence IDA]"	The initiation of the activity of the inactive enzyme MAP kinase by phosphorylation by a MAPKK [goid 187] [pmid 9115275] [evidence IMP]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 9115275] [evidence TAS]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 14735464] [evidence IMP]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 11577081] [evidence IMP]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 9115275] [evidence IMP]; Any process that modulates the rate or extent of progression through the cell cycle [goid 51726] [pmid 14735464] [evidence IMP]	"Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with a death receptor [goid 5123] [pmid 9115275] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9115275] [evidence IPI]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rab family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 17112] [pmid 9115275] [evidence IMP]; Increases the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 30295] [pmid 9115275] [evidence TAS]"	KIAA0358; RAB3GEP; IG20; DENN	IG20; DENN; KIAA0358; RAB3GEP
Cytoskeletal protein -> Actin family cytoskeletal protein -> Other actin family cytoskeletal protein	Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_24602	ILMN_24602	ARPC4	NM_005718.3	NM_005718.3		10093	68161505	NM_005718.3	ARPC4	NP_005709.1	ILMN_1803183	2230068	I	298	AAGGTGACAAGAAGGCCGAAGGCACAAAGGGAAGCTGCACCCATTCCTGG	3	+	9809524-9809573	3p25.3c	"Homo sapiens actin related protein 2/3 complex, subunit 4, 20kDa (ARPC4), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A stable protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5), and functions in the nucleation of branched actin filaments [goid 5885] [pmid 9230079] [evidence TAS]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]"	"Assembly of actin filaments by the addition of actin monomers to a filament [goid 30041] [evidence IEA]; The initial step in the formation of an actin filament, in which actin monomers combine to form a new filament. Nucleation is slow relative to the subsequent addition of more monomers to extend the filament [goid 45010] [pmid 11162547] [evidence TAS]"	"The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 9230079] [evidence TAS]; Interacting selectively with two or more protein molecules, or a protein and another macromolecule or complex, simultaneously, thereby physically linking the bound proteins or complexes to each other [goid 30674] [pmid 11162547] [evidence TAS]; Interacting selectively with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits [goid 51015] [pmid 11162547] [evidence TAS]"	ARC20; p20-Arc; MGC13544	ARC20; p20-Arc; MGC13544
Receptor -> Protein kinase receptor -> Serine/threonine protein kinase receptor;Kinase -> Protein kinase -> Serine/threonine protein kinase receptor;Defense/immunity protein -> Antibacterial response protein;Defense/immunity protein -> Other defense and immunity protein	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein serine/threonine kinase signaling pathway;Immunity and defense -> Other immune and defense;Non-vertebrate process	Homo sapiens	RefSeq	ILMN_2824	ILMN_2824	GSG2	NM_031965.2	NM_031965.2		83903	56790918	NM_031965.2	GSG2	NP_114171.2	ILMN_1709085	2900692	S	2448	GCCCCGAAATGAGAGGAGACTGGTCTTGAAGCCTCTGGTGCTGTTTCAAC	17	+	3576393-3576442	17p13.3a	"Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11228240] [evidence IDA]"	"The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 11228240] [evidence IDA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [evidence IEA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 11228240] [evidence IDA]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate [goid 4713] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 11228240] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"
Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_4972	ILMN_4972	HERC1	NM_003922.3	NM_003922.3		8925	126131098	NM_003922.3	HERC1	NP_003913.3	ILMN_1786211	1820274	S	14719	CGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCT	15	-	61688298-61688332:61688333-61688347	15q22.31a	"Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 8861955] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 8861955] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]"	"Stimulates the exchange of guanyl nucleotides by the GTPase ARF. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5086] [pmid 8861955] [evidence TAS]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA]"	p619; p532	p619; p532
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11144	ILMN_11144	CCDC109B	NM_017918.3	NM_017918.3		55013	34147587	NM_017918.3	CCDC109B	NP_060388.1	ILMN_1801766	1780259	S	999	GACCTTGCTAAGGCTAAAGAATCCCTGAAACAGGCGCGTCATTCTCTCTG	4	+	110825961-110825972:110828120-110828157	4q25c	"Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ20647	FLJ20647
Receptor -> Other receptor	Developmental processes -> Gametogenesis -> Oogenesis	Homo sapiens	RefSeq	ILMN_14444	ILMN_14444	VLDLR	NM_001018056.1	NM_001018056.1		7436	65301163	NM_001018056.1	VLDLR	NP_001018066.1	ILMN_2361862	5390661	A	2960	GAGGTCTAAACAAATAATACCCCCGTCGGAATGGTAACCGAGCCAGCAGC	9	+	2643893-2643942	9p24.2b	"Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 15082773] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10380922] [evidence TAS]; An invagination of the cell membrane of many eukaryotic cells, concerned in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane. During endocytosis it is converted into a coated vesicle. The coat is of clathrin [goid 5905] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [evidence IEA]; The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10380922] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 10380922] [evidence TAS]; The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task) [goid 7613] [pmid 7550352] [evidence TAS]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with a low-density lipoprotein to initiate a change in cell activity [goid 5041] [pmid 10380922] [evidence TAS]; Enables the directed movement of lipids into, out of, within or between cells [goid 5319] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]"	FLJ35024; VLDLRCH	FLJ35024; VLDLRCH
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_11823	ILMN_11823	ZNF271	NM_006629.3	NM_006629.3		10778	24586660	NM_006629.3	ZNF271	NP_006620.2	ILMN_1706990	3180189	S	1764	ACCAGAAAACCCATGCTGAGGAGAAACCCTACCAGTGTGTTCAGTGCAGC	18	+	31141645-31141694	18q12.2a	"Homo sapiens zinc finger protein 271 (ZNF271), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	HZF7; ZNFEB	HZF7; ZNFEB
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_18912	ILMN_18912	NEDD4L	NM_015277.3	NM_015277.3		23327	141801823	NM_015277.3	NEDD4L	NP_056092.2	ILMN_1733627	1570273	S	4518	CCCTGCTGTCCTTTTTAACCTGTGTTGTCCTAGACCCTGTCGGGGCAGTC	18	+	54216018-54216067	18q21.31b	"Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 11244092] [evidence IC ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [pmid 11244092] [evidence NAS]; The regulation of the levels, transport, and metabolism of sodium ions within a cell or between a cell and its external environment [goid 6883] [pmid 11244092] [evidence NAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 11244092] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metal ion stimulus [goid 10038] [pmid 11244092] [evidence IDA]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 11244092] [evidence NAS]; Any process involved in the maintenance of an internal equilibrium of water within an organism or cell [goid 30104] [pmid 11244092] [evidence NAS]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds [goid 42176] [pmid 11244092] [evidence NAS]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of endocytosis [goid 45807] [pmid 11244092] [evidence NAS]"	"Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 11244092] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11244092] [evidence IPI]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond with concomitant breakage of a diphosphate linkage, usually in a nucleoside triphosphate [goid 16881] [evidence IEA];  [goid 17080] [pmid 11244092] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	FLJ33870; KIAA0439; RSP5; hNedd4-2	FLJ33870; KIAA0439; RSP5; hNedd4-2
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes;Cell cycle -> Cell cycle control;Oncogenesis -> Tumor suppressor	Homo sapiens	RefSeq	ILMN_4636	ILMN_4636	RB1	NM_000321.2	NM_000321.2		5925	108773786	NM_000321.2	RB1	NP_000312.2	ILMN_1696591	6280474	S	3249	TGGCCCTAGAGTGGGAGTCCTGATAACCCAGGCCTGTCTGACTACTTTGC	13	+	47952504-47952553	13q14.2b	"Homo sapiens retinoblastoma 1 (RB1), mRNA."	"The ordered and organized complex of DNA and protein that forms the chromosome [goid 785] [pmid 3657987] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 3657987] [evidence TAS]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 9190208] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 14527418] [evidence EXP]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 11931757] [evidence EXP]; Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence IEA]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [evidence IEA]; A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection [goid 16605] [pmid 9448006] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 3413073] [evidence NAS]"	"A point in the eukaryotic cell cycle where progress through the cycle can be halted until conditions are suitable for the cell to proceed to the next stage [goid 75] [pmid 10825186] [evidence TAS]; Progression from G1 phase to S phase of the mitotic cell cycle [goid 82] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 122] [pmid 9491888] [evidence TAS]; Progression through M phase, the part of the cell cycle comprising nuclear division [goid 279] [pmid 7542657] [evidence NAS]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of protein kinase activity [goid 6469] [pmid 9858607] [evidence IPI]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [evidence IEA]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 7542657] [evidence TAS]; Any series of molecular signals generated as a consequence of an androgen binding to its receptor [goid 30521] [pmid 15572661] [evidence NAS]; The process by which a myeloid precursor cell acquires specializes features of an erythrocyte without a nucleus, as found in mammals [goid 43353] [evidence IEA]; Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid [goid 43550] [pmid 16286473] [evidence IDA]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of macrophage differentiation [goid 45651] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [evidence IEA]; The process whereby a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle [goid 51146] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; Progression through G1 phase, one of two 'gap' phases in the cell cycle; G1 is the interval between the completion of DNA segregation (usually by mitosis or meiosis) and the beginning of DNA synthesis [goid 51318] [pmid 7542657] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 3413073] [evidence NAS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 3657987] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 15572661] [evidence NAS]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [evidence IEA]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [evidence IEA]; Interacting selectively with a kinase, any enzyme that catalyzes the transfer of a phosphate group [goid 19900] [pmid 16286473] [evidence IDA]; Interacting selectively with an androgen receptor [goid 50681] [pmid 15572661] [evidence NAS]; Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [pmid 3413073] [evidence ND ]"	RB; OSRC	RB; OSRC
		Homo sapiens	RefSeq	ILMN_12799	ILMN_12799	LINS1	NM_181739.1	NM_181739.1		55180	32454730	NM_181739.1	LINS1	NP_859523.1	ILMN_1669624	5890220	A	321	TCCAGGGCAGGCATCAGCCCATCTCTGTTGGTGTGGCTCCCATTGCTGTA	15	-	98938357-98938406	15q26.3c	"Homo sapiens lines homolog 1 (Drosophila) (LINS1), transcript variant 2, mRNA."				FLJ10583; WINS1	FLJ10583; WINS1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_21200	ILMN_21200	EGFLAM	NM_152403.2	NM_152403.2		133584	33469928	NM_152403.2	EGFLAM	NP_689616.2	ILMN_1711346	7380092	I	796	GTGGCCCTGTCTTGGAAACCTGGAGCGAGTGAAGGAAGCGCCCCTATTCA	5	+	38388117-38388166	5p13.2a-p13.1c	"Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 1, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]			AGRINL; AGRNL; FLJ39155	AGRINL; AGRNL; FLJ39155
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18193	ILMN_18193	FAM81B	NM_152548.1	NM_152548.1		153643	22749142	NM_152548.1	FAM81B	NP_689761.1	ILMN_1759679	3840671	S	1210	GGAACAAATGGAAAAGCAGATCTGGGGTGAATTAGAGACAATGCAGAATG	5	+	94809863-94809912	5q15c	"Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA."				FLJ25333	FLJ25333
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_21965	ILMN_21965	CSAG3A	NM_203311.1	NM_203311.1		389903	42600568	NM_203311.1	CSAG3A	NP_976056.1	ILMN_2043126	4010095	S	166	GCCACGAATAAGGCCATCACCAGAAGCCAACCCCGCCAGTCCTTGATCTA	X	-	151628620-151628669	Xq28e	"Homo sapiens CSAG family, member 3A (CSAG3A), mRNA."				MGC17065	MGC17065
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Immunity and defense -> Cytokine/chemokine mediated immunity;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_14583	ILMN_14583	CXCR6	NM_006564.1	NM_006564.1		10663	5730105	NM_006564.1	CXCR6	NP_006555.1	ILMN_1674640	6550333	S	1553	TGCTGGCACCACCAGGCACCTCACAGAAATGAGATCAGGCTCTGCCTCAC	3	+	45964449-45964498	3p21.31i	"Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9166430] [evidence TAS]	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9166430] [evidence TAS]; Any process involved directly in viral genome replication, including viral nucleotide metabolism [goid 19079] [pmid 9230441] [evidence TAS]"	"Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity [goid 15026] [pmid 9166430] [evidence TAS]; Combining with a C-C chemokine to initiate a change in cell activity. C-C chemokines do not have an amino acid between the first two cysteines of the characteristic four-cysteine motif [goid 16493] [evidence IEA]; Combining with a C-X-C chemokine to initiate a change in cell activity. A C-X-C chemokine has a single amino acid between the first two cysteines of the characteristic four cysteine motif [goid 16494] [evidence IEA]"	BONZO; TYMSTR; CD186; STRL33	TYMSTR; STRL33; BONZO; CD186
Transcription factor -> Zinc finger transcription factor;Nucleic acid binding -> Nuclease	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_20317	ILMN_20317	ZNF385C	NM_001013624.1	NM_001013624.1		201181	61966704	NM_001013624.1	ZNF385C	NP_001013646.1	ILMN_1770400	520121	S	1679	AGCTTTCCCTTCTCCCAACCAGCCCCTGCCACTGTGAAGCTGAGTGTTGG	17	-	37431380-37431429	17q21.2b	"Homo sapiens zinc finger protein 385C (ZNF385C), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"		Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
Oxidoreductase -> Dehydrogenase;Oxidoreductase -> Reductase	Other metabolism	Homo sapiens	RefSeq	ILMN_15505	ILMN_15505	CBR4	NM_032783.3	NM_032783.3		84869	55775472	NM_032783.3	CBR4	NP_116172.2	ILMN_1813400	5810750	S	3030	CTGTAGCTGTTTGCTGACTCCTATGAGCCCATAAGGGTTCTGTGCTTAGC	4	-	170145692-170145741	4q32.3e	"Homo sapiens carbonyl reductase 4 (CBR4), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]	"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]"	FLJ14431	FLJ14431
Molecular function unclassified	Oncogenesis -> Tumor suppressor	Homo sapiens	RefSeq	ILMN_46290	ILMN_46290	DLEC1	NM_007337.2	NM_007337.2		9940	90669227	NM_007337.2	DLEC1	NP_031363.2	ILMN_2401987	7200035	A	5300	CCCCCTTCCACAATGGTCTCAGCCTAGGCCCTCATGATATGTCCTCAGAG	3	+	38139042-38139091	3p22.2a	"Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10213508] [evidence IDA]"	"Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10213508] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	DLC1; F56	DLC1; F56
Select regulatory molecule -> G-protein -> Small GTPase	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Cell structure and motility	Homo sapiens	RefSeq	ILMN_8976	ILMN_8976	RRAD	NM_004165.1	NM_004165.1		6236	4759053	NM_004165.1	RRAD	NP_004156.1	ILMN_2186137	5570520	S	1162	GCCAGCCGGGCACCCCCAACCTCATGGTCATGGACAGATAGACAGTGCTG	16	-	65513318-65513367	16q22.1a	"Homo sapiens Ras-related associated with diabetes (RRAD), mRNA."		Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [pmid 8248782] [evidence TAS]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 8248782] [evidence TAS]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	REM3; RAD; RAD1	REM3; RAD; RAD1
Hydrolase	Sensory perception -> Vision;Developmental processes	Homo sapiens	RefSeq	ILMN_17045	ILMN_17045	EYA1	NM_000503.3	NM_000503.3		2138	26667213	NM_000503.3	EYA1	NP_000494.2	ILMN_1747207	1260605	I	471	TGAGAGCCCCCGCGCGTACCCATCCAGGAGCAAAACTATGTCAGGAATGG	8	-	72436501-72436550	8q13.3b-q13.3c	"Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure [goid 1657] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence IEA]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [pmid 9020840] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process by which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form [goid 9653] [pmid 9020840] [evidence TAS]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The process by which the anatomical structures of the inner ear are generated and organized. Morphogenesis pertains to the creation of form. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively [goid 42472] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [evidence IEA]; The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field [goid 45165] [evidence IEA]; Any process that modulates the frequency, rate or extent of neuron differentiation [goid 45664] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure [goid 1657] [evidence IEA]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]; Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate [goid 7389] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [evidence IEA]; The process by which the anatomical structures of the inner ear are generated and organized. Morphogenesis pertains to the creation of form. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively [goid 42472] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [evidence IEA]; The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field [goid 45165] [evidence IEA]; Any process that modulates the frequency, rate or extent of neuron differentiation [goid 45664] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]"	MGC141875; BOR; BOP	BOP; MGC141875; BOR
Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism	Homo sapiens	RefSeq	ILMN_15272	ILMN_15272	THAP1	NM_199003.1	NM_199003.1		55145	40068499	NM_199003.1	THAP1	NP_945354.1	ILMN_2301955	4180279	A	1570	TTGTATCATATGATAATCTTGCACTTGACTGAGTTGGGACAAGGCTTCAC	8	-	42811325-42811374	8p11.21a	"Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]	FLJ10477; MGC33014	FLJ10477; MGC33014
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2132	ILMN_29139	LARP4	NM_199188.1	NM_199188.1		113251	40353739	NM_199188.1	LARP4	NP_954658.1	ILMN_1675365	2650504	A	6239	CCTTTGCATCTCTTAAATGTTGGGGGTGGGGGTCAGAGCCAGTTATCCGG	12	+	49159816-49159865	12q13.13a	"Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 2, mRNA."			Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	MGC74631; DKFZp686E039; PP13296	MGC74631; DKFZp686E039; PP13296
Molecular function unclassified	Signal transduction -> Cell communication -> Ligand-mediated signaling	Homo sapiens	RefSeq	ILMN_163945	ILMN_163945	KIR2DS1	NM_014512.1	NM_014512.1		3806	7657276	NM_014512.1	KIR2DS1	NP_055327.1	ILMN_2166812	5670291	S	610	CGGCTCTTTCCGTGACTCTCCATACGAGTGGTCAAAGTCAAGTGACCCAC	19|NT_113949.1	+	120645-120694		"Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8627176] [evidence NAS]"	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 8627176] [evidence NAS]	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 8627176] [evidence NAS]"	EB6ActII; p50.1; CD158a; EB6ActI; CD158H	EB6ActII; p50.1; CD158a; EB6ActI; CD158H
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16996	ILMN_16996	GTF3C6	NM_138408.2	NM_138408.2		112495	50355976	NM_138408.2	GTF3C6	NP_612417.1	ILMN_2074880	580386	S	830	TGGAAACTCAAATGCTGCCTTAGAAATCACTCTCCTAGATGAAATGTTTC	6	+	111395664-111395686:111395687-111395713	6q21h	"Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA."	"A transcription factor complex that is involved in regulating transcription from RNA polymerase III (Pol III) promoters. TFIIIC contains three conserved subunits that associate with the proximal Pol III promoter element, and additional subunits that associate with sequence elements downstream of the promoter and are more diverged among species [goid 127] [pmid 17409385] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of RNA on a template of DNA [goid 6351] [pmid 17409385] [evidence IDA]; The synthesis of 5S ribosomal RNA (rRNA), or an equivalent rRNA, from a DNA template [goid 42791] [pmid 17409385] [evidence IC ]; The synthesis of transfer RNA (tRNA) from a DNA template by RNA Polymerase III (Pol III), originating at a Pol III promoter [goid 42797] [pmid 17409385] [evidence IC ]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 17409385] [evidence IDA]; Functions to initiate or regulate RNA polymerase III transcription [goid 3709] [pmid 17409385] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17409385] [evidence IPI]	C6orf51; TFIIIC35; bA397G5.3	C6orf51; TFIIIC35; bA397G5.3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3096	ILMN_3096	ARHGEF16	NM_014448.2	NM_014448.2		27237	15011976	NM_014448.2	ARHGEF16	NP_055263.1	ILMN_1669928	1030753	S	2112	GCCGGAGGGAGGGGACCCGGCAGGGAGATTTCGGTTTTGAGGTTTCTAAA	1	+	3387466-3387515	1p36.32b	"Homo sapiens Rho guanine exchange factor (GEF) 16 (ARHGEF16), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]; Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]; Any process that modulates the frequency, rate or extent of Rho protein signal transduction [goid 35023] [evidence IEA]"	"Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Stimulates the exchange of guanyl nucleotides by a GTPase of the Rho family. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5089] [evidence IEA]"	NBR; GEF16	GEF16; NBR
Transcription factor -> Zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_23948	ILMN_23948	ZRANB2	NM_005455.3	NM_005455.3		9406	42741681	NM_005455.3	ZRANB2	NP_005446.2	ILMN_1703015	3850228	A	2610	TTGTGCCTCAGACTTTTTGAAAGTCTACCTTCTAAATTGCCCCGACGATC	1	-	71301820-71301869	1p31.1j	"Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9931435] [evidence TAS]"	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [pmid 9931435] [evidence TAS]	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9931435] [evidence TAS]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9931435] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17620599] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	DKFZp686J1831; ZIS1; FLJ41119; ZIS; DKFZp686N09117; ZNF265; ZIS2	DKFZp686J1831; DKFZp686N09117; ZIS2; ZIS1; FLJ41119; ZIS; ZNF265
Transcription factor -> Zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_23948	ILMN_23948	ZRANB2	NM_005455.3	NM_005455.3		9406	42741681	NM_005455.3	ZRANB2	NP_005446.2	ILMN_1662383	2100139	I	1019	AAACAACCCTGAGCCCAGGGCCAACCCCTACGGAACACCACTACTTTACC	1	-	71303951-71303989:71303990-71304000	1p31.1j	"Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9931435] [evidence TAS]"	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [pmid 9931435] [evidence TAS]	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9931435] [evidence TAS]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9931435] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17620599] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	DKFZp686J1831; ZIS1; FLJ41119; ZIS; DKFZp686N09117; ZNF265; ZIS2	DKFZp686J1831; DKFZp686N09117; ZIS2; ZIS1; FLJ41119; ZIS; ZNF265
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14816	ILMN_15407	TEX11	NM_001003811.1	NM_001003811.1		56159	51477720	NM_001003811.1	TEX11	NP_001003811.1	ILMN_1691076	2370112	A	2955	TGAACATGGCTACTGGAGCAAGTCAGATTAGGCAAGCTCATGGCCACATG	X	-	69665650-69665669:69665670-69665699	Xq13.1c	"Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"		"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16189514] [evidence IPI]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	TGC1; TSGA3	TGC1; TSGA3
Receptor;Extracellular matrix	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway	Homo sapiens	RefSeq	ILMN_12380	ILMN_12380	SLITRK2	NM_032539.2	NM_032539.2		84631	40217818	NM_032539.2	SLITRK2	NP_115928.1	ILMN_1795170	150482	S	4922	ACTAAGGGGATTTAACAGTGGACTAGAGGTAATAAGCCACCTCAGTCAGG	X	+	144714965-144715014	Xq27.3c	"Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"Generation of a long process of a neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells [goid 7409] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	MGC129913; SLITL1; DKFZp451E1911; CXorf2; MGC129912; KIAA1854	MGC129913; SLITL1; DKFZp451E1911; CXorf2; MGC129912; KIAA1854
Transcription factor -> Homeobox transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_24691	ILMN_24691	PKNOX2	NM_022062.2	NM_022062.2		63876	116812643	NM_022062.2	PKNOX2	NP_071345.2	ILMN_1807689	870575	S	3252	CCACCTGGTTGGGGTAGAGCAAAAGGATGGTCACTCTTCCGAGGTCTCCC	11	+	124808017-124808066	11q24.2b	"Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [evidence IEA]; The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins [goid 15630] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with monomeric actin, also known as G-actin [goid 3785] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; Interacting selectively with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits [goid 51015] [evidence IEA]"	FLJ13074; PREP2	FLJ13074; PREP2
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Signal transduction -> Intracellular signaling cascade	Homo sapiens	RefSeq	ILMN_1030	ILMN_1030	RICS	NM_014715.2	NM_014715.2		9743	29469070	NM_014715.2	RICS	NP_055530.2	ILMN_1722726	1340288	S	5919	GTAGGCGTCTGCATTCCCTGTTGTGTTCCTGCTTCTCCTTCAGTAGCTGC	11	-	128343563-128343612	11q24.3a-q24.3b	"Homo sapiens Rho GTPase-activating protein (RICS), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; The lipid bilayer surrounding an endosome [goid 10008] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; A prolongation or process extending from a cell, e.g. a flagellum or axon [goid 42995] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any inositol-containing glycerophospholipid [goid 35091] [evidence IEA]"	KIAA0712; MGC1892; p250GAP; GRIT; p200RhoGAP; GC-GAP	KIAA0712; MGC1892; GRIT; GC-GAP; p250GAP; p200RhoGAP
Membrane traffic protein -> SNARE protein	Intracellular protein traffic -> Exocytosis	Homo sapiens	RefSeq	ILMN_2913	ILMN_2913	SEC22B	NM_004892.4	NM_004892.4		9554	94429049	NM_004892.4	SEC22B	NP_004883.2	ILMN_1784238	2600500	S	1591	ATAGGATATGGAGAGGCCCCTGGCTTCATGAGAACAAAGGCAGGCCCAGG	1	+	143828049-143828098	1q21.1b	"Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (SEC22B), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The lipid bilayer surrounding any of the compartments of the ER-Golgi intermediate compartment system [goid 33116] [evidence IEA]; A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells [goid 42470] [evidence IEA]"	"The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi [goid 6888] [pmid 9094723] [evidence TAS]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15272311] [evidence IPI]	SEC22L1; ERS-24	SEC22L1; ERS-24
Cell adhesion molecule;Extracellular matrix -> Extracellular matrix glycoprotein	Cell adhesion	Homo sapiens	RefSeq	ILMN_15161	ILMN_15161	GPC1	NM_002081.1	NM_002081.1		2817	4504080	NM_002081.1	GPC1	NP_002072.1	ILMN_1801516	7160504	S	3379	GGATCAGGAGCCCCCAACACAGGCAAGTCCACCCCATAATAACCCTGCCA	2	+	241055861-241055910	2q37.3e	"Homo sapiens glypican 1 (GPC1), mRNA."	"A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 2148568] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2148568] [evidence TAS]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"			glypican; FLJ38078	glypican; FLJ38078
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Apoptosis;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_38764	ILMN_38764	MAP2	NM_002374.3	NM_002374.3		4133	87578395	NM_002374.3	MAP2	NP_002365.3	ILMN_2388484	1770564	A	5675	TCAGCTTGCCACTTTGGCTGAGGATGTCACTGCTGCACTCGCTAAGCAGG	2	+	210303309-210303358	2q34a-q34b	"Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines [goid 43198] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 9588626] [evidence TAS]"	"A process that results in a parallel arrangement of microtubules [goid 1578] [evidence IEA]; The process whose specific outcome is the progression of the dendrite over time, from its formation to the mature structure. A dendrite is a freely branching protoplasmic process of a nerve cell [goid 16358] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]"	"The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 9588626] [evidence NAS]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]"	MAP2B; MAP2C; DKFZp686I2148; MAP2A	MAP2B; MAP2C; DKFZp686I2148; MAP2A
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Non-motor microtubule binding protein	Apoptosis;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_38764	ILMN_38764	MAP2	NM_002374.3	NM_002374.3		4133	87578395	NM_002374.3	MAP2	NP_002365.3	ILMN_2283915	6900133	I	4137	ACCACAACTGATGAAGGGGAGTCAGGGTCCCACAGCGTGCGTTTTGCAGC	2	+	210269028-210269077	2q34a-q34b	"Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines [goid 43198] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any multimeric complex connected to a microtubule [goid 5875] [pmid 9588626] [evidence TAS]"	"A process that results in a parallel arrangement of microtubules [goid 1578] [evidence IEA]; The process whose specific outcome is the progression of the dendrite over time, from its formation to the mature structure. A dendrite is a freely branching protoplasmic process of a nerve cell [goid 16358] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol [goid 7026] [evidence IEA]"	"The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [pmid 9588626] [evidence NAS]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]"	MAP2B; MAP2C; DKFZp686I2148; MAP2A	MAP2B; MAP2C; DKFZp686I2148; MAP2A
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_169432	ILMN_169432	OR5K4	NM_001005517.1	NM_001005517.1		403278	53933286	NM_001005517.1	OR5K4	NP_001005517.1	ILMN_2161166	4570270	S	689	CCAAGGAGGGAAGAGGTAAAGCATTTTCTACCTGTGCATCCCACTTTCTC	3	+	99556076-99556125	3q11.2c	"Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]
Transcription factor -> Basic helix-loop-helix transcription factor	Lipid, fatty acid and steroid metabolism -> Regulation of lipid, fatty acid and steroid metabolism;Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_21143	ILMN_21143	SREBF1	NM_004176.3	NM_004176.3		6720	52630417	NM_004176.3	SREBF1	NP_004167.3	ILMN_2328986	6840044	A	3598	TCATGCGCCTGGGCGGTGGGACCACTGTCACTTCCAGCTAGACCCCGTGT	17	-	17656651-17656660:17656661-17656700	17p11.2g	"Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8156598] [evidence TAS]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [pmid 8156598] [evidence TAS]; The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [pmid 8156598] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter [goid 6357] [pmid 8156598] [evidence TAS]; The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids [goid 6629] [pmid 8156598] [evidence TAS]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [evidence IEA]; A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment [goid 9267] [pmid 16407292] [evidence ISS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 16407292] [evidence IDA]; Functions to initiate or regulate RNA polymerase II transcription [goid 3702] [pmid 8156598] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16799563] [evidence IPI]; Interacting selectively with the sterol response element (SRE), a nonpalindromic sequence found in the promoters of genes involved in lipid metabolism [goid 32810] [pmid 16407292] [evidence IDA]"	SREBP1	SREBP1
Signaling molecule	Signal transduction -> Cell communication -> Ligand-mediated signaling;Neuronal activities -> Other neuronal activity	Homo sapiens	RefSeq	ILMN_17963	ILMN_43784	NXPH4	XM_938935.2	XM_938935.2		11247	113423785	XM_938935.2	NXPH4	XP_944028.1	ILMN_1741214	1510382	A	1589	CTCCCACCATTCTGCCTGCCATATGCCTGTCCCCTTTTCCTCCAAACCCT				12q13.3b	"PREDICTED: Homo sapiens neurexophilin 4 (NXPH4), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence NAS]	The series of molecular signals generated as a consequence of a peptide neurotransmitter binding to a cell surface receptor [goid 7218] [pmid 9570794] [evidence NAS]	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [pmid 9570794] [evidence ND ]"
Oxidoreductase -> Dehydrogenase	Carbohydrate metabolism -> Other carbohydrate metabolism	Homo sapiens	RefSeq	ILMN_17062	ILMN_17062	HAO1	NM_017545.2	NM_017545.2		54363	11184232	NM_017545.2	HAO1	NP_060015.1	ILMN_2211546	1740131	S	1580	CACAACTTTGAGAAGGTAGCACTGGAGAGAATTGGAATGGGTGGCGGTAA	20	-	7811747-7811796	20p12.3a	"Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA."	"A small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2) [goid 5777] [pmid 10777549] [evidence TAS]"	"Pathway by which 3-methyl branched fatty acids are degraded. These compounds are not degraded by the normal peroxisomal beta-oxidation pathway, because the 3-methyl blocks the dehydrogenation of the hydroxyl group by hydroxyacyl-CoA dehydrogenase. The 3-methyl branched fatty acid is converted in several steps to pristenic acid, which can then feed into the beta-oxidative pathway [goid 1561] [pmid 10777549] [evidence TAS]; The reactions of the C2 pathway bring about the metabolic conversion of two molecules of 2-phosphoglycolate to one molecule of 3-phosphoglycerate, which can be used by the C3 cycle, and one molecule of carbon dioxide (CO2) [goid 9854] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Catalysis of the reaction: (S)-2-hydroxy-acid + O2 = 2-oxo acid + H2O2 [goid 3973] [pmid 10777549] [evidence TAS]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with FMN, flavin mononucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes [goid 10181] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]"	HAOX1; GOX; MGC142225; GOX1; MGC142227	HAOX1; GOX1; GOX; MGC142225; MGC142227
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_28904	ILMN_28904	C1ORF35	NM_024319.2	NM_024319.2		79169	34147378	NM_024319.2	C1orf35	NP_077295.1	ILMN_1790202	5820500	S	992	TCCTGTGGAAGTGGCTCTGGGCACCAGCCTGTGGGGCTAAAGACTTGACA	1	-	226355299-226355348	1q42.13c	"Homo sapiens chromosome 1 open reading frame 35 (C1orf35), mRNA."				MMTAG2; MGC4174	MMTAG2; MGC4174
Nucleic acid binding -> Helicase -> RNA helicase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_165366	ILMN_165366	DDX51	NM_175066.2	NM_175066.2		317781	37059776	NM_175066.2	DDX51	NP_778236.1	ILMN_2215382	4390661	S	2701	GGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGATAGAGACCATCATT	12	-	131189032-131189081	12q24.33c	"Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules [goid 6364] [evidence IEA]	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the unwinding of a DNA or RNA helix [goid 8026] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the unwinding of a DNA or RNA helix [goid 8026] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	DKFZp686N2081; MGC42193	DKFZp686N2081; MGC42193
Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_15067	ILMN_15067	IFLTD1	NM_152590.1	NM_152590.1		160492	22749214	NM_152590.1	IFLTD1	NP_689803.1	ILMN_1725833	3290437	S	1385	CTCAAATCCCTGAGGCCTGCTCTGCAACCTCCCTGCTATTCCATGAGAGG	12	-	25520566-25520615	12p12.1a	"Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), mRNA."	"A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]"		The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]	Pas1c1; FLJ36004	Pas1c1; FLJ36004
Protease -> Cysteine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_5191	ILMN_5191	UCHL3	NM_006002.3	NM_006002.3		7347	37059734	NM_006002.3	UCHL3	NP_005993.1	ILMN_1660111	7160180	S	457	GCCATCCGAGTTACTCATGAGACCAGTGCCCATGAAGGTCAGACTGAGGC	13	+	75041597-75041644:75067052-75067053	13q22.2a	"Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence NAS]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence NAS]"	"Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [pmid 2530630] [evidence TAS]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 8234] [evidence IEA]"	UCH-L3	UCH-L3
Receptor -> Cytokine receptor -> Interleukin receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Signal transduction -> Intracellular signaling cascade -> MAPKKK cascade;Signal transduction -> Intracellular signaling cascade -> JAK-STAT cascade;Signal transduction -> Cell communication -> Ligand-mediated signaling;Immunity and defense -> B-cell- and antibody-mediated immunity;Immunity and defense -> Cytokine/chemokine mediated immunity;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_1894	ILMN_17920	IL5RA	NM_000564.2	NM_000564.2		3568	28559020	NM_000564.2	IL5RA	NP_000555.2	ILMN_1756455	830519	A	1521	CTAAGTACGATGTTCAAGTGAGAGCAGCAGTGAGCTCCATGTGCAGAGAG	3	-	3108948-3108997	3p26.3a	"Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 1495999] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 1495999] [evidence TAS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 1732409] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 1732409] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4896] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4896] [evidence IEA]; Combining with interleukin-5 to initiate a change in cell activity [goid 4914] [pmid 1495999] [evidence TAS]	IL5R; MGC26560; HSIL5R3; CDw125	IL5R; MGC26560; HSIL5R3; CDw125
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_900	ILMN_168565	C5ORF20	NM_130848.2	NM_130848.2		140947	116734715	NM_130848.2	C5orf20	NP_570900.1	ILMN_1701911	2000162	S	2937	CATTGCAGCCGTTCACCGGACACCGCACCAGACCCTCAAAACCCATCCAA	5	-	134807951-134808000	5q31.1f	"Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA."				DCNP1	DCNP1
Miscellaneous function -> Other miscellaneous function protein	Immunity and defense -> Other immune and defense;Miscellaneous	Homo sapiens	RefSeq	ILMN_4610	ILMN_4610	LRRC10	NM_201550.2	NM_201550.2		376132	63003902	NM_201550.2	LRRC10	NP_963844.2	ILMN_1754558	6180376	S	2051	ACAGGCATGAGCCACCACACCCAGCCTTCAGCTGTCACCTTAAACTTGAC	12	-	68289109-68289158	12q15c	"Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	MGC125812; HRLRRP	MGC125812; HRLRRP
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_137754	ILMN_16799	NCKAP1L	NM_005337.4	NM_005337.4		3071	153792638	NM_005337.4	NCKAP1L	NP_005328.2	ILMN_1674250	7650538	S	3618	CAATCCAGGGCTGAGAAATCGTAGAGCAGTGAGGCAGGCTGGGAGCATGG	12	+	53222891-53222940	12q13.2a	"Homo sapiens NCK-associated protein 1-like (NCKAP1L), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 1932118] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1932118] [evidence TAS]"			HEM1	HEM1
Cell junction protein -> Gap junction	Signal transduction	Homo sapiens	RefSeq	ILMN_22502	ILMN_176444	GJA3	NM_021954.3	NM_021954.3		2700	115392136	NM_021954.3	GJA3	NP_068773.2	ILMN_1731516	5490619	S	963	TTGCCATCGGGTTCCCACCCTACTATGCGCACACCGCTGCGCCCCTGGGA	13	-	19614587-19614636	13q12.11a	"Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; An assembly of six molecules of connexin, made in the Golgi apparatus and subsequently transported to the plasma membrane, where docking of two connexons on apposed plasma membranes across the extracellular space forms a gap junction [goid 5922] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [pmid 9413992] [evidence NAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 9413992] [evidence TAS]; The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image [goid 7601] [pmid 10205266] [evidence TAS]"		CZP3; CX46	CZP3; CX46
Transporter -> Other transporter;Hydrolase -> Other hydrolase	Transport -> Ion transport -> Cation transport;Homeostasis -> Calcium ion homeostasis	Homo sapiens	RefSeq	ILMN_11255	ILMN_11255	ATP8A2	NM_016529.4	NM_016529.4		51761	117168244	NM_016529.4	ATP8A2	NP_057613.4	ILMN_1693896	4590577	S	4459	GCCAACCCAAACCCGCGCCTTTCCTTGTTCCACTGCAGACTCAGATACAG	13	+	25492873-25492922	13q12.13a-q12.13b	"Homo sapiens ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 (ATP8A2), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 10551800] [evidence TAS]; The directed movement of phospholipids into, out of, within or between cells. Phospholipids are any lipids containing phosphoric acid as a mono- or diester [goid 15914] [evidence IEA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the movement of phospholipids from one membrane face to the other ('flippase' activity), driven by the hydrolysis of ATP [goid 4012] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of an acid anhydride to directly drive the transport of a substance across a membrane [goid 16820] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of ions across a membrane. The reaction is characterized by the transient formation of a high-energy aspartyl-phosphoryl-enzyme intermediate [goid 15662] [evidence IEA]"	ATP; DKFZP434B1913; ML-1; IB; ATPIB	ATP; DKFZP434B1913; ML-1; IB; ATPIB
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_139327	ILMN_35004	FAM78B	NM_001017961.2	NM_001017961.2		149297	90968571	NM_001017961.2	FAM78B	NP_001017961.1	ILMN_1749960	7000674	S	1434	GCCAGGGGTGGCAGGAGCCAAACAGAGTTTCTGAGCCAAAGCAGACCTCT	1	-	164305994-164306043	1q24.1a-q24.1b	"Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA."				MGC131653	MGC131653
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17069	ILMN_17069	C6ORF25	NM_138277.1	NM_138277.1		80739	19913384	NM_138277.1	C6orf25	NP_612121.1	ILMN_1709799	2940433	I	645	GGGCATGGGGATGGGAAGGGGATAGCCAGAATCTCTGAGGAAAATGGACC	6	+	31800605-31800629:31800630-31800654	6p21.33a	"Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 7, mRNA."				MGC142279; NG31; MGC142281; G6b	NG31; MGC142281; G6b; MGC142279
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_18911	ILMN_18911	SSTR3	NM_001051.2	NM_001051.2		6753	44890055	NM_001051.2	SSTR3	NP_001042.1	ILMN_1774749	3610670	S	1867	CATGATGGGATGTTGAGGGGCCTGGACTTTGATGCTATTGCTGCCAGGTC	22	-	35932397-35932446	22q13.1a	"Homo sapiens somatostatin receptor 3 (SSTR3), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 1337145] [evidence TAS]; An immotile primary cilium that may be missing the central pair of microtubules, or the central pair of microtubules and outer dynein arms. Some primary cilia also have altered arrangements of outer microtubules (fewer than nine and/or not always present as doublets). Nonmotile primary cilia typically function as sensory organelles that concentrate and organize sensory signaling molecules [goid 31513] [evidence ISS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand, followed by modulation of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide [goid 7187] [pmid 8405411] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 1337145] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 8961277] [evidence TAS]; Any process induced by hormones that directly activates any of the steps required for cell death by apoptosis [goid 8628] [pmid 8961277] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with somatostatin to initiate a change in cell activity [goid 4994] [pmid 8405411] [evidence TAS]
Transporter -> Cation transporter	Transport -> Ion transport -> Cation transport;Homeostasis -> Other homeostasis activities	Homo sapiens	RefSeq	ILMN_23204	ILMN_6058	CUTA	NM_001014838.1	NM_001014838.1		51596	62526023	NM_001014838.1	CUTA	NP_001014838.1	ILMN_1712390	1030427	A	839	AACAGGGGAACTTTCCGTACCTGCAGTGGGTGCGCCAGGTCACAGAGTCA	6	-	33492434-33492483	6p21.32a	"Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 4, mRNA."				MGC111154; ACHAP; C6orf82	MGC111154; C6orf82; ACHAP
Receptor -> Cytokine receptor -> Interleukin receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway	Homo sapiens	RefSeq	ILMN_15199	ILMN_15199	IL22RA2	NM_052962.2	NM_052962.2		116379	31317244	NM_052962.2	IL22RA2	NP_443194.1	ILMN_1805385	6550068	I	542	GGATGCTGGCAGCACATTTCTTGTAACTTCCCAGGCTGCAGAACATTGGC	6	-	137519591-137519640	6q23.3c	"Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 11390453] [evidence NAS]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 11390454] [evidence NAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of introducing a phosphate group to a tyrosine residue of a Stat3 protein [goid 42516] [evidence ISS]; Any process that modulates the frequency, rate or extent of introducing a phosphate group to a tyrosine residue of a Stat3 protein [goid 42516] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with interleukin-22 to initiate a change in cell activity [goid 42018] [pmid 11390454] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	CRF2-S1; MGC150509; IL-22BP; MGC150510; CRF2X; CRF2-10	CRF2-S1; MGC150509; IL-22BP; MGC150510; CRF2X; CRF2-10
Receptor;Extracellular matrix	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Developmental processes	Homo sapiens	RefSeq	ILMN_21430	ILMN_21430	C20ORF75	NM_152611.2	NM_152611.2		164312	34303942	NM_152611.2	C20orf75	NP_689824.1	ILMN_1764885	4810398	S	2531	TCCCGTGAAGCCAGAATGCCTTGAGCACACATGGAACTTGCCACACTGAG	20	-	5969516-5969565	20p12.3c	"Homo sapiens chromosome 20 open reading frame 75 (C20orf75), mRNA."				dJ1056H1.1; FLJ23994; MGC25027; NLRR4	dJ1056H1.1; MGC25027; NLRR4; FLJ23994
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25350	ILMN_25350	INO80B	NM_031288.2	NM_031288.2		83444	94536797	NM_031288.2	INO80B	NP_112578.2	ILMN_1779040	460221	S	1135	TGCGCCCCGTCCCATGCCCGCTCTTGAGTATCTTCCCCACCCTATTAAAT	2	+	74538518-74538567	2p13.1b	"Homo sapiens INO80 complex subunit B (INO80B), mRNA."				HMGIYL4; HMGA1L4; PAPA-1	HMGIYL4; HMGA1L4; PAPA-1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1436	ILMN_170114	GPR75	NM_006794.1	NM_006794.1		10936	5803024	NM_006794.1	GPR75	NP_006785.1	ILMN_1772727	7550598	S	1796	GCACTTCAGCCAAGCAGATTCCAGTCCCCTCCGTTTAAAGTCATGGAGGC	2	-	53933765-53933774:53933775-53933814	2p16.2a	"Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10381362] [evidence TAS]	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 10381362] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	WI-31133; GPR-chr2	GPR-chr2; WI-31133
Molecular function unclassified	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_17726	ILMN_17726	YIPF5	NM_030799.6	NM_030799.6		81555	68131545	NM_030799.6	YIPF5	NP_110426.4	ILMN_1714756	380703	I	2952	CTTAACTGTTGCTCTGTCAAAACAGCTATGCAGTGGAGTTGCATTTGATG	5	-	143518032-143518081	5q32a	"Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 2, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; The continuous network of membranes encompassing the outer nuclear membrane and the endoplasmic reticulum [goid 42175] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"		SMAP-5; YIP1A; DKFZp313L2216; SMAP5; SB140; FinGER5	YIP1A; DKFZp313L2216; SB140; FinGER5; SMAP-5; SMAP5
Transferase -> Glycosyltransferase	Carbohydrate metabolism;Protein metabolism and modification -> Protein modification -> Protein glycosylation	Homo sapiens	RefSeq	ILMN_23778	ILMN_23778	GYLTL1B	NM_152312.3	NM_152312.3		120071	116235481	NM_152312.3	GYLTL1B	NP_689525.3	ILMN_1697916	1850435	S	2185	GAATTCCACCAGGACTTGTCCCGCCACCATGGGGCTGCTGCCCTCAAATA	11	+	45906880-45906929	11p11.2c	"Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	The cellular homeostatic process by which a muscle fiber is preserved in a stable functional or structural state [goid 46716] [evidence ISS]	Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]	LARGE2; FLJ35207; PP5656	FLJ35207; LARGE2; PP5656
Transcription factor -> Basic helix-loop-helix transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_10243	ILMN_10243	MLX	NM_198205.1	NM_198205.1		6945	38201613	NM_198205.1	MLX	NP_937848.1	ILMN_1792207	2570768	A	2157	GAGATGTCACCAGGATAAGACCACAGGGAAGCAAAGAAGGAAGAGAGCTC	17	+	37978594-37978643	17q21.31a	"Homo sapiens MAX-like protein X (MLX), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10918583] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10918583] [evidence IDA]"	"The directed movement of molecules between the nucleus and the cytoplasm [goid 6913] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of DNA-dependent transcription [goid 45892] [pmid 11230181] [evidence IDA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10918583] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [pmid 11230181] [evidence IPI]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 11230181] [evidence IDA]"	MXD7; MAD7; TCFL4	MXD7; MAD7; TCFL4
Ion channel -> Voltage-gated ion channel -> Voltage-gated potassium channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_19663	ILMN_19663	KCNJ1	NM_153766.1	NM_153766.1		3758	24497470	NM_153766.1	KCNJ1	NP_722450.1	ILMN_2357944	7200528	A	1628	CCAGCACAAAGACCCCTGAGCCCCGCAATTGTGATCCCACAAGACATGCA	11	-	128214063-128214112	11q24.3a	"Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k4, mRNA."	"A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [pmid 9015377] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [pmid 9015377] [evidence TAS]; The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds [goid 7588] [pmid 9015377] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA];  [goid 5242] [pmid 9015377] [evidence TAS]; Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA];  [goid 15272] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]"	KIR1.1; ROMK1; ROMK	KIR1.1; ROMK1; ROMK
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3618	ILMN_3618	LOC388882	NM_001006606.1	NM_001006606.1		388882	54633327	NM_001006606.1	LOC388882	NP_001006607.1	ILMN_1683149	6020358	S	1195	ACCTCATCCACGTCTGGAGACTTCATCCGCGACTGGGGGCTTCATCCATG	22	-	22134606-22134655	22q11.23a	"Homo sapiens hypothetical LOC388882 (LOC388882), mRNA."
Cytoskeletal protein -> Microtubule family cytoskeletal protein	Nucleoside, nucleotide and nucleic acid metabolism -> RNA localization;Intracellular protein traffic -> General vesicle transport;Cell cycle;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_25161	ILMN_25161	WDR34	NM_052844.3	NM_052844.3		89891	66267729	NM_052844.3	WDR34	NP_443076.2	ILMN_1685928	6200195	S	1481	GCTGCCTCTGGGAAAGGTGACGTGCAGCTGTTTGATCTCCAGAAAAGCTC	9	-	130436048-130436082:130436326-130436340	9q34.11b	"Homo sapiens WD repeat domain 34 (WDR34), mRNA."				MGC20486; bA216B9.3; RP11-216B9.5	MGC20486; bA216B9.3; RP11-216B9.5
		Homo sapiens	RefSeq	ILMN_171645	ILMN_171645	WTIP	NM_001080436.1	NM_001080436.1		126374	122937268	NM_001080436.1	WTIP	NP_001073905.1	ILMN_2386291	1170180	A	1444	CTATTTATTCACCGTCTGTGCCTGCTCAAGTCACTTCCCTGCGGGCCCTG	19	+	39683165-39683214	19q13.11c	"Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_20290	ILMN_20290	RNF44	NM_014901.4	NM_014901.4		22838	42718018	NM_014901.4	RNF44	NP_055716.1	ILMN_1660079	2690315	S	3712	CCCAGCCCTGGCTGGGCCCAGCGCCTGTGTTCTGTGTTAGAAAGGTTTTA	5	-	175886697-175886746	5q35.2d	"Homo sapiens ring finger protein 44 (RNF44), mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA1100	KIAA1100
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24282	ILMN_24282	CCDC32	NM_052849.2	NM_052849.2		90416	33086946	NM_052849.2	CCDC32	NP_443081.1	ILMN_1811264	5960014	S	1496	GCATGGCTTCTCCTCCAACTTCCTCCTGCACTTAAAAAGGGCCAGGTTCC	15	-	38632749-38632798	15q15.1b	"Homo sapiens coiled-coil domain containing 32 (CCDC32), transcript variant 2, mRNA."				FLJ25915; MGC20481	FLJ25915; MGC20481
Transporter -> Other transporter	Nucleoside, nucleotide and nucleic acid metabolism -> Nucleoside, nucleotide and nucleic acid transport;Transport -> Nucleoside, nucleotide and nucleic acid transport;Transport -> Other transport	Homo sapiens	RefSeq	ILMN_20373	ILMN_20373	SLC35D1	NM_015139.1	NM_015139.1		23169	14028874	NM_015139.1	SLC35D1	NP_055954.1	ILMN_2057768	5310296	S	719	GCCCACCCTGGCCATTGCGTATTTCACAGGAGATGCACAAAAGGCTGTGG	1	-	67259866-67259873:67280507-67280548	1p31.3a	"Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of an endoplasmic reticulum membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 30176] [evidence NAS]"	"The directed movement of carbohydrate into, out of, within or between cells. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y [goid 8643] [evidence IEA]; The directed movement of UDP-N-acetylgalactosamine into, out of, within or between cells. UDP-N-acetylgalactosamine is a substance composed of N-acetylgalactosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate [goid 15789] [evidence NAS]; The chemical reactions and pathways resulting in the formation of chondroitin sulfate, any member of a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues, the repeat units of which consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate [goid 30206] [evidence NAS]"	"Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: sugar(out) + H+(out) = sugar(in) + H+(in) [goid 5351] [evidence IEA]; Catalysis of the transfer of a N-acetylgalactosamine from one side of the membrane to the other. N-acetylgalactosamine is a substance composed of N-acetylgalactosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate [goid 5463] [evidence NAS]"	UGTREL7; KIAA0260; MGC138236	UGTREL7; KIAA0260; MGC138236
Signaling molecule -> Growth factor	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Developmental processes;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_3549	ILMN_3549	TGFB2	NM_003238.1	NM_003238.1		7042	4507462	NM_003238.1	TGFB2	NP_003229.1	ILMN_1812526	7510195	S	1187	CACGAACCCAAAGGGTACAATGCCAACTTCTGTGCTGGAGCATGCCCGTA	1	+	216677386-216677435	1q41c	"Homo sapiens transforming growth factor, beta 2 (TGFB2), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 16227582] [evidence IDA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3457014] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2119582] [evidence TAS]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence ISS]; The volume enclosed by the membrane of the platelet alpha granule [goid 31093] [pmid 3457014] [evidence EXP]; The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections [goid 43025] [evidence ISS]"	"The developmental process by which the size or shape of a cell is generated and organized. Morphogenesis pertains to the creation of form [goid 902] [pmid 15896309] [evidence IDA]; The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [evidence IEA]; Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels [goid 1525] [pmid 9611771] [evidence TAS]; The process whose specific outcome is the progression of the blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood [goid 1568] [evidence IEA]; The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight [goid 1654] [pmid 15944186] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level [goid 1666] [pmid 12411310] [evidence IMP]; A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell [goid 1837] [pmid 14679171] [evidence TAS]; The reorganization or renovation of existing blood vessels [goid 1974] [evidence IEA]; The developmental process by which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood [goid 3007] [pmid 10092230] [evidence IDA]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 18358889] [evidence IDA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [pmid 18223299] [evidence IDA];  [goid 7184] [pmid 17192487] [evidence IDA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 3322813] [evidence TAS]; The process by which the migration of an axon growth cone is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 7411] [evidence IEA]; The process by which the anatomical structures of the salivary gland are generated and organized. Morphogenesis pertains to the creation of form [goid 7435] [pmid 18080134] [evidence IEP]; The specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death [goid 8219] [pmid 16227582] [evidence IDA]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [pmid 15896309] [evidence IDA]; The orderly movement of glial cells, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system [goid 8347] [pmid 18431253] [evidence IDA]; The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant [goid 9790] [pmid 2119582] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of epithelial cell migration [goid 10634] [pmid 17960115] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphoinositide 3-kinase cascade [goid 14068] [pmid 18223299] [evidence IDA]; The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates [goid 30097] [evidence ISS]; Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix [goid 30199] [pmid 16891397] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of cell growth [goid 30307] [pmid 15896309] [evidence IDA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 18358889] [evidence IDA]; The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding [goid 30593] [evidence ISS]; The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding [goid 30593] [pmid 9611771] [evidence TAS]; The process by which the anatomical structures of the hair follicle are generated and organized [goid 31069] [evidence ISS]; Any process that initiates the activity of an inactive protein kinase [goid 32147] [pmid 17960115] [evidence IDA]; Any process that initiates the activity of an inactive protein kinase [goid 32147] [pmid 17192487] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade [goid 32874] [pmid 17192487] [evidence IDA]; Any process that modulates the frequency, rate, or extent of production of transforming growth factor-beta2 [goid 32909] [pmid 12411310] [evidence IMP]; Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin [goid 33630] [pmid 17960115] [evidence IDA]; Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin [goid 33630] [pmid 18223299] [evidence IDA]; The series of events that restore integrity to a damaged tissue, following an injury [goid 42060] [evidence ISS]; The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline [goid 42416] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptosis [goid 43525] [pmid 16227582] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of integrins [goid 45726] [pmid 17960115] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of bone formation [goid 45778] [pmid 17401695] [evidence IEP]; Any process that activates or increases the rate or extent of progression through the cell cycle [goid 45787] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of heart contraction [goid 45823] [pmid 15896309] [evidence IDA]; The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line [goid 48103] [evidence ISS]; The process whereby the developmental fate of a cell becomes restricted such that it will develop into a neuron [goid 48663] [evidence IEA]; The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell [goid 48666] [evidence ISS]; The process by which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons [goid 48699] [pmid 15944186] [evidence TAS]; Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation [goid 50680] [pmid 17217916] [evidence IDA]; Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation [goid 50680] [pmid 16943770] [evidence IMP]; Any process that stops, prevents or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50777] [pmid 9611771] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50778] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of catagen, the regression phase of the hair cycle [goid 51795] [pmid 15955085] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of cardioblast differentiation, the process whereby a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast [goid 51891] [pmid 15896309] [evidence IDA]; The expansion of a cardiac muscle cell population by cell division [goid 60038] [pmid 15896309] [evidence IDA]"	"Interacting selectively with beta-amyloid peptide/protein and/or its precursor [goid 1540] [pmid 16227582] [evidence IDA];  [goid 4702] [pmid 12958365] [evidence IDA]; Interacting selectively with a type II transforming growth factor beta receptor [goid 5114] [pmid 11157754] [evidence IDA]; Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [pmid 9611771] [evidence TAS]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; Interacting selectively with an identical protein to form a homodimer [goid 42803] [pmid 2119582] [evidence IDA]; Interacting selectively with a nonidentical protein to form a heterodimer [goid 46982] [pmid 9611771] [evidence TAS]"	MGC116892; TGF-beta2	MGC116892; TGF-beta2
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification	Homo sapiens	RefSeq	ILMN_28418	ILMN_25889	FBXO11	NM_018693.2	NM_018693.2		80204	30089923	NM_018693.2	FBXO11	NP_061163.2	ILMN_1678404	5080632	A	1807	GCTGGAGTCTGGGTGACAACTGGCAGCACTCCAGTACTGAGAAGAAACCG	2	-	47899617-47899666	2p16.3d	"Homo sapiens F-box protein 11 (FBXO11), transcript variant 2, mRNA."	"A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531035] [evidence NAS]; A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531037] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16487488] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16487488] [evidence IDA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 16487488] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [pmid 10531037] [evidence NAS]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 10531035] [evidence NAS]"	Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 10531035] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17098746] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + histone-arginine = S-adenosyl-L-homocysteine + histone-N-methyl-arginine [goid 8469] [pmid 16487488] [evidence IDA]; Catalysis of the transfer of a methyl group to the carbon atom of an arginine residue in a protein [goid 35244] [pmid 16487488] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	FLJ12673; PRMT9; FBX11; VIT1; UG063H01; MGC44383	FLJ12673; PRMT9; UG063H01; MGC44383; FBX11; VIT1
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification	Homo sapiens	RefSeq	ILMN_25889	ILMN_25889	FBXO11	NM_018693.2	NM_018693.2		80204	30089923	NM_018693.2	FBXO11	NP_061163.2	ILMN_1733164	290037	I	2358	CAATACTTTTCCTTTTGTAGCCACTTTGAGTCTGCAGTTGTCAGTAAGCC	2	-	47893651-47893700	2p16.3d	"Homo sapiens F-box protein 11 (FBXO11), transcript variant 2, mRNA."	"A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531035] [evidence NAS]; A protein complex that includes a ubiquitin-protein ligase (E3) and other proteins that may confer substrate specificity on the complex [goid 151] [pmid 10531037] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16487488] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16487488] [evidence IDA]"	"The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification) [goid 6464] [pmid 16487488] [evidence IDA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [pmid 10531037] [evidence NAS]; The process by which one or more ubiquitin moieties are added to a protein [goid 16567] [pmid 10531035] [evidence NAS]"	Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [pmid 10531035] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17098746] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the reaction: S-adenosyl-L-methionine + histone-arginine = S-adenosyl-L-homocysteine + histone-N-methyl-arginine [goid 8469] [pmid 16487488] [evidence IDA]; Catalysis of the transfer of a methyl group to the carbon atom of an arginine residue in a protein [goid 35244] [pmid 16487488] [evidence IDA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the reaction: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine [goid 4842] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	FLJ12673; PRMT9; FBX11; VIT1; UG063H01; MGC44383	FLJ12673; PRMT9; UG063H01; MGC44383; FBX11; VIT1
Kinase -> Protein kinase;Transferase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Phosphate metabolism;Other metabolism	Homo sapiens	RefSeq	ILMN_24336	ILMN_24336	STRADB	NM_018571.5	NM_018571.5		55437	130979227	NM_018571.5	STRADB	NP_061041.2	ILMN_1701386	2940075	S	1941	GCTGTCCCTTGGGAATGGGCCCTCAGAGGACAGTGCTTCCAAGTACATCT	2	+	202053462-202053511	2q33.1f	"Homo sapiens STE20-related kinase adaptor beta (STRADB), mRNA."				ILPIPA; PAPK; MGC102916; CALS-21; ILPIP; PRO1038	ILPIPA; ILPIP; PAPK; MGC102916; CALS-21; PRO1038
Molecular function unclassified	Signal transduction -> Intracellular signaling cascade -> MAPKKK cascade;Cell cycle -> Cell cycle control;Cell proliferation and differentiation;Oncogenesis	Homo sapiens	RefSeq	ILMN_18038	ILMN_18038	BTG1	NM_001731.1	NM_001731.1		694	4502472	NM_001731.1	BTG1	NP_001722.1	ILMN_1775743	4730369	S	1438	GACCCTTAAAAAGACACTGTCTCAACTGTGGTGTTAGCACCAGCCAGCTC	12	-	91061324-91061373	12q21.33d	"Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9820826] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11420681] [evidence IMP]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11420681] [evidence IMP]"	"The addition of a methyl group to a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom [goid 6479] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 1373383] [evidence IDA]; The orderly movement of cells from one site to another, often during the development of a multicellular organism [goid 16477] [pmid 15033446] [evidence NAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell growth [goid 30308] [pmid 15033446] [evidence NAS]; Any process that modulates the occurrence or rate of cell death by apoptosis [goid 42981] [pmid 9690562] [evidence IMP]; Any process that modulates the frequency, rate or extent of the synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 45449] [pmid 11420681] [evidence NAS]; Any process that activates or increases the frequency, rate or extent of endothelial cell differentiation [goid 45603] [pmid 15033446] [evidence IMP]; Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers [goid 45663] [pmid 15033446] [evidence NAS]; Any process that activates or increases angiogenesis [goid 45766] [pmid 15033446] [evidence IMP]"	"The function that links a sequence-specific transcription factor to the core RNA polymerase II complex but does not bind DNA itself [goid 3712] [pmid 11420681] [evidence NAS]; Interacting selectively with a kinase, any enzyme that catalyzes the transfer of a phosphate group [goid 19900] [pmid 9820826] [evidence NAS]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19517	ILMN_19517	INPP4A	NM_001566.1	NM_001566.1		3631	4504704	NM_001566.1	INPP4A	NP_001557.1	ILMN_1655283	6420035	I	2983	GGAACACGGGAGGTAGTCACCCAGAAAAACTTGAGCGGCCTGGTGCCCAT	2	+	98564602-98564651	2q11.2c	"Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant b, mRNA."		"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 7608176] [evidence TAS]"	"Catalysis of the reaction: 1-phosphatidyl-myo-inositol 3,4-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3-phosphate + phosphate [goid 16316] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: 1-phosphatidyl-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 3-phosphate + phosphate [goid 34597] [evidence IEA]"	INPP4	INPP4
Isomerase -> Other isomerase	Protein metabolism and modification -> Protein modification -> Protein disulfide-isomerase reaction	Homo sapiens	RefSeq	ILMN_14191	ILMN_14191	PDIA5	NM_006810.2	NM_006810.2		10954	142361691	NM_006810.2	PDIA5	NP_006801.1	ILMN_1695763	3170491	S	1310	GGTCATGTTCTACGCCCCTTGGTGCCCACACTGTAAGAAGGTCATTCCGC	3	+	124351891-124351901:124356508-124356546	3q21.1b	"Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The volume enclosed by the membranes of the endoplasmic reticulum [goid 5788] [pmid 7556671] [evidence TAS]"	"Any process that maintains the redox environment of a cell or compartment within a cell [goid 45454] [evidence IEA]; The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure [goid 6457] [pmid 7556671] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [evidence ISS]; Any process that maintains the redox environment of a cell or compartment within a cell [goid 45454] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [pmid 7556671] [evidence TAS]"	"Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins [goid 3756] [pmid 7556671] [evidence TAS]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [pmid 7556671] [evidence TAS]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]"	FLJ30401; PDIR	FLJ30401; PDIR
Signaling molecule -> Other signaling molecule	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade;Developmental processes -> Other developmental process	Homo sapiens	RefSeq	ILMN_9566	ILMN_176964	GDAP1L1	NM_024034.3	NM_024034.3		78997	30581159	NM_024034.3	GDAP1L1	NP_076939.3	ILMN_1760208	290168	S	1993	CCTAGGTCCCCCTCCTAGCCTCTGTCCAAGCCATCTCCTTCAATATCCCC	20	+	42342176-42342225	20q13.12a	"Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA."				dJ881L22.1; DKFZp761K228; dJ995J12.1.1	dJ881L22.1; DKFZp761K228; dJ995J12.1.1
Nucleic acid binding -> Other RNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA polyadenylation;Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA end-processing and stability	Homo sapiens	RefSeq	ILMN_173094	ILMN_173094	PABPC1	NM_002568.3	NM_002568.3		26986	56676313	NM_002568.3	PABPC1	NP_002559.2	ILMN_2136133	3060040	S	2547	GAACCTTATGTACCGAGCAAATGCCAGGTCTAGCAAACATAATGCTAGTC	8	-	101784583-101784632	8q22.3a	"Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9582337] [evidence TAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12588972] [evidence EXP]"	"The enzymatic addition of a sequence of 40-200 adenylyl residues at the 3' end of a eukaryotic mRNA primary transcript [goid 6378] [pmid 2885805] [evidence TAS]; Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]; Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules [goid 48255] [pmid 11997512] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Interacting selectively with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue [goid 8022] [pmid 15663938] [evidence IPI]; Interacting selectively with the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA [goid 8143] [pmid 2885805] [evidence TAS]; Any of a group of soluble proteins functioning in the activation of ribosome-mediated translation of mRNA into a polypeptide [goid 8494] [pmid 11997512] [evidence TAS]"	PABPL1; PABPC2; PABP1; PAB1; PABP	PABP1; PABPL1; PABPC2; PAB1; PABP
Defense/immunity protein -> Complement component	Immunity and defense -> Complement-mediated immunity	Homo sapiens	RefSeq	ILMN_138176	ILMN_138176	C1QA	NM_015991.1	NM_015991.1		712	7705752	NM_015991.1	C1QA	NP_057075.1	ILMN_1737918	2940685	S	589	ACCAACAAGGGGCTCTTCCAGGTGGTGTCAGGGGGCATGGTGCTTCAGCT	1	+	22838328-22838377	1p36.12a	"Homo sapiens complement component 1, q subcomponent, alpha polypeptide (C1QA), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 814163] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1249422] [evidence EXP]; A protein complex composed of six subunits of C1q, each formed of the three homologous polypeptide chains C1QA, C1QB, and C1QB, and tetramer of two C1QR and two C1QS polypeptide chains [goid 5602] [pmid 9461517] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 18029348] [evidence IDA]"	"Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 9461517] [evidence TAS]; Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens [goid 45087] [evidence IEA]"
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_4095	ILMN_164898	F7	NM_000131.3	NM_000131.3		2155	116805320	NM_000131.3	F7	NP_000122.1	ILMN_1740559	780100	A	2387	GCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAAC	13	+	112822258-112822307	13q34c	"Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8598903] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3527261] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3037537] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8598903] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3527261] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP]	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 3037537] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18267072] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_164898	ILMN_164898	F7	NM_000131.3	NM_000131.3		2155	116805320	NM_000131.3	F7	NP_000122.1	ILMN_2267025	6650170	I	127	AAGGCCTCAGGAGGAGAAACACGGGACATGCCGTGGAAGCCGGGGCCTCA	13	+	112809171-112809220	13q34c	"Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8598903] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3527261] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3037537] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8598903] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3527261] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP]	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 3037537] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18267072] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"
Protease -> Serine protease	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_164898	ILMN_164898	F7	NM_000131.3	NM_000131.3		2155	116805320	NM_000131.3	F7	NP_000122.1	ILMN_2358265	3190280	A	3001	ACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGA	13	+	112822872-112822921	13q34c	"Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8639673] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 8598903] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3527261] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 3037537] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 8598903] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3527261] [evidence EXP]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP]	The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP]	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [pmid 3037537] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 18267072] [evidence IPI]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"
Nucleic acid binding -> mRNA processing factor -> mRNA splicing factor	Nucleoside, nucleotide and nucleic acid metabolism -> Pre-mRNA processing -> mRNA splicing	Homo sapiens	RefSeq	ILMN_22184	ILMN_22184	PRPF31	NM_015629.2	NM_015629.2		26121	40254868	NM_015629.2	PRPF31	NP_056444.2	ILMN_1719204	1190707	S	1802	GCATGGCTGAGTTCCTCAAGGTCAAGGGCGAGAAGAGTGGCCTTATGTCC	19	+	59326628-59326675:59326676-59326677	19q13.42a	"Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron [goid 5681] [evidence IEA]; A class of nuclear body, first seen after silver staining by Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA [goid 15030] [pmid 11867543] [evidence IDA]; A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy [goid 16607] [pmid 11867543] [evidence IDA]; A complex composed of three small nuclear ribonucleoproteins, snRNP U4, snRNP U6 and snRNP U5 [goid 46540] [pmid 11867543] [evidence IDA]"	"The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex [goid 244] [pmid 11867543] [evidence IDA]; The joining together of exons from one or more primary transcripts of nuclear messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced [goid 398] [pmid 11867543] [evidence IDA]; The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA [goid 8380] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11867543] [evidence IDA]; Interacting selectively with any complex of RNA and protein [goid 43021] [pmid 11867543] [evidence IDA]	DKFZp566J153; PRP31; NY-BR-99; RP11	PRP31; RP11; DKFZp566J153; NY-BR-99
Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_8912	ILMN_8912	MYO1G	NM_033054.1	NM_033054.1		64005	54873626	NM_033054.1	MYO1G	NP_149043.1	ILMN_1692295	3370139	S	3019	ACCCTGGAGGTTCGCGTCTCCGACTGCATCCCACTAAGCCATCGCGGGGT	7	-	44968959-44969008	7p13c	"Homo sapiens myosin IG (MYO1G), mRNA."	"A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]"		"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	HA-2; MGC142104	HA-2; MGC142104
		Homo sapiens	RefSeq	ILMN_1627	ILMN_177351	LOC100008589	NR_003287.1	NR_003287.1		100008589	124517661	NR_003287.1	LOC100008589		ILMN_1733559	6280504	I	4010	GCGGGCCGCCGGTGAAATACCACTACTCTGATCGTTTTTTCACTGACCCG					"Homo sapiens 28S ribosomal RNA (LOC100008589), non-coding RNA."
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_12812	ILMN_12812	ZNF813	NM_001004301.3	NM_001004301.3		126017	146149286	NM_001004301.3	ZNF813	NP_001004301.2	ILMN_1749809	5310315	S	3986	CTTGACTATGTTGAACCATCCTTGCATCCCAGAAATAAGTGGCACTTGAG	19	+	58689156-58689205	19q13.41b	"Homo sapiens zinc finger protein 813 (ZNF813), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ16542; FLJ34141	FLJ16542; FLJ34141
Defense/immunity protein -> Complement component	Immunity and defense -> Complement-mediated immunity	Homo sapiens	RefSeq	ILMN_18380	ILMN_18380	CFHR2	NM_005666.2	NM_005666.2		3080	49574530	NM_005666.2	CFHR2	NP_005657.1	ILMN_2045453	3120601	S	474	GGCTGGTCCACTCCTCCCAAATGCAGGTCCACTATTTCTGCAGAAAAATG	1	+	195186748-195186781:195193644-195193659	1q31.3c	"Homo sapiens complement factor H-related 2 (CFHR2), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]			CFHL2; HFL3; FHR2	CFHL2; HFL3; FHR2
Nucleic acid binding -> Translation factor -> Translation initiation factor;Select regulatory molecule -> G-protein modulator -> Guanyl-nucleotide exchange factor	Protein metabolism and modification -> Protein biosynthesis;Protein metabolism and modification -> Translational regulation	Homo sapiens	RefSeq	ILMN_18552	ILMN_18552	EIF2B4	NM_015636.3	NM_015636.3		8890	78000155	NM_015636.3	EIF2B4	NP_056451.3	ILMN_2356672	6370494	A	1554	GCGCTGGCTAACTGGCAGAACCACGCATCCCTACGGTTGTTGAATCTAGT	2	-	27440879-27440928	2p23.3a	"Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11323413] [evidence IDA]; A multisubunit guanine nucleotide exchange factor which catalyzes the exchange of GDP bound to initiation factor eIF2 for GTP, generating active eIF2-GTP. In humans, it is composed of five subunits, alpha, beta, delta, gamma and epsilon [goid 5851] [pmid 11323413] [evidence IDA]; A multisubunit guanine nucleotide exchange factor which catalyzes the exchange of GDP bound to initiation factor eIF2 for GTP, generating active eIF2-GTP. In humans, it is composed of five subunits, alpha, beta, delta, gamma and epsilon [goid 5851] [pmid 15060152] [evidence IDA]"	"The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure [goid 1541] [pmid 15507143] [evidence IMP]; The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA [goid 6413] [pmid 16289705] [evidence IDA]; Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA [goid 6417] [pmid 12556349] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism [goid 9408] [evidence ISS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism [goid 9408] [pmid 12499492] [evidence TAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus [goid 9749] [evidence ISS]; The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system [goid 14003] [pmid 15217090] [evidence IMP]; The process by which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier [goid 42552] [pmid 14566705] [evidence IMP]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals [goid 43434] [evidence ISS]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]; A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 51716] [pmid 8626696] [evidence IDA]; The chemical reactions and pathways by which individual cells transform chemical substances [goid 44237] [evidence IEA]"	"Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide [goid 3743] [pmid 16289705] [evidence IDA]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [pmid 11323413] [evidence IDA]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [pmid 15054402] [evidence IMP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15060152] [evidence IPI]; Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide [goid 3743] [evidence IEA]"	EIF-2B; EIF2Bdelta; EIF2B; DKFZp586J0119	EIF-2B; DKFZp586J0119; EIF2Bdelta; EIF2B
Transcription factor	Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_4956	ILMN_4956	MAML3	NM_018717.3	NM_018717.3		55534	68299820	NM_018717.3	MAML3	NP_061187.2	ILMN_1795499	1820377	S	7015	AACAATTCCATTTCCAACTAGTTCATCTGGAGGTAGGGAGGCTCCACTGG	4	-	140857031-140857080	4q31.1d-q31.1e	"Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12370315] [evidence IDA]; A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy [goid 16607] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell [goid 7219] [pmid 12370315] [evidence IDA]; Any process that activates or increases the frequency, rate or extent of transcription from the RNA polymerase II promoter [goid 45944] [pmid 12370315] [evidence IDA]"	The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 12370315] [evidence IDA]	GDN; MAM-2; MAM2; TNRC3; ERDA3; CAGH3	MAM2; CAGH3; GDN; MAM-2; TNRC3; ERDA3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_138435	ILMN_183111	CEP110	NM_007018.4	NM_007018.4		11064	87298936	NM_007018.4	CEP110	NP_008949.4	ILMN_1758778	1440630	S	6915	CAGCGTCATCACCCAGTCTGTCTCAGCTGGAGTCTTCCCTCACAGAGGAC	9	+	122977253-122977302	9q33.2a	"Homo sapiens centrosomal protein 110kDa (CEP110), mRNA."	"A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [evidence IEA]; A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle [goid 5813] [pmid 16760425] [evidence IDA]"	"The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]; Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells [goid 32465] [pmid 16760425] [evidence IMP]; The replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized [goid 51298] [pmid 16760425] [evidence IMP]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16760425] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	FAN; bA165P4.1; CEP1	FAN; bA165P4.1; CEP1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25398	ILMN_25398	FLJ14213	NM_024841.3	NM_024841.3		79899	142387866	NM_024841.3	FLJ14213	NP_079117.2	ILMN_1697491	4610672	S	3731	GAGAGCTATTGGAGTGAGAGCTGAGGTGTCCTTAACCACTTTTTCTCTCC	11	+	36443131-36443180	11p13a-p12d	"Homo sapiens protor-2 (FLJ14213), mRNA."				MGC16218	MGC16218
Protease -> Serine protease;Defense/immunity protein -> Complement component	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Complement-mediated immunity	Homo sapiens	RefSeq	ILMN_23604	ILMN_23604	C2	NM_000063.3	NM_000063.3		717	20631970	NM_000063.3	C2	NP_000054.2	ILMN_1710740	670594	S	2328	GAATCTGCCGCCCCTCCATCTTCTACCTCTGAATGGCCACCCTTAGACCC	6	+	32021146-32021195	6p21.32b	"Homo sapiens complement component 2 (C2), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 12878586] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 15199963] [evidence EXP]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 6019133] [evidence EXP]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 8621452] [evidence TAS]"	"The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; The hydrolysis of a peptide bond or bonds within a protein [goid 6508] [evidence IEA]; Any process involved in the activation of any of the steps of the alternative pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes [goid 6957] [pmid 162484] [evidence EXP]; Any process involved in the activation of any of the steps of the classical pathway of the complement cascade which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes [goid 6958] [pmid 8621452] [evidence TAS]"	"Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine) [goid 4252] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]"	DKFZp779M0311; CO2	CO2; DKFZp779M0311
Kinase -> Protein kinase -> Non-receptor serine/threonine protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction -> Intracellular signaling cascade -> MAPKKK cascade;Developmental processes;Cell cycle	Homo sapiens	RefSeq	ILMN_4830	ILMN_19949	RPS6KA4	NM_001006944.1	NM_001006944.1		8986	55743137	NM_001006944.1	RPS6KA4	NP_001006945.1	ILMN_1756204	6060433	A	2861	GGCCCTGGGGGACCCTCTGAAGCATTTCTGCCTCACTTTATGTCATCTGC	11	+	63896005-63896054	11q13.1b	"Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11035004] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 9792677] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence ISS]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 9792677] [evidence IDA]; The process of introducing a phosphate group on to a protein [goid 6468] [pmid 9792677] [evidence IDA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence ISS]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 9792677] [evidence IDA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the phosphorylation of ribosomal protein S6 [goid 4711] [pmid 11035004] [evidence NAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9792677] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence ISS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 9792677] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with mitogen-activated protein kinase p38, an enzyme that catalyzes the transfer of phosphate from ATP to hydroxyl side chains on proteins in response to mitogen activation [goid 48273] [pmid 11035004] [evidence IGI]; Interacting selectively with mitogen-activated protein kinase p38, an enzyme that catalyzes the transfer of phosphate from ATP to hydroxyl side chains on proteins in response to mitogen activation [goid 48273] [evidence ISS]"	RSK-B; MSK2	RSK-B; MSK2
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Neuronal activities -> Synaptic transmission -> Neurotransmitter release	Homo sapiens	RefSeq	ILMN_24223	ILMN_24223	CHRM4	NM_000741.2	NM_000741.2		1132	52426747	NM_000741.2	CHRM4	NP_000732.2	ILMN_1660882	4780609	S	1361	CTCTGTGCAACGCCACCTTTAAAAAGACCTTCCGGCACCTGCTGCTGTGC	11	-	46363273-46363322	11p11.2c	"Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 3443095] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 3037705] [evidence TAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The series of molecular signals generated as a consequence of a muscarinic acetylcholine receptor binding to one of its physiological ligands; muscarinic acetylcholine receptors activate inhibitory G proteins and can be activated by the fungal alkaloid muscarine [goid 7213] [pmid 3443095] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 2739737] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA];  [goid 4981] [pmid 9603968] [evidence TAS]	HM4	HM4
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23047	ILMN_23047	RSPO3	NM_032784.3	NM_032784.3		84870	73915101	NM_032784.3	RSPO3	NP_116173.2	ILMN_1681983	6550204	S	1801	GGTCACCTGGAACAGGTCTCCAATCTATGTTAGCACTATGTGGCTCAGCC	6	+	127559537-127559586	6q22.33a	"Homo sapiens R-spondin 3 homolog (Xenopus laevis) (RSPO3), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	"The series of molecular signals initiated by binding of Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state [goid 16055] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	"Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Any molecular entity that serves as an electron acceptor and electron donor in an electron transport system [goid 9055] [evidence IEA]; Interacting selectively with an iron-sulfur cluster, a combination of iron and sulfur atoms [goid 51536] [evidence IEA]"	THSD2; PWTSR; FLJ14440; CRISTIN1	THSD2; PWTSR; FLJ14440; CRISTIN1
Transferase -> Acyltransferase	Amino acid metabolism;Protein metabolism and modification -> Protein modification;Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_23263	ILMN_172918	GGT7	NM_178026.2	NM_178026.2		2686	109148538	NM_178026.2	GGT7	NP_821158.2	ILMN_1737036	7150537	A	631	ACGAAATGAGAGCCACCTAATTGATTTCCGGGAGTCCGCACCAGGGGCCC	20	-	32912946-32912995	20q11.22b	"Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins [goid 6750] [evidence IEA]"	"Catalysis of the reaction: (5-L-glutamyl)-peptide + an amino acid = peptide + 5-L-glutamyl-amino acid [goid 3840] [evidence IEA]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	dJ18C9.2; GGTL5; D20S101	dJ18C9.2; GGTL5; D20S101
Molecular function unclassified	Cell cycle -> Cell cycle control	Homo sapiens	RefSeq	ILMN_12557	ILMN_12557	GAS2L1	NM_152237.1	NM_152237.1		10634	23065528	NM_152237.1	GAS2L1	NP_689423.1	ILMN_1792777	6620431	I	1540	CCGTCCACCAGCCACATACCCTGCTGTTCCTCTCCCTGCCTGTTCTGCAT	22	+	28037352-28037401	22q12.2a	"Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]"	"The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]"		MGC17243; GAR22	MGC17243; GAR22
Hydrolase -> Glycosidase	Carbohydrate metabolism	Homo sapiens	RefSeq	ILMN_17640	ILMN_17640	LCTL	NM_207338.2	NM_207338.2		197021	110681709	NM_207338.2	LCTL	NP_997221.2	ILMN_1763537	4780347	S	1266	TCTGGGGTCTAAATGGCTATATTCTGTGCCATGGGGATTTAGGAGGCTCC	15	-	64632389-64632438	15q22.31c	"Homo sapiens lactase-like (LCTL), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the hydrolysis of any O-glycosyl bond [goid 4553] [evidence IEA]; Interacting selectively with cations, charged atoms or groups of atoms with a net positive charge [goid 43169] [evidence IEA]"	KLG; KLPH; FLJ33279	KLG; KLPH; FLJ33279
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12196	ILMN_12196	SH2D3C	NM_005489.1	NM_005489.1		10044	4885526	NM_005489.1	SH2D3C	NP_005480.1	ILMN_2321648	2490475	A	1474	GCTACGCCTAGACCTGCTGGAAAGGTTCCACACCATGTCCATCATGCTGG	9	-	129544027-129544059:129544949-129544965	9q34.11a	"Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"A cascade of protein kinase activities, culminating in the phosphorylation and activation of a member of the JUN kinase subfamily of stress-activated protein kinases, which in turn are a subfamily of mitogen-activated protein (MAP) kinases that is activated primarily by cytokines and exposure to environmental stress [goid 7254] [pmid 10187783] [evidence TAS]; Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]"	"Interacting selectively and simultaneously with one or more signal transduction molecules, usually acting as a scaffold to bring these molecules into close proximity either using their own SH2/SH3 domains (e.g. Grb2) or those of their target molecules (e.g. SAM68) [goid 5070] [pmid 10187783] [evidence TAS]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	NSP3; CHAT; FLJ39664; PRO34088	NSP3; CHAT; FLJ39664; PRO34088
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12196	ILMN_12196	SH2D3C	NM_005489.1	NM_005489.1		10044	4885526	NM_005489.1	SH2D3C	NP_005480.1	ILMN_1674440	5870450	I	27	TTGCCGGCGGCGACAGCGGGGGAAGCATGACTGCTGTGGGCCGAAGGTGC	9	-	129573299-129573329:129573330-129573348	9q34.11a	"Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"A cascade of protein kinase activities, culminating in the phosphorylation and activation of a member of the JUN kinase subfamily of stress-activated protein kinases, which in turn are a subfamily of mitogen-activated protein (MAP) kinases that is activated primarily by cytokines and exposure to environmental stress [goid 7254] [pmid 10187783] [evidence TAS]; Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]"	"Interacting selectively and simultaneously with one or more signal transduction molecules, usually acting as a scaffold to bring these molecules into close proximity either using their own SH2/SH3 domains (e.g. Grb2) or those of their target molecules (e.g. SAM68) [goid 5070] [pmid 10187783] [evidence TAS]; Stimulates the exchange of guanyl nucleotides by a GTPase. Under normal cellular physiological conditions, the concentration of GTP is higher than that of GDP, favoring the replacement of GDP by GTP in association with the GTPase [goid 5085] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"	NSP3; CHAT; FLJ39664; PRO34088	NSP3; CHAT; FLJ39664; PRO34088
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25337	ILMN_25337	KRCC1	NM_016618.1	NM_016618.1		51315	7706155	NM_016618.1	KRCC1	NP_057702.1	ILMN_2091375	5340703	S	1110	AGGAACAAGGCCAAGAAAGGACAGAGGAGGAAATGCTTTGGGACCAGTCT	2	-	88108432-88108481	2p11.2d	"Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA."				FLJ22333; CHBP2	FLJ22333; CHBP2
Signaling molecule -> Other signaling molecule;Cytoskeletal protein;Miscellaneous function -> Other miscellaneous function protein	Cell cycle -> Other cell cycle process;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_23905	ILMN_23905	TRIP10	NM_004240.2	NM_004240.2		9322	42516568	NM_004240.2	TRIP10	NP_004231.1	ILMN_2161746	430431	S	1759	GGAGCCCCAGGACCTATGCACTTTATTTCTGACCCCGTGGCTTCGGCTGA	19	+	6702277-6702326	19p13.3a	"Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9210375] [evidence NAS]; A cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions [goid 5764] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]"	"A type of vesicle-mediated transport in which cells take up external materials or membrane constituents by the invagination of small region of the plasma membrane to form a new membrane-bounded vesicle [goid 6897] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 9210375] [evidence TAS]; A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins [goid 30036] [pmid 9210375] [evidence NAS]"	Interacting selectively with a lipid [goid 8289] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [pmid 17512409] [evidence IPI]	CIP4; STOT; HSTP; STP	CIP4; STOT; HSTP; STP
Miscellaneous function -> Structural protein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_28659	ILMN_28659	C1ORF9	NM_016227.1	NM_016227.1		51430	7705321	NM_016227.1	C1orf9	NP_057311.1	ILMN_1791524	2600360	I	199	GGGAAAGGGCTTGGTGCAGCTTCCCTCACAACACACACGTCATTCTAGGC	1	+	170768310-170768359	1q24.3d	"Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			CH1	CH1
Signaling molecule -> Other signaling molecule	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2706	ILMN_2706	COPS8	NM_198189.2	NM_198189.2		10920	40805829	NM_198189.2	COPS8	NP_937832.1	ILMN_1705711	1110709	I	605	CGCTTGATGTAATGGGCAGAATCAGAATGCTTCAGGAATCTGTCGAATTT	2	+	237660116-237660165	2q37.3a	"Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8689678] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A protein complex that catalyzes the deneddylation of proteins, including the cullin component of SCF ubiquitin E3 ligase; deneddylation increases the activity of cullin family ubiquitin ligases. The signalosome is involved in many regulatory process, including some which control development, in many species; also regulates photomorphogenesis in plants; in many species its subunits are highly similar to those of the proteasome [goid 8180] [evidence IEA]"			COP9; MGC43256; MGC1297; CSN8; SGN8	COP9; MGC43256; MGC1297; CSN8; SGN8
Signaling molecule -> Growth factor	Signal transduction -> Cell surface receptor mediated signal transduction -> Receptor protein tyrosine kinase signaling pathway	Homo sapiens	RefSeq	ILMN_6609	ILMN_6609	FGF13	NM_033642.1	NM_033642.1		2258	16306542	NM_033642.1	FGF13	NP_378668.1	ILMN_1653826	1090056	I	24	CTCTGTGTCTGCTCCAAATGTAGACAGCAATTGTCTGGGTAGGACCAGCT	X	-	137649108-137649157	Xq26.3d	"Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1B, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8790420] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12244047] [evidence IPI]"	"Cascade of at least three protein kinase activities culminating in the phosphorylation and activation of a MAP kinase. MAPKKK cascades lie downstream of numerous signaling pathways [goid 165] [pmid 12244047] [evidence IDA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8790420] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 8790420] [evidence TAS]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [pmid 8790420] [evidence TAS]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12244047] [evidence IPI]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [pmid 8790420] [evidence TAS]; Increases the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 30295] [pmid 12244047] [evidence IGI]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]"	FHF2; FGF2	FGF2; FHF2
Kinase;Transferase	Signal transduction -> Cell communication	Homo sapiens	RefSeq	ILMN_12468	ILMN_12468	ITPKB	NM_002221.2	NM_002221.2		3707	38569399	NM_002221.2	ITPKB	NP_002212.2	ILMN_1700432	4830239	S	5542	CCCACTTGGTAGAAAGAGCCCAGAAGCAGCCCTGGCCCTGTAAGATGGAC	1	-	224886280-224886329	1q42.12d	"Homo sapiens inositol 1,4,5-trisphosphate 3-kinase B (ITPKB), mRNA."		"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 1654894] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate [goid 8440] [pmid 1654894] [evidence TAS]; Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule [goid 16301] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	IP3KB; IP3K; PIG37; IP3K-B	IP3K-B; IP3KB; IP3K; PIG37
Hydrolase -> Esterase	Protein metabolism and modification -> Protein biosynthesis;Other metabolism	Homo sapiens	RefSeq	ILMN_20162	ILMN_20162	PTRH2	NM_016077.3	NM_016077.3		51651	62865877	NM_016077.3	PTRH2	NP_057161.1	ILMN_2311548	4900575	A	459	GGCCAGCCCAAGGTGGTGGTCAAAGCTCCTGATGAAGAAACCCTGATTGC	17	-	55129738-55129787	17q23.1a	"Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]"	"Catalysis of the reaction: N-substituted aminoacyl-tRNA + H2O = N-substituted amino acid + tRNA [goid 4045] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FLJ32471; CGI-147; PTH2; BIT1	CGI-147; FLJ32471; PTH2; BIT1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18556	ILMN_18556	SPN	NM_001030288.1	NM_001030288.1		6693	71979936	NM_001030288.1	SPN	NP_001025459.1	ILMN_1801040	10358	A	6468	AGTGGTGTGCGCCTGTGGTACCAGCTACTCAAGAGGCGAAGGCAGGGAAG	16	+	29588882-29588931	16p11.2d	"Homo sapiens sialophorin (leukosialin, CD43) (SPN), transcript variant 1, mRNA."	"A membrane projection with related cytoskeletal components at the trailing edge of a cell in the process of migrating or being activated, found on the opposite side of the cell from the leading edge or immunological synapse, respectively [goid 1931] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10899905] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2023632] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a protozoan [goid 1562] [evidence IEA]; Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response [goid 1808] [evidence IEA]; The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 10753822] [evidence TAS]; A defense response that is mediated by cells [goid 6968] [pmid 1683685] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion [goid 7162] [pmid 10753822] [evidence TAS]; Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns [goid 7163] [pmid 10753822] [evidence TAS]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [evidence IEA]; Any process induced by extracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8624] [evidence IEA]; The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation [goid 31295] [evidence IEA]; Any process that activates or increases the rate or extent of T cell proliferation [goid 42102] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of T cell proliferation [goid 42130] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of tumor necrosis factor, an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis [goid 42535] [pmid 10899905] [evidence IDA]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [pmid 10899905] [evidence IDA]; The process of elimination of immature T cells in the thymus which react strongly with self-antigens [goid 45060] [evidence IEA]; Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism [goid 50688] [evidence IEA]; Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50776] [evidence IEA]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 1683685] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any part of a bacterial cell [goid 8367] [pmid 10899905] [evidence IDA]"	CD43; GPL115; LSN	GPL115; CD43; LSN
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18556	ILMN_18556	SPN	NM_001030288.1	NM_001030288.1		6693	71979936	NM_001030288.1	SPN	NP_001025459.1	ILMN_1658017	4220373	I	14	CCCTCCCTAGCATCACCACTTCCATCCCATTCCTCAGCCAAGAGCCAGGA	16	+	29581814-29581863	16p11.2d	"Homo sapiens sialophorin (leukosialin, CD43) (SPN), transcript variant 1, mRNA."	"A membrane projection with related cytoskeletal components at the trailing edge of a cell in the process of migrating or being activated, found on the opposite side of the cell from the leading edge or immunological synapse, respectively [goid 1931] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 10899905] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2023632] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a protozoan [goid 1562] [evidence IEA]; Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response [goid 1808] [evidence IEA]; The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 10753822] [evidence TAS]; A defense response that is mediated by cells [goid 6968] [pmid 1683685] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion [goid 7162] [pmid 10753822] [evidence TAS]; Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns [goid 7163] [pmid 10753822] [evidence TAS]; Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [evidence IEA]; Any process induced by extracellular signals that directly activates any of the steps required for cell death by apoptosis [goid 8624] [evidence IEA]; The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation [goid 31295] [evidence IEA]; Any process that activates or increases the rate or extent of T cell proliferation [goid 42102] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of T cell proliferation [goid 42130] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of tumor necrosis factor, an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis [goid 42535] [pmid 10899905] [evidence IDA]; Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism [goid 42742] [pmid 10899905] [evidence IDA]; The process of elimination of immature T cells in the thymus which react strongly with self-antigens [goid 45060] [evidence IEA]; Any process that modulates the frequency, rate or extent of the antiviral response of a cell or organism [goid 50688] [evidence IEA]; Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus [goid 50776] [evidence IEA]"	"Combining with an extracellular or intracellular messenger to initiate a change in cell activity, and spanning to the membrane of either the cell or an organelle [goid 4888] [pmid 1683685] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any part of a bacterial cell [goid 8367] [pmid 10899905] [evidence IDA]"	CD43; GPL115; LSN	GPL115; CD43; LSN
Protease -> Cysteine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_36215	ILMN_26659	USP32	NM_032582.3	NM_032582.3		84669	44889413	NM_032582.3	USP32	NP_115971.2	ILMN_1653337	2230553	A	5789	CAGAGCCTTGTGGGAGACCCAGTAGAAAGAAACAGCATCCTGGGAAATCC	17	-	55610660-55610709	17q23.2a	"Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 8234] [evidence IEA]; Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]"	USP10; NY-REN-60	USP10; NY-REN-60
Protease -> Cysteine protease	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_26659	ILMN_26659	USP32	NM_032582.3	NM_032582.3		84669	44889413	NM_032582.3	USP32	NP_115971.2	ILMN_1804743	5290369	I	1706	ACTGCTGGCAGCGGCTTTCTGTATTCTGCCACACCAGGGGCAGATGTTTG	17	-	55655692-55655729:55658182-55658193	17q23.2a	"Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]"	"Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile [goid 8234] [evidence IEA]; Catalysis of the reaction: ubiquitin C-terminal thiolester + H2O = ubiquitin + a thiol. Hydrolysis of esters, including those formed between thiols such as dithiothreitol or glutathione and the C-terminal glycine residue of the polypeptide ubiquitin, and AMP-ubiquitin [goid 4221] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]"	USP10; NY-REN-60	USP10; NY-REN-60
Transferase -> Other transferase	Carbohydrate metabolism -> Other polysaccharide metabolism;Protein metabolism and modification -> Protein modification;Sulfur metabolism;Signal transduction;Immunity and defense;Developmental processes	Homo sapiens	RefSeq	ILMN_19372	ILMN_19372	HS3ST6	NM_001009606.2	NM_001009606.2		64711	116089311	NM_001009606.2	HS3ST6	NP_001009606.2	ILMN_1710416	7000035	S	599	ACCTGGACCACTGGCTGCGCTACTTCCCCCTGTCCCACTTCCTGTTCGTC	16	-	1901879-1901928	16p13.3e	"Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The process of syncytia-forming cell-cell fusion, caused by a virus [goid 6948] [evidence ISS]; The process by which a virion enters a host cell, including virion attachment and penetration [goid 46718] [evidence ISS]"	"Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate [goid 8146] [evidence IEA]; Catalysis of the reaction: 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate + [heparan sulfate]-glucosamine 3-sulfate, with a substrate consensus sequence of Glc(N2S>NAc)+/-6S GlcA GlcN2S*+/-6S GlcA>IdoA+/-2S Glc(N2S/NAc)+/-6S [goid 8467] [evidence ISS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	HS3ST5	HS3ST5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_18737	ILMN_162850	IER5	NM_016545.4	NM_016545.4		51278	142976756	NM_016545.4	IER5	NP_057629.2	ILMN_1721833	650241	S	1886	GGGATTTAGCCAAGAGCACAGACTTGGATTCCTTCTGTCCCTCCCCACCT	1	+	179326146-179326195	1q25.3a	"Homo sapiens immediate early response 5 (IER5), mRNA."				SBBI48; MGC102760	SBBI48; MGC102760
Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein	Muscle contraction;Developmental processes -> Mesoderm development -> Muscle development;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_11210	ILMN_11210	MYO18A	NM_078471.3	NM_078471.3		399687	42794777	NM_078471.3	MYO18A	NP_510880.2	ILMN_2330806	1170730	A	5835	AAGGAGGCCGAGGCGAGCCGCAAGAAGCACGAACTGGAGATGGATCTAGA	17	-	24437707-24437721:24438080-24438114	17q11.2b	"Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi transport [goid 5793] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]"	"The chemical reactions and pathways involving DNA, deoxyribonucleic acid, one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides [goid 6259] [evidence IEA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 9918798] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate in the presence of single- or double-stranded DNA; drives another reaction [goid 8094] [evidence IEA]"	KIAA0216; DKFZp686L0243; MYSPDZ	KIAA0216; DKFZp686L0243; MYSPDZ
Cytoskeletal protein -> Actin family cytoskeletal protein -> Actin binding motor protein	Muscle contraction;Developmental processes -> Mesoderm development -> Muscle development;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_11083	ILMN_11210	MYO18A	NM_078471.3	NM_078471.3		399687	42794777	NM_078471.3	MYO18A	NP_510880.2	ILMN_1780560	270093	A	7538	CCCGATGTATGGAAATAAAGGCCCTTTTCCTCCTGGCTGCGCCAGTAAAA				17q11.2b	"Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi transport [goid 5793] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes [goid 16459] [evidence IEA]"	"The chemical reactions and pathways involving DNA, deoxyribonucleic acid, one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides [goid 6259] [evidence IEA]; A process which directly inhibits any of the steps required for cell death by apoptosis [goid 6916] [pmid 9918798] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of movement along a polymeric molecule such as a microfilament or microtubule, coupled to the hydrolysis of a nucleoside triphosphate [goid 3774] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate in the presence of single- or double-stranded DNA; drives another reaction [goid 8094] [evidence IEA]"	KIAA0216; DKFZp686L0243; MYSPDZ	KIAA0216; DKFZp686L0243; MYSPDZ
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_24990	ILMN_24990	TMEM176A	NM_018487.2	NM_018487.2		55365	32484986	NM_018487.2	TMEM176A	NP_060957.2	ILMN_1791511	5720682	S	935	AGCAGCACTTGCCCATTCCTTACACCCCTTCCCCATCCTGCTCCGCTTCA	7	+	150133038-150133087	7q36.1c	"Homo sapiens transmembrane protein 176A (TMEM176A), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			HCA112; GS188	HCA112; GS188
Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_6529	ILMN_6529	KRT19	NM_002276.3	NM_002276.3		3880	40217850	NM_002276.3	KRT19	NP_002267.2	ILMN_1730777	6060630	S	1091	CCTTGGAAGACACACTGGCAGAAACGGAGGCGCGCTTTGGAGCCCAGCTG	17	-	36933718-36933767	17q21.2b	"Homo sapiens keratin 19 (KRT19), mRNA."	"A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [pmid 2448790] [evidence TAS]; Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached [goid 30018] [evidence IEA]; The outer membrane of a muscle fiber, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers [goid 42383] [evidence IEA]; Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix [goid 43034] [pmid 16000376] [evidence IDA]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics [goid 43627] [pmid 10037815] [evidence IEP]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; The myofibril assembly process by which the muscle actomyosin is organized into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs [goid 45214] [pmid 16000376] [evidence IDA]"	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure [goid 5200] [pmid 2448790] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16000376] [evidence IPI]; The action of a molecule that contributes to the structural integrity of a muscle fiber [goid 8307] [pmid 16000376] [evidence IDA]	CK19; MGC15366; K1CS; K19	K19; CK19; MGC15366; K1CS
Nucleic acid binding -> Other DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_14073	ILMN_14073	MBD1	NM_015844.1	NM_015844.1		4152	7710134	NM_015844.1	MBD1	NP_056669.1	ILMN_2352580	2340445	A	1916	GGATGGCCTGGAACCCATGTCAGTCTCTCACCACCTCCAGCTTCGATGAT	18	-	46050042-46050091	18q21.1g	"Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 10454587] [evidence NAS]; A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy [goid 16607] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 9774669] [evidence TAS]; Any process that stops, prevents or reduces the frequency, rate or extent of transcription [goid 16481] [pmid 10454587] [evidence NAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10866667] [evidence TAS]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [pmid 10866667] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12711603] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16432238] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12711603] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16432238] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with a methylated cytosine/guanine dinucleotide [goid 8327] [pmid 10454587] [evidence NAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	PCM1; RFT; CXXC3	PCM1; RFT; CXXC3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_12572	ILMN_12572	FLJ43980	NM_001004299.1	NM_001004299.1		124149	51972179	NM_001004299.1	FLJ43980	NP_001004299.1	ILMN_1741157	2350682	S	3432	GGAGAGCGACTTGTCAAAGGAAGACAAGAATGGAGGACACTTTCTGGAAC	16	-	45065711-45065742:45067179-45067196	16q11.2i	"Homo sapiens FLJ43980 protein (FLJ43980), mRNA."				DKFZp781D1722; MGC87661	DKFZp781D1722; MGC87661
Synthase and synthetase -> Synthase;Transferase -> Other transferase	Coenzyme and prosthetic group metabolism -> Porphyrin metabolism	Homo sapiens	RefSeq	ILMN_139153	ILMN_13894	ALAS2	NM_001037967.1	NM_001037967.1		212	83977439	NM_001037967.1	ALAS2	NP_001033056.1	ILMN_1708323	1230376	S	1488	TGCGCTTGGCACCCTCCCCCCACCACAGCCCTCAGATGATGGAAGATTTT	X	-	55056647-55056696	Xp11.21a	"Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 10727444] [evidence IDA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [pmid 14643893] [evidence IDA]; The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty-acid oxidation [goid 5759] [evidence IEA]"	"The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group [goid 6778] [evidence IEA]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [evidence IEA]; The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]; The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next [goid 33014] [evidence IEA]; The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group [goid 6778] [evidence IEA]; The regulation of the levels, transport, and metabolism of iron ions within a cell or between a cell and its external environment [goid 6879] [evidence IEA]; The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]; The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next [goid 33014] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level [goid 1666] [pmid 16234850] [evidence IDA]; The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group [goid 6778] [evidence IEA]; The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [evidence ISS]; The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors [goid 6783] [pmid 14643893] [evidence NAS]; The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]; The process by which a myeloid precursor cell acquires specializes features of an erythrocyte [goid 30218] [pmid 2050125] [evidence NAS]; The process by which a myeloid precursor cell acquires specializes features of an erythrocyte [goid 30218] [evidence ISS]; A homeostatic process involved in the maintenance of an internal equilibrium of oxygen within an organism or cell [goid 32364] [pmid 16234850] [evidence NAS]; The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next [goid 33014] [evidence IEA]; The chemical reactions and pathways resulting in the formation of hemoglobin, an oxygen carrying, conjugated protein containing four heme groups and globin [goid 42541] [evidence ISS]"	"Catalysis of the reaction: succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2 [goid 3870] [evidence IEA]; Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor) [goid 16769] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2 [goid 3870] [evidence IEA]; Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor) [goid 16769] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]; Catalysis of the reaction: succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2 [goid 3870] [pmid 14643893] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16234850] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 10727444] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 14643893] [evidence IPI]; Catalysis of the generalized reaction: acyl-carrier + reactant = acyl-reactant + carrier [goid 8415] [evidence IEA]; Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor) [goid 16769] [evidence IEA]; Interacting selectively with pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6 [goid 30170] [evidence IEA]"	ASB; ANH1; XLSA	ASB; ANH1; XLSA
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23104	ILMN_23104	ZNF69	NM_021915.1	NM_021915.1		7620	50512285	NM_021915.1	ZNF69	NP_068734.1	ILMN_2176882	2630379	S	1136	CTTCAACAGTAAAAGACTTGGCATTGGCTGGGCATGGTGGCTCACGCCTG	19	+	11885842-11885891	19p13.2a	"Homo sapiens zinc finger protein 69 (ZNF69), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence NAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence NAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC59928; Cos5	MGC59928; Cos5
Kinase -> Protein kinase;Transferase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Phosphate metabolism;Other metabolism	Homo sapiens	RefSeq	ILMN_4662	ILMN_4662	MAP4K4	NM_145686.2	NM_145686.2		9448	46249360	NM_145686.2	MAP4K4	NP_663719.1	ILMN_1681657	1050075	I	2006	TTTGCACACCACCATCTTCGTTCTCAGGACCCATGTCCACCTTCCCGCAG	2	+	101846799-101846848	2q11.2e	"Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 2, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"The process of introducing a phosphate group on to a protein [goid 6468] [pmid 9890973] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [pmid 9890973] [evidence IDA]; A series of reactions, mediated by protein kinases, which occurs as a result of a single trigger reaction or compound [goid 7243] [pmid 9890973] [evidence IDA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [pmid 9890973] [evidence IDA]; Modulates the rate of GTP hydrolysis by a small monomeric GTPase [goid 5083] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [pmid 9890973] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Modulates the rate of GTP hydrolysis by a small monomeric GTPase [goid 5083] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: ATP + a protein serine/threonine = ADP + protein serine/threonine phosphate [goid 4674] [evidence IEA]; Modulates the rate of GTP hydrolysis by a small monomeric GTPase [goid 5083] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	HGK; KIAA0687; NIK; FLJ10410; FLJ90111; FLJ20373; FLH21957	HGK; KIAA0687; NIK; FLJ10410; FLJ90111; FLJ20373; FLH21957
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6033	ILMN_6033	CGRRF1	NM_006568.2	NM_006568.2		10668	50726998	NM_006568.2	CGRRF1	NP_006559.1	ILMN_1681008	1940561	S	922	CCAGAATGGGACTGTGAACTGGGTACTCTTACCATGCAGACACACATGCC	14	+	54074683-54074732	14q22.2b	"Homo sapiens cell growth regulator with ring finger domain 1 (CGRRF1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [pmid 8968090] [evidence TAS]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The process by which the cell cycle is halted during one of the normal phases (G1, S, G2, M) [goid 7050] [evidence IEA]; Any process that stops, prevents or reduces the rate or extent of cell proliferation [goid 8285] [pmid 8968090] [evidence TAS]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	RNF197; CGR19	RNF197; CGR19
Transcription factor -> Homeobox transcription factor;Nucleic acid binding -> Other DNA-binding protein	Developmental processes -> Segment specification;Developmental processes -> Ectoderm development -> Neurogenesis	Homo sapiens	RefSeq	ILMN_15892	ILMN_15892	HOXA2	NM_006735.3	NM_006735.3		3199	37596298	NM_006735.3	HOXA2	NP_006726.1	ILMN_2107068	2060471	S	1619	CCTAACTCAACAACCCTTTATGTGATTCCTGAGAGCAGTATGAGGCCTGC	7	-	27106607-27106656	7p15.2a	"Homo sapiens homeobox A2 (HOXA2), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment [goid 1709] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process by which the anatomical structures of middle ear are generated and organized. Morphogenesis pertains to the creation of form. The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window) [goid 42474] [evidence IEA]; The process by which the anatomical structures of viscerocranium are generated and organized during the embryonic phase. Morphogenesis pertains to the creation of form. The viscerocranium is the part of the skull comprising the facial bones [goid 48703] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	HOX1K	HOX1K
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Protein metabolism and modification -> Protein complex assembly;Cell structure and motility	Homo sapiens	RefSeq	ILMN_18025	ILMN_27892	ADD1	NM_176801.1	NM_176801.1		118	29826324	NM_176801.1	ADD1	NP_789771.1	ILMN_1759252	5900685	A	3986	GGACACCGACTTGGGAGGACAGGTCCTGAATGTCCTTTCTCCAGTGTAAC	4	+	2901505-2901554	4p16.3a	"Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 4, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 10823823] [evidence EXP]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"		"Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 1840603] [evidence TAS]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ADDA; MGC44427; MGC3339	ADDA; MGC44427; MGC3339
		Homo sapiens	RefSeq	ILMN_183475	ILMN_183475	DRGX	NM_001080520.1	NM_001080520.1		644168	122937483	NM_001080520.1	DRGX	NP_001073989.1	ILMN_2245627	4200465	I	748	GGCAGCCAGGAAAAGACCTCTCCCACCAAGGAACAGAGCGAGGCAGAGAA	10	-	50244176-50244225	10q11.23a	"Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The characteristic movement of immature neurons from germinal zones to specific positions where they will reside as they mature [goid 1764] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state [goid 7399] [evidence IEA]; Generation of a long process of a neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells [goid 7409] [evidence IEA]; The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal [goid 9593] [evidence IEA]; The series of events in which a temperature stimulus (hot or cold) is received and converted into a molecular signal [goid 16048] [evidence IEA]; The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal [goid 50954] [evidence IEA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]"	DRG11; PRRXL1	DRG11; PRRXL1
Chaperone	Protein metabolism and modification -> Protein complex assembly;Other metabolism	Homo sapiens	RefSeq	ILMN_171012	ILMN_171012	ATPAF1	NM_001042546.1	NM_001042546.1		64756	110349781	NM_001042546.1	ATPAF1	NP_001036011.1	ILMN_2395055	5810673	A	3798	CCCCCACTAGACTGTGAGCTCCTTGAGGGCCAGGACTTATCTCTGTTCGC	1	-	46871075-46871124	1p33d	"Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [evidence IEA]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [evidence IEA]"		MGC88060; FLJ22351; ATP11p; ATP11	FLJ22351; ATP11p; MGC88060; ATP11
Receptor -> Ligand-gated ion channel -> GABA receptor;Ion channel -> Ligand-gated ion channel -> GABA receptor	Signal transduction -> Cell communication -> Ligand-mediated signaling;Transport -> Ion transport -> Anion transport;Neuronal activities -> Synaptic transmission -> Nerve-nerve synaptic transmission	Homo sapiens	RefSeq	ILMN_28262	ILMN_28262	GABRG2	NM_198904.1	NM_198904.1		2566	38788154	NM_198904.1	GABRG2	NP_944494.1	ILMN_1800270	2120600	I	3783	AGCTGCTCCCTGTCTATGTATTTGGAAACCTTTTCACAAAGGGAATTGCC	5	+	161515018-161515067	5q34b	"Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 2538761] [evidence TAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to a cell surface receptor [goid 7214] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to a cell surface receptor [goid 7214] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of chloride into, out of, within or between cells [goid 6821] [evidence IEA]; The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to a cell surface receptor [goid 7214] [pmid 2538761] [evidence TAS]"	"Combining with the amino acid gamma-aminobutyric acid (GABA, 4-aminobutyrate) to initiate a change in cell activity. GABA-A receptors function as chloride channels [goid 4890] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Combining with a neurotransmitter to initiate a change in cell activity [goid 30594] [evidence IEA]; Combining with the amino acid gamma-aminobutyric acid (GABA, 4-aminobutyrate) to initiate a change in cell activity. GABA-A receptors function as chloride channels [goid 4890] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Combining with a neurotransmitter to initiate a change in cell activity [goid 30594] [evidence IEA]; Combining with the amino acid gamma-aminobutyric acid (GABA, 4-aminobutyrate) to initiate a change in cell activity. GABA-A receptors function as chloride channels [goid 4890] [evidence IEA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Catalysis of facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5254] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9892355] [evidence IPI]; Combining with benzodiazepines, a class of drugs with hypnotic, anxiolytic, anticonvulsive, amnestic and myorelaxant properties, to initiate a change in cell activity [goid 8503] [pmid 2538761] [evidence TAS]; Interacting selectively with chloride ions (Cl-) [goid 31404] [evidence IEA]"	CAE2; ECA2; GEFSP3	ECA2; GEFSP3; CAE2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27759	ILMN_27759	C16ORF84	NM_001012759.1	NM_001012759.1		348180	61676105	NM_001012759.1	C16orf84	NP_001012777.1	ILMN_2382488	2690719	A	1135	ACTGTGTACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCC	16	+	87308126-87308136:87308292-87308330	16q24.3a	"Homo sapiens chromosome 16 open reading frame 84 (C16orf84), transcript variant 1, mRNA."				MGC148064; MGC148063; MGC131681	MGC148064; MGC148063; MGC131681
Nucleic acid binding -> Helicase -> DNA helicase	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism	Homo sapiens	RefSeq	ILMN_3547	ILMN_3547	RECQL5	NM_001003715.2	NM_001003715.2		9400	148612814	NM_001003715.2	RECQL5	NP_001003715.1	ILMN_1653340	150093	A	1340	GCCACTATCATGGCCTTTGATGCCCTGGTGACCTTCTGTGAAGAACTGGG	17	-	71158393-71158393:71158861-71158909	17q25.1c	"Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10710432] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10710432] [evidence NAS]"	"The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [pmid 9878247] [evidence TAS]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [evidence IEA]; Any process by which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction [goid 6310] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a DNA helix [goid 3678] [pmid 10710432] [evidence NAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the unwinding of a DNA or RNA helix [goid 8026] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the unwinding of a DNA or RNA helix [goid 8026] [evidence IEA]"	FLJ90603; RECQ5	FLJ90603; RECQ5
Phosphatase -> Nucleotide phosphatase	Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism	Homo sapiens	RefSeq	ILMN_6137	ILMN_6137	ENTPD3	NM_001248.1	NM_001248.1		956	4557424	NM_001248.1	ENTPD3	NP_001239.1	ILMN_2087941	4850504	S	2584	CCCAGATCATAGACCTCTCTGCATAGTAGTCATAGGTCTTGACTTTGGGG	3	+	40444922-40444971	3p22.1c	"Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a nucleoside diphosphate, a glycosamine consisting of a base linked to a deoxyribose or ribose sugar esterified with diphosphate on its glycose moiety [goid 9134] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a nucleoside triphosphate, a glycosamine consisting of a base linked to a deoxyribose or ribose sugar esterified with triphosphate on its glycose moiety [goid 9143] [evidence IEA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: a nucleoside diphosphate + H2O = a nucleotide + phosphate [goid 17110] [evidence IEA]; Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate [goid 17111] [evidence IEA]"	HB6; NTPDase-3; CD39L3	CD39L3; HB6; NTPDase-3
Select regulatory molecule -> G-protein -> Small GTPase	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling	Homo sapiens	RefSeq	ILMN_1792	ILMN_1792	ARFRP1	NM_003224.2	NM_003224.2		10139	33466360	NM_003224.2	ARFRP1	NP_003215.1	ILMN_1703989	6110520	S	1391	TGATGCAAAAAGCTGAGGGGGCCTGCTGGGAGTGGCTGTTTTTATGCCCC	20	-	61801552-61801601	20q13.33e	"Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 8530503] [evidence TAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8530503] [evidence TAS]; Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals [goid 7264] [evidence IEA]; A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm [goid 7369] [evidence IEA]"	"Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]; Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [pmid 8530503] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11438518] [evidence IPI]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	ARL18; Arp1; ARP	ARL18; Arp1; ARP
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3024	ILMN_3024	RNF20	NM_019592.5	NM_019592.5		56254	34878776	NM_019592.5	RNF20	NP_062538.5	ILMN_1710758	2630619	S	3736	AGAGGTTGAGTCAGGACTGAGCTGGTGAAGAAATCTTGTGGGTATTCTGG	9	+	103365243-103365292	9q31.1b	"Homo sapiens ring finger protein 20 (RNF20), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information [goid 5694] [evidence IEA]"	"The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin moiety, or multiple ubiquitin moieties, to the protein [goid 6511] [evidence IEA]; The alteration of DNA or protein in chromatin, which may result in changing the chromatin structure [goid 16568] [evidence IEA]"	"Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6 [goid 16874] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	FLJ20382; KIAA2779; FLJ11189; BRE1A; MGC129667; MGC129668	FLJ20382; KIAA2779; FLJ11189; BRE1A; MGC129667; MGC129668
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23953	ILMN_23953	OR52E4	NM_001005165.1	NM_001005165.1		390081	52353251	NM_001005165.1	OR52E4	NP_001005165.1	ILMN_1734306	5900458	S	824	TTCTTTTGGCTAACCTGTATGTGGTTGTCCCACCTGCCCTTAACCCTGTC	11	+	5862922-5862971	11p15.4c	"Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	OR11-55	OR11-55
Molecular function unclassified	Developmental processes -> Mesoderm development -> Heart development	Homo sapiens	RefSeq	ILMN_25037	ILMN_25037	BVES	NM_007073.3	NM_007073.3		11149	59939903	NM_007073.3	BVES	NP_009004.2	ILMN_1676294	6900682	I	27	TCGGCCCCACCGAGTGCCGGCTCCCGCGCTCTGCGGCGGCAAGCCCCTTG	6	-	105688156-105688156:105691161-105691209	6q21a	"Homo sapiens blood vessel epicardial substance (BVES), transcript variant 4, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10441744] [evidence NAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work [goid 7517] [pmid 10441744] [evidence NAS]"		POPDC1; MGC42413; POP1; HBVES	POPDC1; MGC42413; POP1; HBVES
Transfer/carrier protein;Miscellaneous function -> Other miscellaneous function protein	Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Cholesterol metabolism	Homo sapiens	RefSeq	ILMN_662	ILMN_662	OSBPL1A	NM_018030.3	NM_018030.3		114876	19718745	NM_018030.3	OSBPL1A	NP_060500.3	ILMN_1697952	6560605	I	419	CCGGAGCCAGGGGCAGGCTGCGCAAAGGTGACTTAGGGAGACCTTGCGGG	18	-	20105726-20105775	18q11.2c	"Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant OSBPL1A, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [pmid 11279184] [evidence IC ]"	"The directed movement of lipids into, out of, within or between cells. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent [goid 6869] [evidence IEA]; The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus [goid 8202] [evidence IEA]; The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues [goid 8203] [pmid 10588946] [evidence NAS]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [pmid 11279184] [evidence NAS]"	"Interacting selectively with phospholipids, a class of lipids containing phosphoric acid as a mono- or diester [goid 5543] [pmid 11279184] [evidence NAS]"	ORP-1; FLJ10217; ORP1; OSBPL1B	ORP-1; FLJ10217; ORP1; OSBPL1B
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8894	ILMN_8894	FLJ36208	NM_176677.1	NM_176677.1		283948	60593055	NM_176677.1	FLJ36208	NP_788850.1	ILMN_1684312	630553	S	1581	GGCTGAACCCTGGATGCCTTTTCTTCCGCGTCCCCATGAATGAAAGCTGT	16	+	559033-559082	16p13.3f	"Homo sapiens hypothetical protein FLJ36208 (FLJ36208), mRNA."
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_138278	ILMN_173053	FAM69B	XM_001130258.1	XM_001130258.1		138311	113421256	XM_001130258.1	FAM69B	XP_001130258.1	ILMN_1757440	3450114	A	1531	GATTCCAGCACCACAGACATGAGACCCCAGCTCGGAGCAAAGGCGGACAT				9q34.3e	"PREDICTED: Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_26065	ILMN_173053	FAM69B	XM_001130258.1	XM_001130258.1		138311	113421256	XM_001130258.1	FAM69B	XP_001130258.1	ILMN_1718446	4290152	A	1367	AGAAGATCTCCAACACCAAGTACTCTTGATGGGGCAGTGAGGGGCCTGGC				9q34.3e	"PREDICTED: Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"
Transcription factor -> Other transcription factor;Nucleic acid binding -> Other nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA recombination;Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription initiation	Homo sapiens	RefSeq	ILMN_27196	ILMN_27196	RBPJL	NM_014276.2	NM_014276.2		11317	34577080	NM_014276.2	RBPJL	NP_055091.2	ILMN_1798870	6550292	S	2414	ACTTCTCCCACAGGCCCAGCAGGACGCAGTCCTGAGGATCAGGGATTCTA	20	+	43379801-43379850	20q13.12b	"Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 9929984] [evidence TAS]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 9929984] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	SUHL; RBPSUHL; SUH; RBP-L	SUHL; RBPSUHL; SUH; RBP-L
Nucleic acid binding;Hydrolase -> Deaminase	Nucleoside, nucleotide and nucleic acid metabolism -> Other nucleoside, nucleotide and nucleic acid metabolism;Neuronal activities	Homo sapiens	RefSeq	ILMN_30004	ILMN_30004	ADARB1	NM_001112.2	NM_001112.2		104	75709167	NM_001112.2	ADARB1	NP_001103.1	ILMN_1697628	2320228	I	5165	CCGTGAGACAGATCGGGGACCTTAGCACTTTAATCCCTCCCTTCTGAGCG	21	+	45469186-45469235	21q22.3e	"Homo sapiens adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) (ADARB1), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8995285] [evidence IDA]"	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules [goid 6396] [pmid 9149227] [evidence IDA]; Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; Any base modification or substitution events that result in alterations in the coding potential or structural properties of RNAs as a result of changes in the base-pairing properties of the modified ribonucleoside(s) [goid 16553] [pmid 9149227] [evidence IC ]	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9111310] [evidence IDA]; Interacting selectively with double-stranded RNA [goid 3725] [pmid 8995285] [evidence IDA]; Interacting selectively with double-stranded RNA [goid 3725] [evidence IEA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3, in a double-stranded RNA molecule [goid 3726] [pmid 8995285] [evidence IDA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3, in a double-stranded RNA molecule [goid 3726] [pmid 9149227] [evidence IDA]; Interacting selectively with pre-messenger RNA (pre-mRNA) or messenger RNA (mRNA) [goid 3729] [pmid 9149227] [evidence IC ]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ADAR2a; ADAR2; DRABA2; DRADA2; ADAR2a-L1; ADAR2a-L2; ADAR2g; ADAR2c; RED1; ADAR2a-L3; ADAR2b; ADAR2d	ADAR2a; ADAR2; DRABA2; DRADA2; ADAR2a-L1; ADAR2a-L2; ADAR2g; ADAR2c; RED1; ADAR2a-L3; ADAR2b; ADAR2d
Nucleic acid binding;Hydrolase -> Deaminase	Nucleoside, nucleotide and nucleic acid metabolism -> Other nucleoside, nucleotide and nucleic acid metabolism;Neuronal activities	Homo sapiens	RefSeq	ILMN_4112	ILMN_30004	ADARB1	NM_001112.2	NM_001112.2		104	75709167	NM_001112.2	ADARB1	NP_001103.1	ILMN_1679797	7330097	A	6758	TACACCACACGTTACAACTGCATGAGCTTCCTCTCGCACAAGACCAGCTG	21	+	45470779-45470828	21q22.3e	"Homo sapiens adenosine deaminase, RNA-specific, B1 (RED1 homolog rat) (ADARB1), transcript variant 1, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 8995285] [evidence IDA]"	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules [goid 6396] [pmid 9149227] [evidence IDA]; Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide [goid 6397] [evidence IEA]; Any base modification or substitution events that result in alterations in the coding potential or structural properties of RNAs as a result of changes in the base-pairing properties of the modified ribonucleoside(s) [goid 16553] [pmid 9149227] [evidence IC ]	"Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 9111310] [evidence IDA]; Interacting selectively with double-stranded RNA [goid 3725] [pmid 8995285] [evidence IDA]; Interacting selectively with double-stranded RNA [goid 3725] [evidence IEA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3, in a double-stranded RNA molecule [goid 3726] [pmid 8995285] [evidence IDA]; Catalysis of the reaction: adenosine + H2O = inosine + NH3, in a double-stranded RNA molecule [goid 3726] [pmid 9149227] [evidence IDA]; Interacting selectively with pre-messenger RNA (pre-mRNA) or messenger RNA (mRNA) [goid 3729] [pmid 9149227] [evidence IC ]; Catalysis of the reaction: adenosine + H2O = inosine + NH3 [goid 4000] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ADAR2a; ADAR2; DRABA2; DRADA2; ADAR2a-L1; ADAR2a-L2; ADAR2g; ADAR2c; RED1; ADAR2a-L3; ADAR2b; ADAR2d	ADAR2a; ADAR2; DRABA2; DRADA2; ADAR2a-L1; ADAR2a-L2; ADAR2g; ADAR2c; RED1; ADAR2a-L3; ADAR2b; ADAR2d
Transporter -> Other transporter	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_10997	ILMN_173943	SLC16A8	NM_013356.2	NM_013356.2		23539	114796625	NM_013356.2	SLC16A8	NP_037488.2	ILMN_1731165	580500	S	1769	TTGATCCCCTGGGTGTCTGGGAACTGCCTCCCTCATCTGTGCCCCAAGTT	22	-	36804167-36804216	22q13.1b	"Homo sapiens solute carrier family 16, member 8 (monocarboxylic acid transporter 3) (SLC16A8), mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 10493836] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10493836] [evidence TAS]"	"The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The directed movement of organic anions into, out of, within or between cells. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage [goid 15711] [evidence IEA]; The directed movement of lactate into, out of, within or between cells. Lactate is 2-hydroxypropanoate, CH3-CHOH-COOH; L(+)-lactate is formed by anaerobic glycolysis in animal tissues, and DL-lactate is found in sour milk, molasses and certain fruit juices [goid 15727] [pmid 10493836] [evidence TAS]"	"Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells [goid 5215] [evidence IEA]; Catalysis of the transfer of lactate from one side of the membrane to the other. Lactate is 2-hydroxypropanoate, CH3-CHOH-COOH; L(+)-lactate is formed by anaerobic glycolysis in animal tissues, and DL-lactate is found in sour milk, molasses and certain fruit juices [goid 15129] [pmid 10493836] [evidence TAS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA]; Catalysis of the movement of a monocarboxylate, any compound containing a single carboxyl group (COOH or COO-), by uniport, symport or antiport across a membrane by a carrier-mediated mechanism [goid 15355] [evidence IEA]"	MCT3; REMP	MCT3; REMP
		Homo sapiens	RefSeq	ILMN_36531	ILMN_179313	PPP1R1C	NM_001080545.1	NM_001080545.1		151242	122937385	NM_001080545.1	PPP1R1C	NP_001074014.1	ILMN_1808217	3940561	A	315	CAGTTTGCCGTGCCTGTATTCCAGAGTCAGATTGCACCTGAAGCAGCAGA	2	+	182559110-182559159	2q31.3b	"Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from proteins [goid 4864] [evidence IEA]"
		Homo sapiens	RefSeq	ILMN_36904	ILMN_179313	PPP1R1C	NM_001080545.1	NM_001080545.1		151242	122937385	NM_001080545.1	PPP1R1C	NP_001074014.1	ILMN_1797302	4860017	A	438	GACAAGAGGGGGCCCAACACACAAGGGGAATTACAGAATGCATCCCCTAA	2	+	182634422-182634451:182636703-182636722	2q31.3b	"Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from proteins [goid 4864] [evidence IEA]"
		Homo sapiens	RefSeq	ILMN_36841	ILMN_179313	PPP1R1C	NM_001080545.1	NM_001080545.1		151242	122937385	NM_001080545.1	PPP1R1C	NP_001074014.1	ILMN_1667753	5560403	I	374	GAAAAGAAGACCTACACCAGCATCACTTGTGATTCTCAATGAGCATAACC	2	+	182560816-182560865	2q31.3b	"Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from proteins [goid 4864] [evidence IEA]"
Membrane traffic protein -> Membrane traffic regulatory protein;Membrane traffic protein -> Other membrane traffic protein	Intracellular protein traffic;Transport	Homo sapiens	RefSeq	ILMN_137196	ILMN_10030	EXOC5	NM_006544.3	NM_006544.3		10640	82546833	NM_006544.3	EXOC5	NP_006535.1	ILMN_1788625	4250181	S	6887	CACACTCGCCCATTTTCTAAGTGGTTTAGAAGGTTGCAGTCTGCCTCACC	14	-	56740521-56740570	14q23.1a	"Homo sapiens exocyst complex component 5 (EXOC5), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 9119050] [evidence TAS]"	"A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell. This is the process whereby most molecules are secreted from eukaryotic cells [goid 6887] [evidence IEA]; The directed movement of substances from the Golgi to other parts of the cell, including organelles and the plasma membrane, mediated by small transport vesicles [goid 6892] [pmid 9119050] [evidence TAS]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The initial attachment of a transport vesicle membrane to the target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane. Docking requires only that the two membranes come close enough for these proteins to interact and adhere [goid 48278] [evidence IEA]"		HSEC10; DKFZp666H126; PRO1912; SEC10P; SEC10L1; SEC10	HSEC10; DKFZp666H126; PRO1912; SEC10P; SEC10L1; SEC10
Extracellular matrix	Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_31891	ILMN_31891	ANGPTL4	NM_001039667.1	NM_001039667.1		51129	89264695	NM_001039667.1	ANGPTL4	NP_001034756.1	ILMN_2386444	2450592	A	1422	GACAGAGAAGAAGACCACGACTGGAGAAGCCCCCTTTCTGAGTGCAGGGG	19	+	8344890-8344939	19p13.2d	"Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 3, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 10698685] [evidence IDA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level [goid 1666] [pmid 12707035] [evidence NAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of cell death by apoptosis [goid 43066] [pmid 10698685] [evidence IDA]; Any process that activates or increases angiogenesis [goid 45766] [pmid 11953136] [evidence TAS]; Any process that stops or reduces the activity of the enzyme lipoprotein lipase [goid 51005] [evidence ISS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Stops, prevents or reduces the activity of an enzyme [goid 4857] [evidence ISS]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]; Interacting selectively with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function [goid 5102] [evidence IEA]"	PGAR; NL2; HFARP; pp1158; ANGPTL2; ARP4; FIAF	HFARP; ANGPTL2; PGAR; NL2; pp1158; ARP4; FIAF
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2728	ILMN_2728	CDRT1	NM_006382.1	NM_006382.1		374286	5453580	NM_006382.1	CDRT1	NP_006373.1	ILMN_2297315	5090678	I	1204	GTAGAGGCAGCACTGATCTGGCTGAATTCCTGGATATGGGGAATCCTCGG	17	-	15432730-15432779	17p12a	"Homo sapiens CMT1A duplicated region transcript 1 (CDRT1), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	SM25H2; HREP	SM25H2; HREP
Nucleic acid binding -> Nuclease -> Endodeoxyribonuclease	Biological process unclassified	Homo sapiens	RefSeq	ILMN_8594	ILMN_8594	GEN1	NM_182625.2	NM_182625.2		348654	47271492	NM_182625.2	GEN1	NP_872431.2	ILMN_2206282	1580044	S	2836	GTACTATCAGCAATAGCAGAGACAGAGGGAAGGTATCTAGTTCATGTGTG	2	+	17826723-17826772	2p24.2b	"Homo sapiens Gen homolog 1, endonuclease (Drosophila) (GEN1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway [goid 6281] [evidence IEA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks [goid 4519] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	FLJ40869; DKFZp781F0986; Gen	FLJ40869; DKFZp781F0986; Gen
Oxidoreductase -> Dehydrogenase	Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism	Homo sapiens	RefSeq	ILMN_3439	ILMN_3439	IMPDH2	NM_000884.2	NM_000884.2		3615	66933015	NM_000884.2	IMPDH2	NP_000875.2	ILMN_1705737	4590026	S	1385	CAGTGAAGCTGACAAAATCAAAGTGGCCCAGGGAGTGTCTGGTGCTGTGC	3	-	49037192-49037239:49037333-49037334	3p21.31d	"Homo sapiens IMP (inosine monophosphate) dehydrogenase 2 (IMPDH2), mRNA."	That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 7903306] [evidence EXP]	"The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The expansion of a lymphocyte population by cell division [goid 46651] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The expansion of a lymphocyte population by cell division [goid 46651] [evidence IEA]; The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate moiety at either the 3' or 5'-hydroxyl group of its glycose moiety [goid 6164] [evidence IEA]; The chemical reactions and pathways resulting in the formation of GMP, guanosine monophosphate [goid 6177] [evidence IEA]; The expansion of a lymphocyte population by cell division [goid 46651] [evidence IEA]; The process of removal or addition of one or more electrons with or without the concomitant removal or addition of a proton or protons [goid 55114] [evidence IEA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: inosine 5'-phosphate + NAD+ + H2O = xanthosine 5'-phosphate + NADH + H+ [goid 3938] [evidence IEA]; Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: inosine 5'-phosphate + NAD+ + H2O = xanthosine 5'-phosphate + NADH + H+ [goid 3938] [evidence IEA]; Catalysis of the reaction: inosine 5'-phosphate + NAD+ + H2O = xanthosine 5'-phosphate + NADH + H+ [goid 3938] [pmid 7903306] [evidence EXP]; Catalysis of the reaction: inosine 5'-phosphate + NAD+ + H2O = xanthosine 5'-phosphate + NADH + H+ [goid 3938] [pmid 1969416] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	IMPD2; IMPDH-II	IMPD2; IMPDH-II
Nucleic acid binding	Signal transduction -> Intracellular signaling cascade -> Other intracellular signaling cascade	Homo sapiens	RefSeq	ILMN_16725	ILMN_16725	DEPDC1B	NM_018369.1	NM_018369.1		55789	23510330	NM_018369.1	DEPDC1B	NP_060839.1	ILMN_2103685	2370441	S	2328	CTTTGGGTACCCTTAGACCTCTGATTCTAAGTCAAATGCAAATGGGTTAA	5	-	59928585-59928634	5q12.1b	"Homo sapiens DEP domain containing 1B (DEPDC1B), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	A series of reactions within the cell that occur as a result of a single trigger reaction or compound [goid 7242] [evidence IEA]	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]"	XTP1; BRCC3; FLJ11252	XTP1; BRCC3; FLJ11252
Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Signal transduction -> Intracellular signaling cascade -> NO mediated signal transduction;Neuronal activities -> Synaptic transmission -> Neuromuscular synaptic transmission;Muscle contraction;Cell structure and motility	Homo sapiens	RefSeq	ILMN_9450	ILMN_27939	DTNB	NM_021907.3	NM_021907.3		1838	37577101	NM_021907.3	DTNB	NP_068707.1	ILMN_1798819	770504	A	2131	TTAGCAGAGGAGCCGGACACAGAGGAAGCTCAGGCACAGAGGACGAGGAG	2	-	25453909-25453926:25455663-25455691:25455692-25455694	2p23.3c	"Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]"		Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9395493] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	MGC17163; MGC57126	MGC17163; MGC57126
		Homo sapiens	RefSeq	ILMN_38165	ILMN_38165	LOC653746	XM_933630.1	XM_933630.1		653746	89028158	XM_933630.1	LOC653746	XP_938723.1	ILMN_1811362	540609	S	123	GATAGACACCCACCAGGGGCTCGGAGCGCCGCGCTCCGGGGCTGGAGGCA	8	-	82186636-82186683:82186786-82186787		"PREDICTED: Homo sapiens similar to phosphoprotein associated with glycosphingolipid microdomains 1 (LOC653746), mRNA."
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_4259	ILMN_4259	ZNF771	NM_016643.1	NM_016643.1		51333	7706191	NM_016643.1	ZNF771	NP_057727.1	ILMN_1708632	3840278	S	1839	GAAGTCAAGAGTTTGAGATCAGCCTGGAGAACAAAGTGAGACCCCCATCT	16	+	30338176-30338225	16p11.2c	"Homo sapiens zinc finger protein 771 (ZNF771), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	DSC43	DSC43
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_16926	ILMN_15518	FPR2	NM_001005738.1	NM_001005738.1		2358	54112387	NM_001005738.1	FPR2	NP_001005738.1	ILMN_1740875	4150543	A	1136	CCTACCCTAATGCCAGTTCCAGCTTCATCTACCCTTGAGTCATATTGAGG	19	+	56964814-56964863	19q13.33e	"Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 9054386] [evidence TAS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9054386] [evidence TAS]"	"Any process involved in the controlled movement of a cell [goid 6928] [pmid 1374236] [evidence TAS]; The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 9054386] [evidence TAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 9054386] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9054386] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 9054386] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with an N-formyl peptide to initiate a change in cell activity [goid 4982] [pmid 1374236] [evidence TAS]	FPR2A; FMLPX; HM63; FPRH2; LXA4R; FPRH1; ALXR; FMLP-R-II	FPR2A; FMLPX; HM63; FPRH2; LXA4R; FPRH1; ALXR; FMLP-R-II
Transcription factor -> Other transcription factor	Immunity and defense -> Stress response;Developmental processes -> Mesoderm development	Homo sapiens	RefSeq	ILMN_183192	ILMN_183192	NFE2L3	NM_004289.5	NM_004289.5		9603	46358355	NM_004289.5	NFE2L3	NP_004280.4	ILMN_2049766	5820035	S	2615	CCCAGTAAGACTTTCCATCTTGGCAGCCATCCTTTTTAAGAGTAAGTTGG	7	+	26192199-26192248	7p15.2b	"Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 10037736] [evidence TAS]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10037736] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 10037736] [evidence TAS]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]"	NRF3	NRF3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_29437	ILMN_29437	BPY2B	NM_001002760.1	NM_001002760.1		442867	50959134	NM_001002760.1	BPY2B	NP_001002760.1	ILMN_2217056	5570176	S	900	ATACCCAGCTTCAGATACCATGCAATAATACAACTATCATACCTGGACCC	Y	+	25194436-25194485	Yq11.223e	"Homo sapiens basic charge, Y-linked, 2B (BPY2B), mRNA."				VCY2B; VCY2; BPY2	VCY2B; VCY2; BPY2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_137162	ILMN_41608	SDCCAG3	NM_001039708.1	NM_001039708.1		10807	89353282	NM_001039708.1	SDCCAG3	NP_001034797.1	ILMN_1803997	7040553	S	1898	GTCCAGATGTGCCTCTTTGGCTGGGGGTTCTGGTGGACGTTTCAAGTGGC	9	-	138416407-138416456	9q34.3d	"Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"			NY-CO-3	NY-CO-3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_41608	ILMN_41608	SDCCAG3	NM_001039708.1	NM_001039708.1		10807	89353282	NM_001039708.1	SDCCAG3	NP_001034797.1	ILMN_2380850	60706	A	1408	TTGATCGCAAGAGTCCAGTGTCGTGCCCTCAGCCAGTTCTTGGCCACCAC	9	-	138416897-138416946	9q34.3d	"Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 3, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"			NY-CO-3	NY-CO-3
Receptor -> Ligand-gated ion channel -> Acetylcholine receptor;Ion channel -> Ligand-gated ion channel -> Acetylcholine receptor	Signal transduction -> Cell communication;Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Nerve-nerve synaptic transmission;Sensory perception	Homo sapiens	RefSeq	ILMN_10356	ILMN_164549	CHRNA2	NM_000742.1	NM_000742.1		1135	4502822	NM_000742.1	CHRNA2	NP_000733.1	ILMN_1698849	4210059	S	2539	TCATTCCTCTCCTTCCTTGCTGCAAAATGGCTCTGCACCAGCCGGCCCCC	8	-	27374259-27374308	8p21.2a	"Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A protein complex that acts as an acetylcholine receptor, and forms a transmembrane channel through which ions may pass in response to ligand binding. The complex is a homo- or heteropentamer of subunits that are members of a neurotransmitter receptor superfamily [goid 5892] [pmid 8906617] [evidence IDA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 8906617] [evidence NAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [pmid 8906617] [evidence NAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 8906617] [evidence IDA]"	 [goid 4889] [pmid 8906617] [evidence IDA]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Combining with acetylcholine to initiate a change in cell activity [goid 15464] [pmid 8906617] [evidence IDA]
Molecular function unclassified	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_17606	ILMN_17606	YIPF5	NM_001024947.1	NM_001024947.1		81555	68226421	NM_001024947.1	YIPF5	NP_001020118.1	ILMN_1810738	4180243	I	183	CTGGTCCTTTCGCTCAGACCCTCGCTCTCATTCAAGCCCTTGCCCTGACG	5	-	143530155-143530204	5q32a	"Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; The continuous network of membranes encompassing the outer nuclear membrane and the endoplasmic reticulum [goid 42175] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell [goid 16192] [evidence IEA]"		SMAP-5; YIP1A; DKFZp313L2216; SMAP5; SB140; FinGER5	YIP1A; DKFZp313L2216; SB140; FinGER5; SMAP-5; SMAP5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2483	ILMN_2483	MCM10	NM_018518.3	NM_018518.3		55388	33383234	NM_018518.3	MCM10	NP_060988.3	ILMN_2413899	6580685	A	3771	ACCACAGCAAAGGTTTCATTCAGGAGATTCTTCCATCTGGGCAACCTGGT	10	+	13292361-13292410	10p13e	"Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 2, mRNA."				PRO2249; MGC126776; CNA43	PRO2249; CNA43; MGC126776
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2483	ILMN_2483	MCM10	NM_018518.3	NM_018518.3		55388	33383234	NM_018518.3	MCM10	NP_060988.3	ILMN_2413898	7570181	A	4426	AGTTGTATAATATGCTTGTAAAGGCTGAGGGTGAGCTGTATCTGGATGCC	10	+	13293016-13293065	10p13e	"Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 2, mRNA."				PRO2249; MGC126776; CNA43	PRO2249; CNA43; MGC126776
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22153	ILMN_22153	TTRAP	NM_016614.2	NM_016614.2		51567	23510347	NM_016614.2	TTRAP	NP_057698.2	ILMN_2183216	3310161	S	1708	GGCAAAGTTAAGCTTGATGATGGTTAAAATCGGTTTGATAGCACCATGGG	6	-	24758351-24758400	6p22.2b	"Homo sapiens TRAF and TNF receptor associated protein (TTRAP), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell [goid 7166] [pmid 10764746] [evidence TAS]	The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [pmid 10764746] [evidence TAS]	EAP2; AD022; MGC111021; MGC9099; dJ30M3.3; RP1-30M3.3	EAP2; AD022; MGC111021; MGC9099; dJ30M3.3; RP1-30M3.3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_168076	ILMN_168076	MSL2L1	NM_018133.2	NM_018133.2		55167	38570120	NM_018133.2	MSL2L1	NP_060603.2	ILMN_2171102	6550014	S	4501	TGGGAGGTTGGCAATATAGACAAAGTGGAAATCATTAGTATGTGAGGGCC	3	-	137350595-137350644	3q22.2b	"Homo sapiens male-specific lethal 2-like 1 (Drosophila) (MSL2L1), mRNA."			Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	RNF184; FLJ10546; KIAA1585; MSL-2	KIAA1585; RNF184; FLJ10546; MSL-2
Nucleic acid binding;Select calcium binding protein -> Calmodulin related protein;Select calcium binding protein -> Annexin	Homeostasis -> Calcium ion homeostasis	Homo sapiens	RefSeq	ILMN_29645	ILMN_29645	NUCB1	NM_006184.3	NM_006184.3		4924	39725676	NM_006184.3	NUCB1	NP_006175.2	ILMN_1722634	6520026	S	2176	CTGACACTGCTCCGCATCCTGCTGTGTGTCCTGTTCCATGTTCCGGTTCC	19	+	54118266-54118315	19q13.33a	"Homo sapiens nucleobindin 1 (NUCB1), mRNA."	"That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 1520323] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi transport [goid 5793] [pmid 15308636] [evidence IDA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [pmid 1520323] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	NUC; FLJ40471; DKFZp686A15286	DKFZp686A15286; NUC; FLJ40471
Kinase -> Protein kinase	Protein metabolism and modification -> Protein modification -> Protein phosphorylation;Signal transduction	Homo sapiens	RefSeq	ILMN_21257	ILMN_21257	TRIB3	NM_021158.3	NM_021158.3		57761	41327717	NM_021158.3	TRIB3	NP_066981.2	ILMN_1787815	1990630	S	2258	CATGGGGCTTCTGACCTGAGCACCAAGGTTGAGGGACAGGATTAGGCAGG	20	+	326009-326058	20p13f	"Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence ISS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of protein kinase activity [goid 6469] [evidence ISS]; A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle the cell and result in cell death. Apoptosis begins internally with condensation and subsequent fragmentation of the cell nucleus (blebbing) while the plasma membrane remains intact. Other characteristics of apoptosis include DNA fragmentation and the exposure of phosphatidyl serine on the cell surface [goid 6915] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation) [goid 6950] [evidence IEA]; Any process that modulates the frequency, rate or extent of MAP kinase activity [goid 43405] [pmid 15299019] [evidence IDA]; The process of introducing a phosphate group on to a protein [goid 6468] [evidence IEA]"	"The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [evidence ISS]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein [goid 4860] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12743605] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [evidence ISS]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 15299019] [evidence IPI]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [evidence ISS]; Interacting selectively with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate [goid 19901] [pmid 15299019] [evidence IPI]; The function of a transcription cofactor that represses transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3714] [evidence IEA]; Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP [goid 4672] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]"	SKIP3; NIPK; SINK; TRB3; C20orf97	TRB3; C20orf97; SKIP3; NIPK; SINK
Select regulatory molecule -> G-protein modulator -> Other G-protein modulator	Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_10507	ILMN_10507	ARHGAP8	NM_181335.2	NM_181335.2		23779	66346659	NM_181335.2	ARHGAP8	NP_851852.2	ILMN_2342851	60551	A	103	GTGCTGGGTGCAGTGAGGAAGAGGCCCTCGGTGGTGCCCATGGCTGGCCA	22	+	43561033-43561071:43561072-43561082	22q13.31b	"Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]"	"Increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP [goid 5096] [evidence IEA]"	PP610; FLJ20185; BPGAP1	PP610; FLJ20185; BPGAP1
Nucleic acid binding -> Ribosomal protein	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_13541	ILMN_181912	MRPL4	NM_146388.1	NM_146388.1		51073	22547139	NM_146388.1	MRPL4	NP_666500.1	ILMN_1681230	610553	I	1820	CCGGGCTGCTGGGCTCACAAAGTCACACTAGACCACAGTGACGATCTCTG	19	+	10231152-10231201	19p13.2c	"Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [evidence IEA]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]"	The chemical reactions and pathways resulting in the formation of a protein. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein [goid 6412] [evidence IEA]	The action of a molecule that contributes to the structural integrity of the ribosome [goid 3735] [evidence IEA]	MGC16367; MGC2681; CGI-28; L4mt	MGC16367; MGC2681; CGI-28; L4mt
Kinase -> Carbohydrate kinase	Carbohydrate metabolism -> Glycolysis	Homo sapiens	RefSeq	ILMN_137806	ILMN_24490	PKLR	NM_181871.2	NM_181871.2		5313	82659100	NM_181871.2	PKLR	NP_870986.1	ILMN_1777031	510164	A	2323	TGCCTGATACCCTGCTTGGTCAAATCCCCGGCTGCTTCCTTCTGCACCCA	1	-	153526314-153526363	1q22a	"Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA."		"The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism [goid 51707] [evidence IEA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [pmid 3126495] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]"	PKL; PK1; RPK	PKL; PK1; RPK
Kinase -> Carbohydrate kinase	Carbohydrate metabolism -> Glycolysis	Homo sapiens	RefSeq	ILMN_137806	ILMN_24490	PKLR	NM_181871.2	NM_181871.2		5313	82659100	NM_181871.2	PKLR	NP_870986.1	ILMN_1725172	5720646	I	22	GTGGAGCAGACCCACAGAGAGGGAGACCCAGAGAGGTGTGCAGTGGCATG	1	-	153537299-153537302:153537303-153537348	1q22a	"Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA."		"The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; The chemical reactions and pathways resulting in the breakdown of a monosaccharide (generally glucose) into pyruvate, with the concomitant production of a small amount of ATP. Pyruvate may be converted to ethanol, lactate, or other small molecules, or fed into the TCA cycle [goid 6096] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism [goid 51707] [evidence IEA]"	"Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate [goid 4743] [pmid 3126495] [evidence TAS]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Interacting selectively with potassium (K+) ions [goid 30955] [evidence IEA]"	PKL; PK1; RPK	PKL; PK1; RPK
Transcription factor -> Transcription cofactor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Developmental processes -> Ectoderm development -> Neurogenesis;Oncogenesis -> Oncogene	Homo sapiens	RefSeq	ILMN_183982	ILMN_183982	LMO4	NM_006769.2	NM_006769.2		8543	7108354	NM_006769.2	LMO4	NP_006760.1	ILMN_2117171	7210450	S	1916	CAGGCTCATAGCAGCTACTGTGTAGAAAATTCCCCCTACTTCTAATTTGC	1	+	87583705-87583754	1p22.3a	"Homo sapiens LIM domain only 4 (LMO4), mRNA."	"Any complex, distinct from RNA polymerase, including one or more polypeptides capable of binding DNA at promoters or at cis-acting regulatory sequences, and regulating transcription [goid 5667] [evidence ISS]"	"The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline [goid 1843] [evidence ISS]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [evidence ISS]"	"Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 10209267] [evidence TAS]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [evidence ISS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7222	ILMN_7222	C20ORF195	NM_024059.2	NM_024059.2		79025	15011885	NM_024059.2	C20orf195	NP_076964.1	ILMN_1780172	7040753	S	914	GCCCAACCGATCCTATAAGTTCACCATCAAGAGGGCCGAGACCTCCACGC	20	+	61658282-61658331	20q13.33e	"Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA."				MGC5356	MGC5356
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_10192	ILMN_10192	ZSCAN2	NM_017894.4	NM_017894.4		54993	55769573	NM_017894.4	ZSCAN2	NP_060364.3	ILMN_1675377	2450768	I	784	CAGGTCTCAGCAGGTGTCAGAGGTGATTACAGCCCTTCCCATCCACCTTG	15	+	82950915-82950964	15q25.2b	"Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 2, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]	FLJ20595; ZFP29	FLJ20595; ZFP29
		Homo sapiens	RefSeq	ILMN_180488	ILMN_180488	TSPAN11	NM_001080509.1	NM_001080509.1		441631	122937465	NM_001080509.1	TSPAN11	NP_001073978.1	ILMN_2341524	5050709	A	1207	CAGCTCCTGAACCTGGAACAATCGGCAGAAAACCCAGGAACCCCGGCACT	12	+	31036449-31036498	12p11.21b	"Homo sapiens tetraspanin 11 (TSPAN11), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"
		Homo sapiens	RefSeq	ILMN_40510	ILMN_180488	TSPAN11	NM_001080509.1	NM_001080509.1		441631	122937465	NM_001080509.1	TSPAN11	NP_001073978.1	ILMN_1697810	3520228	A	530	CACGCAGATCACCGCCTCAGTGGACCGACTCCAGCAGGATTTCAAGTGCT	12	+	31023833-31023872:31026734-31026743	12p11.21b	"Homo sapiens tetraspanin 11 (TSPAN11), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"
Molecular function unclassified	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_21264	ILMN_21264	GYPE	NM_002102.3	NM_002102.3		2996	149408156	NM_002102.3	GYPE	NP_002093.2	ILMN_1695187	6940086	I	308	AGGATGTGGCCTGCATGCTGCCTGATCTTGCCTAGAACCAGCTGCACCTG	4	-	145016057-145016106	4q31.22a	"Homo sapiens glycophorin E (GYPE), transcript variant 1, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2295603] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7622054] [evidence TAS]			GPE; MiIX; MNS	GPE; MNS; MiIX
Molecular function unclassified	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_21264	ILMN_21264	GYPE	NM_002102.3	NM_002102.3		2996	149408156	NM_002102.3	GYPE	NP_002093.2	ILMN_1812163	3520300	A	181	CACAGACAAATGGGATAACACTCATTAATTGGTGGGCGATGGCTCGTGTT	4	-	145017420-145017458:145021014-145021024	4q31.22a	"Homo sapiens glycophorin E (GYPE), transcript variant 1, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2295603] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7622054] [evidence TAS]			GPE; MiIX; MNS	GPE; MNS; MiIX
Receptor -> Immunoglobulin receptor family member;Defense/immunity protein -> Immunoglobulin receptor family member	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27684	ILMN_27684	CD300E	NM_181449.1	NM_181449.1		342510	31324529	NM_181449.1	CD300E	NP_852114.1	ILMN_1751095	2640674	S	423	TCCCCAGCAATTACAACCCCAAGGAGGACCACACATCCAGCCACACCTCC	17	-	70121724-70121767:70124852-70124857	17q25.1b	"Homo sapiens CD300e molecule (CD300E), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]	CLM2; CD300LE; IREM2	CLM2; CD300LE; IREM2
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_139213	ILMN_4360	ZNF253	NM_021047.2	NM_021047.2		56242	83320067	NM_021047.2	ZNF253	NP_066385.2	ILMN_1769099	7150326	S	1645	CCAGCCCTCGACTCTTAGTAAATTTGAGAGTTTATATGGAACACAAACCC	19	+	19864609-19864658	19p12d	"Homo sapiens zinc finger protein 253 (ZNF253), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 10585455] [evidence NAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 10585455] [evidence NAS]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [pmid 10585455] [evidence NAS]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ90391; ZNF411; BMZF1; BMZF-1	FLJ90391; ZNF411; BMZF1; BMZF-1
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_27346	ILMN_27346	TEX101	NM_031451.3	NM_031451.3		83639	20127665	NM_031451.3	TEX101	NP_113639.3	ILMN_2211235	1030603	S	1368	GGCACTTCTGGGCCTGGGTCTGAGGACATCTTTTTTGACTGGGAGCCTTC	19	+	48614392-48614441	19q13.31a	"Homo sapiens testis expressed 101 (TEX101), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"			GTPR867; SGRG; PRO1884; MGC4766; NYD-SP8	GTPR867; SGRG; PRO1884; MGC4766; NYD-SP8
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_25405	ILMN_25405	C6ORF173	NM_001012507.1	NM_001012507.1		387103	60302882	NM_001012507.1	C6orf173	NP_001012525.1	ILMN_1763907	670703	S	299	CTGTTTGTTCATCGATTAGCAGAAGAGTCCAGGACAAACGCTTGTGCGAG	6	+	126709066-126709115	6q22.32b	"Homo sapiens chromosome 6 open reading frame 173 (C6orf173), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"			DKFZp686L1553; CUG2	DKFZp686L1553; CUG2
Miscellaneous function -> Structural protein	Miscellaneous;Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_8198	ILMN_8198	KRTAP13-3	NM_181622.1	NM_181622.1		337960	31791001	NM_181622.1	KRTAP13-3	NP_853653.1	ILMN_1780411	2640079	S	228	CCACACCTCCTGCTACTACCCCAGGACTCACATGCTCTGCAATTCTTGCC	21	-	30719824-30719873	21q22.11a	"Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA."	"A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins [goid 5882] [evidence IEA]"			KAP13.3; MGC119828	KAP13.3; MGC119828
Nucleic acid binding -> Ribosomal protein	Protein metabolism and modification -> Protein biosynthesis	Homo sapiens	RefSeq	ILMN_2500	ILMN_2500	RPL13A	NM_012423.2	NM_012423.2		23521	14591905	NM_012423.2	RPL13A	NP_036555.1	ILMN_1713369	6060356	S	729	TGCCACAGGCAGCCCTGGGACATAGGAAGCTGGGAGCAAGGAAAGGGTCT	19	+	54686979-54687028	19q13.33b	"Homo sapiens ribosomal protein L13a (RPL13A), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]; The larger of the two subunits of a ribosome. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site) [goid 15934] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 14567916] [evidence EXP]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 12588972] [evidence EXP]; An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins [goid 5840] [evidence IEA]; The larger of the two subunits of a ribosome. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site) [goid 15934] [pmid 10580157] [evidence TAS]"	The chemical reactions and pathways resulting in the formation of a protein. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein [goid 6412] [evidence IEA]; The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis [goid 6414] [pmid 15189156] [evidence EXP]	The action of a molecule that contributes to the structural integrity of the ribosome [goid 3735] [evidence IEA]; The action of a molecule that contributes to the structural integrity of the ribosome [goid 3735] [pmid 10580157] [evidence TAS]
Select regulatory molecule -> Protease inhibitor -> Metalloprotease inhibitor	Protein metabolism and modification -> Proteolysis;Developmental processes -> Other developmental process	Homo sapiens	RefSeq	ILMN_3162	ILMN_3162	TIMP1	NM_003254.2	NM_003254.2		7076	73858576	NM_003254.2	TIMP1	NP_003245.1	ILMN_1711566	7650433	S	791	AGTCCCTGCGGTCCCAGATAGCCTGAATCCTGCCCGGAGTGGAAGCTGAA	X	+	47331009-47331034:47331035-47331058	Xp11.23f	"Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1653055] [evidence NAS]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers [goid 5604] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]	"Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [pmid 3839290] [evidence TAS]; A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state [goid 43249] [evidence IEA]; Any process that stops, prevents or reduces the frequency, rate or extent of membrane protein ectodomain proteolysis [goid 51045] [pmid 12714508] [evidence IDA]"	"Stops, prevents or reduces the activity of an enzyme [goid 4857] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 2251898] [evidence IPI]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [pmid 12714508] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Stops, prevents or reduces the activity of metalloendopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain and contain a chelated metal ion at their active sites which is essential to their catalytic activity [goid 8191] [evidence IEA]"	EPA; EPO; TIMP; FLJ90373; CLGI; HCI	TIMP; FLJ90373; CLGI; EPA; EPO; HCI
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Tubulin	Intracellular protein traffic;Cell cycle -> Mitosis -> Chromosome segregation;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_16399	ILMN_16399	TUBB3	NM_006086.2	NM_006086.2		10381	50592995	NM_006086.2	TUBB3	NP_006077.2	ILMN_1791726	4050040	S	1567	TCCTCCCCACCTAGGCCACGTGTGAGCTGCTCCTGTCTCTGTCTTATTGC	16	+	88529862-88529911	16q24.3b	"Homo sapiens tubulin, beta 3 (TUBB3), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [evidence IEA]"	"Movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins [goid 7018] [evidence IEA]; The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein [goid 51258] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence IEA]"	TUBB4; beta-4; MC1R	TUBB4; MC1R; beta-4
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes -> Mesoderm development	Homo sapiens	RefSeq	ILMN_19755	ILMN_19755	TBX22	NM_016954.2	NM_016954.2		50945	40316908	NM_016954.2	TBX22	NP_058650.1	ILMN_2161194	2510168	S	1783	CTACAGGAATCTCTGATTACAGTGGCCTTGAGCTTCAAAATGAGATATGC	X	+	79173459-79173508	Xq21.1b	"Homo sapiens T-box 22 (TBX22), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence NAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 11024289] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 11024289] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 11024289] [evidence TAS]; The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [evidence IEA]	TBXX; dJ795G23.1; CLPA	dJ795G23.1; TBXX; CLPA
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17331	ILMN_17331	OR1J4	NM_001004452.1	NM_001004452.1		26219	52218825	NM_001004452.1	OR1J4	NP_001004452.1	ILMN_1686250	6840167	S	655	GGCCACATTGGGGTCACCATCCTCAAGGCTCCATCTACTAAGGGCATCTT	9	+	124321895-124321944	9q33.2b	"Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	HTPCRX01; OR9-21; HSHTPCRX01	HTPCRX01; OR9-21; HSHTPCRX01
Phosphatase -> Other phosphatase	Developmental processes -> Mesoderm development -> Skeletal development	Homo sapiens	RefSeq	ILMN_4097	ILMN_169862	ALPL	NM_000478.3	NM_000478.3		249	116734716	NM_000478.3	ALPL	NP_000469.3	ILMN_1701603	5700070	S	2442	TCACACTCCTGGGCTCTGAACACACACGCCAGCTCCTCTCTGAAGCGACT	1	+	21777338-21777387	1p36.12b	"Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"	"The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 9781036] [evidence TAS]; The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum [goid 4035] [evidence IEA]; Interacting selectively with magnesium (Mg) ions [goid 287] [evidence IEA]; Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum [goid 4035] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	AP-TNAP; TNAP; MGC161443; TNSALP; HOPS; FLJ40094	TNSALP; HOPS; FLJ40094; AP-TNAP; TNAP; MGC161443
Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Developmental processes	Homo sapiens	RefSeq	ILMN_21027	ILMN_21027	PHF19	NM_015651.1	NM_015651.1		26147	58331160	NM_015651.1	PHF19	NP_056466.1	ILMN_1713249	2570091	I	4058	GGGGTGTCTGCACCACCTGGGAAGATAGCACAAGGCCTAATGAGGTCACC	9	-	122657931-122657980	9q33.2a	"Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC23929; MGC149713; MGC131698; PCL3; MGC149712	MGC131698; PCL3; MGC23929; MGC149713; MGC149712
Transferase -> Glycosyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism;Lipid, fatty acid and steroid metabolism -> Steroid metabolism -> Steroid hormone metabolism	Homo sapiens	RefSeq	ILMN_20607	ILMN_20607	UGT1A5	NM_019078.1	NM_019078.1		54579	46249403	NM_019078.1	UGT1A5	NP_061951.1	ILMN_1707828	4490240	S	360	GTCTTTGATCATACATAGGTCTTGTGTGGAGCTACTGCATAATGAGGCCC	2	+	234286736-234286785	2q37.1d	"Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [evidence IEA]; The lipid bilayer surrounding the endoplasmic reticulum [goid 5789] [evidence IEA]; Any of the small, heterogeneous, artifactual, vesicular particles, 50-150 nm in diameter, that are formed when some eukaryotic cells are homogenized and that sediment on centrifugation at 100000 g [goid 5792] [evidence NAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to living organisms. Used of chemical compounds, e.g. a xenobiotic chemical, such as a pesticide [goid 6805] [evidence NAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence NAS]"	Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside [goid 15020] [evidence IEA]	UGT1*5; UGT1E; UDPGT	UGT1*5; UGT1E; UDPGT
Transporter -> Other transporter	Transport -> Ion transport -> Cation transport;Homeostasis	Homo sapiens	RefSeq	ILMN_24834	ILMN_24834	SLC30A5	NM_022902.2	NM_022902.2		64924	20070322	NM_022902.2	SLC30A5	NP_075053.2	ILMN_2258471	3420301	I	2595	GTACAGAAACAGAGTTCCCTACTACTGGATCAAGGAATCTTTCTTGAAGG	5	+	68461296-68461345	5q13.2a	"Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 11937503] [evidence NAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 10330022] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 11937503] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [pmid 11937503] [evidence IDA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [pmid 10330022] [evidence IDA]"	"The directed movement of cations, atoms or small molecules with a net positive charge, into, out of, within or between cells [goid 6812] [evidence IEA]; The directed movement of cobalt (Co) ions into, out of, within or between cells [goid 6824] [pmid 11937503] [evidence IDA]; The directed movement of cobalt (Co) ions into, out of, within or between cells [goid 6824] [pmid 10330022] [evidence IDA]; The directed movement of zinc (Zn) ions into, out of, within or between cells [goid 6829] [pmid 11937503] [evidence IDA]; The regulation of the levels, transport, and metabolism of zinc ions within a cell or between a cell and its external environment [goid 6882] [pmid 11937503] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a zinc ion stimulus [goid 10043] [pmid 11937503] [evidence IDA]; Any process that modulates the frequency, rate or extent of proton transport into, out of, within or between cells [goid 10155] [pmid 11937503] [evidence NAS]"	Catalysis of the transfer of zinc (Zn) ions from one side of a membrane to the other [goid 5385] [pmid 11937503] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 11937503] [evidence NAS]; Catalysis of the transfer of cation from one side of the membrane to the other [goid 8324] [evidence IEA]	ZnT-5; MGC5499; ZTL1; FLJ12496; ZNTL1; FLJ12756; ZNT5	ZnT-5; MGC5499; ZTL1; FLJ12496; ZNTL1; FLJ12756; ZNT5
Transporter -> Other transporter	Transport -> Ion transport -> Cation transport;Homeostasis	Homo sapiens	RefSeq	ILMN_8356	ILMN_24834	SLC30A5	NM_022902.2	NM_022902.2		64924	20070322	NM_022902.2	SLC30A5	NP_075053.2	ILMN_1709728	1230730	A	493	CATGCAGTTGCTGGGTGTATTATTTCACTCTTGTGGTTTTTTGGCCTCAC	5	+	68436232-68436281	5q13.2a	"Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 11937503] [evidence NAS]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [pmid 10330022] [evidence IDA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 11937503] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; The region of the plasma membrane located at the apical end of the cell [goid 16324] [pmid 11937503] [evidence IDA]; A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules [goid 30141] [pmid 10330022] [evidence IDA]"	"The directed movement of cations, atoms or small molecules with a net positive charge, into, out of, within or between cells [goid 6812] [evidence IEA]; The directed movement of cobalt (Co) ions into, out of, within or between cells [goid 6824] [pmid 11937503] [evidence IDA]; The directed movement of cobalt (Co) ions into, out of, within or between cells [goid 6824] [pmid 10330022] [evidence IDA]; The directed movement of zinc (Zn) ions into, out of, within or between cells [goid 6829] [pmid 11937503] [evidence IDA]; The regulation of the levels, transport, and metabolism of zinc ions within a cell or between a cell and its external environment [goid 6882] [pmid 11937503] [evidence IDA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a zinc ion stimulus [goid 10043] [pmid 11937503] [evidence IDA]; Any process that modulates the frequency, rate or extent of proton transport into, out of, within or between cells [goid 10155] [pmid 11937503] [evidence NAS]"	Catalysis of the transfer of zinc (Zn) ions from one side of a membrane to the other [goid 5385] [pmid 11937503] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [pmid 11937503] [evidence NAS]; Catalysis of the transfer of cation from one side of the membrane to the other [goid 8324] [evidence IEA]	ZnT-5; MGC5499; ZTL1; FLJ12496; ZNTL1; FLJ12756; ZNT5	ZnT-5; MGC5499; ZTL1; FLJ12496; ZNTL1; FLJ12756; ZNT5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_1498	ILMN_1498	SBSN	NM_198538.1	NM_198538.1		374897	38348365	NM_198538.1	SBSN	NP_940940.1	ILMN_1712759	4480477	S	755	AACACGCCTTTCATCAACCTTCCCGCCCTGTGGAGGAGCGTCGCCAACAT	19	-	40706261-40706275:40707453-40707487	19q13.12a	"Homo sapiens suprabasin (SBSN), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]			MGC75533; UNQ698	UNQ698; MGC75533
Defense/immunity protein -> Antibacterial response protein;Defense/immunity protein -> Other defense and immunity protein	Immunity and defense -> Other immune and defense;Immunity and defense -> Stress response;Immunity and defense -> Cytokine/chemokine mediated immunity	Homo sapiens	RefSeq	ILMN_13254	ILMN_13254	PTX3	NM_002852.2	NM_002852.2		5806	31543449	NM_002852.2	PTX3	NP_002843.1	ILMN_1801842	3460682	S	1132	GGGATAGTGTTCTTAGCAATGAAGAGATAAGAGAGACCGGAGGAGCAGAG	3	+	158643332-158643381	3q25.32a	"Homo sapiens pentraxin-related gene, rapidly induced by IL-1 beta (PTX3), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 1429570] [evidence TAS]	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a yeast species [goid 1878] [evidence IEA]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 1429570] [evidence TAS]; The process by which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody [goid 8228] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide [goid 45429] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of phagocytosis [goid 50766] [evidence IEA]"	Interacting selectively with zymosan [goid 1872] [evidence IEA]	TSG-14; TNFAIP5	TSG-14; TNFAIP5
Molecular function unclassified	Nucleoside, nucleotide and nucleic acid metabolism;Developmental processes -> Ectoderm development	Homo sapiens	RefSeq	ILMN_6863	ILMN_6863	PPHLN1	NM_016488.5	NM_016488.5		51535	48255928	NM_016488.5	PPHLN1	NP_057572.5	ILMN_1706593	2570373	I	3014	ACTTGAGAAACTACCAAAGGCTCAGGAGTTGTCCACTTTGTTGAAATCCA	12	+	41128219-41128268	12q12e	"Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns [goid 31424] [evidence IEA]"		HSPC206; HSPC232; MGC48786	HSPC206; HSPC232; MGC48786
Molecular function unclassified	Nucleoside, nucleotide and nucleic acid metabolism;Developmental processes -> Ectoderm development	Homo sapiens	RefSeq	ILMN_4445	ILMN_6863	PPHLN1	NM_016488.5	NM_016488.5		51535	48255928	NM_016488.5	PPHLN1	NP_057572.5	ILMN_1791093	1430706	A	874	GCGGGATCCACAGCACCATTGTTTACTGACCAGCCAGAGGAACCTGAGTC	12	+	41078923-41078972	12q12e	"Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns [goid 31424] [evidence IEA]"		HSPC206; HSPC232; MGC48786	HSPC206; HSPC232; MGC48786
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_16726	ILMN_16726	MAEL	NM_032858.1	NM_032858.1		84944	14249589	NM_032858.1	MAEL	NP_116247.1	ILMN_2211483	1710411	S	1303	CCAACTGTGACACTTCACTCTCACCTTACATGTCCCAAAAAGATGGATAC	1	+	165257643-165257692	1q24.1c	"Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The sex chromosome present in both sexes of species in which the male is the heterogametic sex. Two copies of the X chromosome are present in each somatic cell of females and one copy is present in males [goid 805] [evidence IEA]; The sex chromosome present in males of species in which the male is the heterogametic sex; generally, the sex chromosome that pairs with the X chromosome in the heterogametic sex. The Y chromosome is absent from the cells of females and present in one copy in the somatic cells of males [goid 806] [evidence IEA]; A structure found in a male mammalian spermatocyte containing an unpaired X chromosome that has become densely heterochromatic, silenced and localized at the nuclear periphery [goid 1741] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; Any complex that mediates dynamic changes in eukaryotic chromatin [goid 16585] [evidence IEA]; Any chromosome other than a sex chromosome [goid 30849] [evidence IEA]; A ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network. Contains mRNAs, miRNAs, and protein components involved in miRNA processing (such as Argonaute proteins and the endonuclease Dicer) and in RNA decay (such as the decapping enzyme DCP1a and GW182) [goid 33391] [evidence IEA]"		Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	RP11-102C16.1; FLJ14904	RP11-102C16.1; FLJ14904
Transferase -> Nucleotidyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> Purine metabolism	Homo sapiens	RefSeq	ILMN_13590	ILMN_13590	NMNAT2	NM_170706.2	NM_170706.2		23057	34335244	NM_170706.2	NMNAT2	NP_733820.1	ILMN_1707881	4830630	I	10	TCCCAAGCTGGAGGTAGTGGAGCAAACAAGATCAGCAACAATGAGGGAGC	1	-	181540573-181540622	1q25.3d	"Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]"	"The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones [goid 9058] [evidence IEA]; The chemical reactions and pathways resulting in the formation of nicotinamide adenine dinucleotide, a coenzyme present in most living cells and derived from the B vitamin nicotinic acid; biosynthesis may be of either the oxidized form, NAD, or the reduced form, NADH [goid 9435] [evidence IEA]"	"Catalysis of the reaction: ATP + nicotinamide nucleotide = diphosphate + NAD+ [goid 309] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"	C1orf15; PNAT2; KIAA0479; PNAT-2; MGC2756	C1orf15; PNAT2; KIAA0479; PNAT-2; MGC2756
Cell adhesion molecule;Cytoskeletal protein -> Actin family cytoskeletal protein -> Non-motor actin binding protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_26712	ILMN_26712	VCL	NM_003373.3	NM_003373.3		7414	50593538	NM_003373.3	VCL	NP_003364.1	ILMN_2413527	2900068	A	3807	ACCTGGGTCCTTTTCAGAAGTGAGCTTTGCTGCTACAGGGGAAGGTGGCC	10	+	75548445-75548494	10q22.2a-q22.2b	"Homo sapiens vinculin (VCL), transcript variant 2, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; A specialized region of connection between two cells including but not limited to gap junctions, desmosomes, and tight junctions, but excluding direct cytoplasmic junctions such as ring canals [goid 5911] [evidence ISS]; A cell junction at which the cytoplasmic face of the plasma membrane is attached to actin filaments [goid 5912] [evidence ISS]; An electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains gap junctions and desmosomes. Most of the disc is formed of a convoluted fascia adherens type of junction into which the actin filaments of the terminal sarcomeres insert (or in the case of muscle cells, myofibrils), desmosomes are also present. The lateral portion of the stepped disc contains gap junctions that couple the cells electrically and thus coordinate the contraction [goid 5916] [evidence IEA]; Small region on the surface of a cell that anchors the cell to the extracellular matrix and that are points of termination of actin filaments [goid 5925] [evidence ISS]; The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes [goid 15629] [evidence IEA]; A specialized region of connection between a cell and the extracellular matrix [goid 30055] [pmid 2116004] [evidence NAS]; Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix [goid 43034] [evidence ISS]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [pmid 9700171] [evidence IDA]"	"Any process involved in the controlled movement of a cell [goid 6928] [pmid 16130169] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 15501673] [evidence TAS]; Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell [goid 30032] [evidence ISS]; Any process that stops, prevents or reduces the frequency, rate or extent of cell migration [goid 30336] [pmid 15494027] [evidence TAS]; The formation of an apical junction, a functional unit located near the cell apex at the points of contact between epithelial cells composed of the tight junction, the zonula adherens junction and the desmosomes, by the aggregation, arrangement and bonding together of its constituents [goid 43297] [pmid 9700171] [evidence IMP]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 7816144] [evidence IDA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced [goid 16491] [evidence ISS]; Interacting selectively with the alpha subunit of the catenin complex [goid 45294] [pmid 9700171] [evidence IPI]"	MVCL; CMD1W	MVCL; CMD1W
Select regulatory molecule -> Kinase modulator -> Kinase activator	Carbohydrate metabolism -> Glycogen metabolism	Homo sapiens	RefSeq	ILMN_18544	ILMN_18544	PHKB	NM_001031835.1	NM_001031835.1		5257	73611905	NM_001031835.1	PHKB	NP_001027005.1	ILMN_1652412	1240019	I	2515	AAGTAGTGGACAGCCTGGCCCCATCCATTACTAATGTTTTAGTGCAGGGC	16	+	46257403-46257444:46260627-46260634	16q12.1a	"Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 2, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages [goid 5977] [pmid 9402963] [evidence TAS]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 9402963] [evidence TAS]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]"	FLJ41698; DKFZp781E15103	DKFZp781E15103; FLJ41698
Select regulatory molecule -> Kinase modulator -> Kinase activator	Carbohydrate metabolism -> Glycogen metabolism	Homo sapiens	RefSeq	ILMN_18544	ILMN_18544	PHKB	NM_001031835.1	NM_001031835.1		5257	73611905	NM_001031835.1	PHKB	NP_001027005.1	ILMN_1800447	1740682	A	3536	GGTGAATGCCACATCCTTGGCGGGGTTATGGACCTCTTGCATGTCATAGC	16	+	46290903-46290952	16q12.1a	"Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 2, mRNA."	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]	"The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule [goid 5975] [evidence IEA]; The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha(1->4) glycosidic linkage, joined together by alpha(1->6) glycosidic linkages [goid 5977] [pmid 9402963] [evidence TAS]; The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 9402963] [evidence TAS]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Interacting selectively with calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states [goid 5516] [evidence IEA]"	FLJ41698; DKFZp781E15103	DKFZp781E15103; FLJ41698
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Sensory perception -> Chemosensory perception -> Olfaction	Homo sapiens	RefSeq	ILMN_8322	ILMN_8322	OR6N2	NM_001005278.1	NM_001005278.1		81442	52627157	NM_001005278.1	OR6N2	NP_001005278.1	ILMN_1724427	5390468	S	719	CCTGTGCCTCACATCTTGCTGTGGTCCTCATCTTCTTTGGGAGCATCATC	1	-	157013281-157013330	1q23.1g	"Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	OR1-23	OR1-23
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22758	ILMN_22758	SAMD7	NM_182610.2	NM_182610.2		344658	141802512	NM_182610.2	SAMD7	NP_872416.1	ILMN_1748150	3990474	S	1977	AGGCAACCCAATGAAACCACAGAGAGGCAGAAGAGAACGGGCAGAAGTAC	3	+	171139357-171139406	3q26.2b	"Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA."				DKFZp686E1583	DKFZp686E1583
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Cell surface receptor mediated signal transduction -> Cytokine and chemokine mediated signaling pathway;Immunity and defense -> Cytokine/chemokine mediated immunity;Immunity and defense -> Granulocyte-mediated immunity;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_173926	ILMN_173926	CCR5	NM_000579.2	NM_000579.2		1234	118572593	NM_000579.2	CCR5	NP_000570.1	ILMN_2145033	6980075	S	2981	TCTGTCTCATATGATTGTGCACATACTTGAGACTGTTTTGAATTTGGGGG				3p21.31i	"Homo sapiens chemokine (C-C motif) receptor 5 (CCR5), mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 10415069] [evidence TAS]; A membrane-bounded organelle that carries materials newly ingested by endocytosis. It passes many of the materials to lysosomes for degradation [goid 5768] [pmid 10679098] [evidence TAS]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 10201901] [evidence TAS]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 10393923] [evidence TAS]; The side of the plasma membrane that is opposite to the side that faces the cytoplasm [goid 9897] [pmid 11278962] [evidence IDA]"	"The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 10741397] [evidence TAS]; The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages [goid 6954] [pmid 8639485] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 8639485] [evidence TAS]; A defense response that is mediated by cells [goid 6968] [pmid 10201901] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 10393923] [evidence TAS]; Any process that increases the concentration of calcium ions in the cytosol [goid 7204] [pmid 10201901] [evidence TAS]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 10679098] [evidence TAS]; The set of processes involved in the start of virus infection of cells [goid 19059] [pmid 12091904] [evidence EXP]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 12421915] [evidence IDA]; Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = D-myo-inositol 1,4,5-trisphosphate + diacylglycerol [goid 4435] [pmid 8663314] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12421915] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15001559] [evidence IPI]; Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity [goid 15026] [pmid 10469138] [evidence TAS]; Combining with a C-C chemokine to initiate a change in cell activity. C-C chemokines do not have an amino acid between the first two cysteines of the characteristic four-cysteine motif [goid 16493] [pmid 8639485] [evidence NAS]"	CD195; CKR5; CCCKR5; CC-CKR-5; CMKBR5; CKR-5	CD195; CKR5; CCCKR5; CC-CKR-5; CMKBR5; CKR-5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3664	ILMN_3664	CSDE1	NM_001007553.1	NM_001007553.1		7812	56117851	NM_001007553.1	CSDE1	NP_001007554.1	ILMN_1683538	7510114	I	779	GTGTGCGCTGTTCCTCACAACTTAGAGAGTAAATCTCCAGCTGCCCCGGG	1	-	115081654-115081703	1p13.2a	"Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [pmid 2204029] [evidence TAS]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	DKFZp779B0247; D1S155E; DKFZp779J1455; FLJ26882; UNR; RP5-1000E10.3	D1S155E; FLJ26882; UNR; DKFZp779B0247; DKFZp779J1455; RP5-1000E10.3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3054	ILMN_3664	CSDE1	NM_001007553.1	NM_001007553.1		7812	56117851	NM_001007553.1	CSDE1	NP_001007554.1	ILMN_1685796	3710440	A	3927	GATGACAAGGGTCAGCTCAGGGGATGTGGGGGAGGGCGGTTTTATCTTCC	1	-	115061199-115061248	1p13.2a	"Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae [goid 5743] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure [goid 8584] [pmid 2204029] [evidence TAS]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]	DKFZp779B0247; D1S155E; DKFZp779J1455; FLJ26882; UNR; RP5-1000E10.3	D1S155E; FLJ26882; UNR; DKFZp779B0247; DKFZp779J1455; RP5-1000E10.3
		Homo sapiens	RefSeq	ILMN_10377	ILMN_10377	CYCSL1	NR_001561.1	NR_001561.1		157317	33563332	NR_001561.1	CYCSL1		ILMN_2061419	6040670	S	303	GCACTTTGGGAGGCTGAGGCAGACAGATCACGAAGTCAGGAGATCGAGAC	6	+	34295498-34295547	6p21.31e	"Homo sapiens cytochrome c, somatic-like 1 (CYCSL1) on chromosome 6."				HS11; bA513I15.3; HCP15	HS11; bA513I15.3; HCP15
Transporter -> Other transporter	Nucleoside, nucleotide and nucleic acid metabolism -> Nucleoside, nucleotide and nucleic acid transport;Transport -> Nucleoside, nucleotide and nucleic acid transport;Transport -> Other transport	Homo sapiens	RefSeq	ILMN_26184	ILMN_26184	SLC35E4	NM_001001479.2	NM_001001479.2		339665	109948261	NM_001001479.2	SLC35E4	NP_001001479.1	ILMN_1803728	2940630	S	1561	CGCCTCAGTGCCCTCAGCTACGTGGGCATCGCACTCACTCTTTCAGGAAT	22	+	29372881-29372930	22q12.2b	"Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			MGC129826	MGC129826
Nucleic acid binding -> DNA methyltransferase;Transferase -> Methyltransferase -> DNA methyltransferase;Nucleic acid binding -> DNA methyltransferase;Transferase -> Methyltransferase -> DNA methyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism	Homo sapiens	RefSeq	ILMN_18290	ILMN_18290	DNMT3L	NM_175867.1	NM_175867.1		29947	28872779	NM_175867.1	DNMT3L	NP_787063.1	ILMN_1778357	3180243	A	1450	CGTGTGGAGCAACATCCCAGCCATAAGGAGCAGGCACTGGGCTCTGGTTT	21	-	44490853-44490873:44493337-44493365	21q22.3d	"Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA."	"A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure that remains in the nucleus [goid 794] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12202768] [evidence NAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 16780588] [evidence IDA]; A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin [goid 5720] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 16780588] [evidence IDA]"	"The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth [goid 1701] [evidence IEA]; The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine [goid 6306] [pmid 12202768] [evidence NAS]; Heritable alterations in the activity of a gene that depend on whether it passed through the paternal or the maternal germline, but that are not encoded by DNA itself [goid 6349] [pmid 12202768] [evidence NAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 11934864] [evidence NAS]"	Increases the activity of an enzyme [goid 8047] [pmid 16543361] [evidence IDA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Any transcription regulator activity that prevents or downregulates transcription [goid 16564] [pmid 12202768] [evidence IDA]; Interacting selectively with any enzyme [goid 19899] [pmid 12202768] [evidence IPI]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	MGC1090	MGC1090
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11753	ILMN_11753	NUP205	NM_015135.1	NM_015135.1		23165	57634533	NM_015135.1	NUP205	NP_055950.1	ILMN_1673962	1450524	S	6005	CAGACGTATCCGTGGCCTCTTGAGGATATCAAGGAACTGAGAGCCCGTGC	7	+	134677666-134677705:134677706-134677715	7q33c	"Homo sapiens nucleoporin 205kDa (NUP205), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space) [goid 5635] [pmid 12228227] [evidence EXP]; Any of the numerous similar discrete openings in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined [goid 5643] [pmid 9348540] [evidence NAS]"	"The aggregation, arrangement and bonding together of the nuclear localization signal of a protein with nuclear envelope proteins such as importins [goid 59] [pmid 9348540] [evidence TAS]; The directed movement of molecules between the nucleus and the cytoplasm [goid 6913] [pmid 9348540] [evidence TAS]; The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; The directed movement of mRNA, messenger ribonucleic acid, into, out of, within or between cells [goid 51028] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 9348540] [evidence IPI]	C7orf14	C7orf14
Ligase -> Ubiquitin-protein ligase	Protein metabolism and modification -> Proteolysis	Homo sapiens	RefSeq	ILMN_2313	ILMN_2753	RCHY1	NM_001008925.1	NM_001008925.1		25898	58331196	NM_001008925.1	RCHY1	NP_001008925.1	ILMN_1722698	270445	A	3308	CGGTACCCAGGGTTGCTTCAAGTATTTGTTCATGACACGTCAACTCGATG	4	-	76624330-76624379	4q21.1a	"Homo sapiens ring finger and CHY zinc finger domain containing 1 (RCHY1), transcript variant 2, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 15781263] [evidence IDA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 15781263] [evidence IPI]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]	ARNIP; PRO1996; CHIMP; DKFZp586C1620; ZNF363; hARNIP; RNF199; PIRH2	ARNIP; PRO1996; CHIMP; DKFZp586C1620; ZNF363; hARNIP; RNF199; PIRH2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6229	ILMN_182575	C20ORF132	NM_152503.3	NM_152503.3		140699	117168284	NM_152503.3	C20orf132	NP_689716.3	ILMN_1809767	5550528	A	1684	CCAAGTACACAGATATAGTGCTCAGCTTCCTTCTGTGTCATCCAGTGCCG	20	-	35199634-35199683	20q11.23b	"Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA."			"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	FLJ36113; DKFZp434N0426; dJ621N11.4	FLJ36113; DKFZp434N0426; dJ621N11.4
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6109	ILMN_182575	C20ORF132	NM_152503.3	NM_152503.3		140699	117168284	NM_152503.3	C20orf132	NP_689716.3	ILMN_1780356	6980561	I	3070	ACGATCTGAGAGACCTGCTGTGTGACCCTGAGCCCTCGCTGTGCATCATC	20	-	35164605-35164652:35170416-35170417	20q11.23b	"Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA."			"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]"	FLJ36113; DKFZp434N0426; dJ621N11.4	FLJ36113; DKFZp434N0426; dJ621N11.4
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_6004	ILMN_16782	CXCL12	NM_000609.4	NM_000609.4		6387	76563934	NM_000609.4	CXCL12	NP_000600.1	ILMN_1689111	4610615	A	161	CAGCCTGAGCTACAGATGCCCATGCCGATTCTTCGAAAGCCATGTTGCCA	10	-	44196274-44196323	10q11.21c	"Homo sapiens chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1) (CXCL12), transcript variant 2, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]"	"Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [evidence IEA]; The process that regulates the coordinated growth and sprouting of blood vessels giving rise to the organized vascular system [goid 1569] [evidence IEA]; Cell migration that is accomplished by extension and retraction of a pseudopodium [goid 1667] [evidence IEA]; The regulation of the levels, transport, and metabolism of calcium ions within a cell or between a cell and its external environment [goid 6874] [pmid 10772939] [evidence TAS]; The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis) [goid 6935] [pmid 10620615] [evidence TAS]; Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 10802710] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 10198043] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10491003] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [pmid 8752280] [evidence TAS]; The process whose specific outcome is the progression of the immature germ cell over time, from its formation to the mature structure (gamete) [goid 7281] [evidence IEA]; The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.) [goid 7420] [evidence IEA]; The flow of blood through the body of an animal, enabling the transport of O2 and nutrients to the tissues and the removal of waste products [goid 8015] [pmid 10772939] [evidence TAS]; The process by which the migration of an axon growth cone of a motor neuron is directed to a specific target site in response to a combination of attractive and repulsive cues [goid 8045] [evidence IEA]; Any process that modulates the frequency, rate or extent of the assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament [goid 8064] [pmid 10570282] [evidence TAS]; The orderly movement of a germ cell, a cell specialized to produce haploid gametes, through the embryo from its site of production to the place where the gonads will form [goid 8354] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus [goid 9615] [pmid 10772939] [evidence TAS]; Any process that activates or increases the frequency, rate or extent of cell migration [goid 30335] [evidence IEA]; The expansion of a T cell population by cell division. Follows T cell activation [goid 42098] [evidence IEA]; Any process that initiates the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical [goid 50930] [evidence IEA]"	The function of a family of chemotactic pro-inflammatory activation-inducible cytokines acting primarily upon hemopoietic cells in immunoregulatory processes; all chemokines possess a number of conserved cysteine residues involved in intramolecular disulfide bond formation [goid 8009] [evidence IEA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 10802710] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 10491003] [evidence TAS]; The function of a family of chemotactic pro-inflammatory activation-inducible cytokines acting primarily upon hemopoietic cells in immunoregulatory processes; all chemokines possess a number of conserved cysteine residues involved in intramolecular disulfide bond formation [goid 8009] [evidence IEA]; The function of a family of chemotactic pro-inflammatory activation-inducible cytokines acting primarily upon hemopoietic cells in immunoregulatory processes; all chemokines possess a number of conserved cysteine residues involved in intramolecular disulfide bond formation [goid 8009] [pmid 10772939] [evidence TAS]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]	chemokine; TLSF-b; SDF1A; TPAR1; SDF-1b; TLSF-a; SDF1; PBSF; SDF1B; SCYB12; SDF-1a	chemokine; SDF1A; TPAR1; SDF1; SDF1B; SCYB12; TLSF-b; SDF-1b; TLSF-a; PBSF; SDF-1a
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_23714	ILMN_162580	OR2M7	NM_001004691.1	NM_001004691.1		391196	52317208	NM_001004691.1	OR2M7	NP_001004691.1	ILMN_1655713	7650348	S	771	CATGTGCATTCAGCCCACATCTCATCATTCTCCTATGCAGGACAAGATGG	1	-	246553673-246553722	1q44f	"Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	OR1-58	OR1-58
Ion channel -> Voltage-gated ion channel -> Voltage-gated calcium channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_10636	ILMN_10636	CACNG5	NM_014404.1	NM_014404.1		27091	7656949	NM_014404.1	CACNG5	NP_055219.1	ILMN_2242309	3120377	I	623	TGAGCCGGGGAGAGTGGGGATGGGGGAGAAGGGACATTCCACAACCATTT	17	+	62311293-62311342	17q24.2a	"Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]"	Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [pmid 10613843] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	MGC126656; MGC126682	MGC126656; MGC126682
Ion channel -> Voltage-gated ion channel -> Voltage-gated calcium channel	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_10636	ILMN_10636	CACNG5	NM_014404.1	NM_014404.1		27091	7656949	NM_014404.1	CACNG5	NP_055219.1	ILMN_1749402	3440731	A	519	CAAGTATGGGTGGTCGTTTGCCTTCGCCGCCATCTCCTTCCTTTTAACGG	17	+	62311189-62311238	17q24.2a	"Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of calcium (Ca) ions into, out of, within or between cells [goid 6816] [evidence IEA]"	Catalysis of the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons [goid 5244] [evidence IEA]; Catalysis of the transmembrane transfer of a calcium ion by a voltage-gated channel [goid 5245] [pmid 10613843] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	MGC126656; MGC126682	MGC126656; MGC126682
Cell adhesion molecule	Signal transduction -> Cell communication -> Cell adhesion-mediated signaling;Cell adhesion	Homo sapiens	RefSeq	ILMN_138128	ILMN_38193	VTN	NM_000638.3	NM_000638.3		7448	88853068	NM_000638.3	VTN	NP_000629.3	ILMN_1691127	1090008	S	1384	TGGGAGCCAACAACTATGATGACTACAGGATGGACTGGCTTGTGCCTGCC	17	-	23718902-23718951	17q11.2a	"Homo sapiens vitronectin (VTN), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 14718574] [evidence NAS]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 2418831] [evidence TAS]"	"Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat [goid 6955] [pmid 2418831] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 2418831] [evidence TAS]; The binding of a cell to the extracellular matrix via adhesion molecules [goid 7160] [evidence IEA]"	"Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic [goid 3824] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 12808446] [evidence IPI]; Interacting selectively with heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha1-4-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues [goid 8201] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	VNT; VN; V75	VNT; VN; V75
Signaling molecule -> Growth factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3013	ILMN_168344	BMP3	NM_001201.2	NM_001201.2		651	126507086	NM_001201.2	BMP3	NP_001192.2	ILMN_1682661	4900397	S	1586	AGTGAGAGCTGTGGGGGTCGTTCCTGGGATTCCTGAGCCTTGCTGTGTAC	4	+	82193561-82193610	4q21.21c	"Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [evidence IEA]"	"The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance [goid 1503] [evidence IEA]; Any process that mediates the transfer of information from one cell to another [goid 7267] [pmid 3201241] [evidence TAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [evidence IEA]; The process whereby relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate [goid 30154] [evidence IEA]; The process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate [goid 51216] [evidence IEA]"	"The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]; Functions to control the survival, growth, differentiation and effector function of tissues and cells [goid 5125] [evidence IEA]; The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation [goid 8083] [evidence IEA]"	BMP-3A	BMP-3A
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7033	ILMN_7033	GINS3	NM_022770.2	NM_022770.2		64785	21362087	NM_022770.2	GINS3	NP_073607.2	ILMN_1754272	3060192	S	1799	GGCCCATTAGACTGTTTGCAGGGCATCACTGCTTCCCCCTGACACCTCAC	16	+	56997199-56997248	16q21a	"Homo sapiens GINS complex subunit 3 (Psf3 homolog) (GINS3), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]		FLJ13912; PSF3	FLJ13912; PSF3
Nucleic acid binding -> Single-stranded DNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA repair;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA recombination;Nucleoside, nucleotide and nucleic acid metabolism -> DNA metabolism -> DNA replication;Cell cycle -> DNA replication	Homo sapiens	RefSeq	ILMN_14233	ILMN_181340	RPA4	NM_013347.2	NM_013347.2		29935	141801934	NM_013347.2	RPA4	NP_037479.1	ILMN_1798880	3870717	S	1120	TGATTATCTGACCGTTGAGGGCCACATCTATCCCACTGTGGATCGGGAGC	X	+	96026682-96026731	Xq21.33c	"Homo sapiens replication protein A4, 34kDa (RPA4), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A conserved heterotrimeric complex that binds nonspecifically to single-stranded DNA and is required for multiple processes in eukaryotic DNA metabolism, including DNA replication, DNA repair, and recombination. In all eukaryotic organisms examined the complex is composed of subunits of approximately 70, 30, and 14 kDa [goid 5662] [pmid 7760808] [evidence TAS]"	"The process whereby new strands of DNA are synthesized. The template for replication can either be an existing DNA molecule or RNA [goid 6260] [evidence IEA]; The process by which DNA replication is started; this involves the separation of a stretch of the DNA double helix, the recruitment of DNA polymerases and the initiation of polymerase action [goid 6270] [pmid 7760808] [evidence TAS]"	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with single-stranded DNA [goid 3697] [pmid 7760808] [evidence TAS]	HSU24186; MGC120334; MGC120333	HSU24186; MGC120334; MGC120333
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_165329	ILMN_165329	TMEM44	NM_138399.3	NM_138399.3		93109	58533180	NM_138399.3	TMEM44	NP_612408.2	ILMN_2388070	6380731	A	2254	CTGCGATGAGTAAGGGTAAGGGCGCATGGAATGGGGCTAAGGTGGGAGTG	3	-	195789732-195789781	3q29d	"Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			MGC131692; DKFZp686O18124; MGC163169	MGC163169; MGC131692; DKFZp686O18124
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_9152	ILMN_165329	TMEM44	NM_138399.3	NM_138399.3		93109	58533180	NM_138399.3	TMEM44	NP_612408.2	ILMN_1688848	2350279	A	2255	TGCGATGAGTAAGGGTAAGGGCGCATGGAATGGGGCTAAGGTGGGAGTGA	3	-	195789731-195789780	3q29d	"Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 1, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			MGC131692; DKFZp686O18124; MGC163169	MGC163169; MGC131692; DKFZp686O18124
Cell junction protein -> Tight junction	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_19617	ILMN_19617	CLDN14	NM_144492.1	NM_144492.1		23562	21536293	NM_144492.1	CLDN14	NP_652763.1	ILMN_1751174	2760382	I	545	TCCGGCTGGCAAGGGACCTGAACAGGAAGATGAGACTCGAGGTTTTCTGC	21	-	36773664-36773713	21q22.13a	"Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA."	"The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached) [goid 5783] [pmid 16780588] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 16780588] [evidence IDA]; A belt-like region of very close contact between the plasma membranes of adjacent cells so that the intercellular space is completely occluded. They occur in epithelia and brain endothelia [goid 5923] [evidence ISS]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]"	"The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 7644498] [evidence TAS]; The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound [goid 7605] [evidence IEA]; The attachment of one cell to another cell via adhesion molecules that do not require the presence of calcium for the interaction [goid 16338] [evidence ISS]"	The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with an identical protein or proteins [goid 42802] [evidence ISS]	DFNB29	DFNB29
Transcription factor -> Zinc finger transcription factor -> Other zinc finger transcription factor;Select regulatory molecule	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription;Signal transduction;Protein targeting and localization -> Protein targeting	Homo sapiens	RefSeq	ILMN_3230	ILMN_3230	WDFY3	NM_178583.1	NM_178583.1		23001	31317267	NM_178583.1	WDFY3	NP_848698.1	ILMN_1697493	5220538	I	3144	GGGGGAATCCAGGGTTCTCAGGCAGATTGTAGGAGAGCCACTTCATCTAG	4	-	85949346-85949395	4q21.23b	"Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), transcript variant 2, mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"		"The selective, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule [goid 5488] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]"	ALFY; KIAA0993; ZFYVE25; MGC16461	ALFY; KIAA0993; ZFYVE25; MGC16461
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Biological process unclassified	Homo sapiens	RefSeq	ILMN_2971	ILMN_2971	ZBTB11	NM_014415.2	NM_014415.2		27107	141802307	NM_014415.2	ZBTB11	NP_055230.1	ILMN_1691395	6040379	S	4801	CAGCTGTGTGGCTGACTTTCAATTTTAAGACGTGAATTGACATACAGCCC	3	-	102851170-102851219	3q12.3a	"Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	ZNF-U69274; FLJ13426; MGC133303	ZNF-U69274; FLJ13426; MGC133303
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_28950	ILMN_28950	OR8G2	NM_001007249.1	NM_001007249.1		26492	55925592	NM_001007249.1	OR8G2	NP_001007250.1	ILMN_1787330	5420286	S	585	CCCTCTCTTGGGGCTCTCCTGCTCCAGCACCTACATCAATGAATTACTGG	11	+	123601192-123601241	11q24.2a	"Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 9119360] [evidence NAS]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors [goid 7608] [pmid 9119360] [evidence NAS]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]; Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [pmid 9119360] [evidence NAS]	ORL486; OR8G4; TPCR120; OR8G2P; HSTPCR120; ORL206	OR8G4; TPCR120; HSTPCR120; ORL206; ORL486; OR8G2P
Signaling molecule -> Peptide hormone	Homeostasis -> Glucose homeostasis	Homo sapiens	RefSeq	ILMN_23390	ILMN_23390	CHGA	NM_001275.3	NM_001275.3		1113	134244286	NM_001275.3	CHGA	NP_001266.1	ILMN_1669410	6200348	S	1842	GCCCCACAACTTTAAACATTGACGATTCCTTCTCTGAACACAGGCAGCTT	14	+	92471190-92471239	14q32.12b	"Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]	The process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure [goid 8217] [pmid 8406464] [evidence TAS]	Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	CGA	CGA
		Homo sapiens	RefSeq	ILMN_1397	ILMN_306817	DDX11	NM_152438.1	NM_152438.1		1663	132566526	NM_152438.1	DDX11	NP_689651.1	ILMN_1712513	7100497	A	1885	TTGCAGCCCCTGCAGACGAGAGTCAGGCCAGCACCCTGCGACCAGCTTCT	12	+	31141063-31141112	12p11.21b	"Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) (DDX11), transcript variant 3, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 9013641] [evidence TAS]"	"The cell cycle process whereby replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets [goid 70] [pmid 9013641] [evidence TAS]; Progression through S phase, the part of the mitotic cell cycle during which DNA synthesis takes place [goid 84] [pmid 9013641] [evidence TAS]; Progression from G2 phase to M phase of the mitotic cell cycle [goid 86] [pmid 9013641] [evidence TAS]; The chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids [goid 6139] [evidence IEA]; The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; Any process that activates or increases the rate or extent of cell proliferation [goid 8284] [pmid 9013641] [evidence TAS]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate, driving the unwinding of the DNA helix [goid 4003] [evidence IEA]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of any acid anhydride which contains phosphorus [goid 16818] [evidence IEA]"	MGC133249; CHL1; KRG2; MGC9335; CHLR1	MGC133249; CHL1; KRG2; MGC9335; CHLR1
Receptor -> G-protein coupled receptor	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Sensory perception -> Chemosensory perception -> Olfaction	Homo sapiens	RefSeq	ILMN_7840	ILMN_176077	OR11G2	NM_001005503.1	NM_001005503.1		390439	53828743	NM_001005503.1	OR11G2	NP_001005503.1	ILMN_1660978	3780463	S	750	CTTCATTGTGGGGTCCTATGCTCTGGTCGTGAGAGCTGTGTTGAGGGTCC	14	+	19736084-19736133	14q11.2a	"Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA."				OR14-34	OR14-34
Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_1429	ILMN_17834	TFPI	NM_006287.4	NM_006287.4		7035	98991770	NM_006287.4	TFPI	NP_006278.1	ILMN_1662619	1340039	A	868	CAATGCTGTGAATAACTCCCTGACTCCGCAATCAACCAAGGTTCCCAGCC	2	-	188057101-188057150	2q32.1f	"Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2271516] [evidence EXP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP]"	A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP]	"Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]"	TFI; LACI; EPI	TFI; LACI; EPI
Select regulatory molecule -> Protease inhibitor -> Serine protease inhibitor	Protein metabolism and modification -> Proteolysis;Immunity and defense -> Blood clotting	Homo sapiens	RefSeq	ILMN_17834	ILMN_17834	TFPI	NM_006287.4	NM_006287.4		7035	98991770	NM_006287.4	TFPI	NP_006278.1	ILMN_1707124	4850731	I	931	CGGTCCCTCATGGTGTCTCACTCCAGCAGACAGAGGATTGTGTCGTGCCA	2	-	188040847-188040896	2q32.1f	"Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [pmid 2271516] [evidence EXP]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [pmid 2271516] [evidence EXP]"	A pathway of blood coagulation in which the earlier stages of the cascade are bypassed and the activation of factor X to factor Xa is effected by the combination of factor VIIa + thromboplastin; this second pathway occurs when tissue extracts are present in optimal amounts and is much more rapid than the intrinsic pathway [goid 7598] [pmid 7598447] [evidence EXP]	"Stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme [goid 4867] [evidence IEA]"	TFI; LACI; EPI	TFI; LACI; EPI
Phosphatase -> Protein phosphatase	Protein metabolism and modification -> Protein modification	Homo sapiens	RefSeq	ILMN_1542	ILMN_176353	DUSP13	NM_001007271.1	NM_001007271.1		51207	56117817	NM_001007271.1	DUSP13	NP_001007272.1	ILMN_1776240	2480523	I	535	GCAGCACCGATGGGTCTTCCCCAACCGAGGCTTCCTGCACCAGCTCTGCA	10	-	76535470-76535519	10q22.2c	"Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA."		"The process of removing one or more phosphoric residues from a protein [goid 6470] [pmid 10585869] [evidence TAS]; Progression through the nuclear division phase of a meiotic cell cycle, the specialized nuclear and cell division in which a single diploid cell undergoes two nuclear divisions following a single round of DNA replication in order to produce four daughter cells that contain half the number of chromosomes as the diploid cell. Meiotic division occurs during the formation of gametes from diploid organisms and at the beginning of haplophase in those organisms that alternate between diploid and haploid generations [goid 7126] [pmid 10585869] [evidence TAS]; The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis [goid 7283] [pmid 10585869] [evidence TAS]; The process of removing one or more phosphoric residues from a protein [goid 6470] [evidence IEA]"	"Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Catalysis of the reaction: protein serine/threonine/tyrosine phosphate + H2O = protein serine/threonine/tyrosine + phosphate [goid 8138] [pmid 10585869] [evidence TAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate [goid 4725] [evidence IEA]; Catalysis of the reaction: protein serine/threonine/tyrosine phosphate + H2O = protein serine/threonine/tyrosine + phosphate [goid 8138] [evidence IEA]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]; Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate [goid 16791] [evidence IEA]"	DUSP13A; TMDP; SKRP4; BEDP; MDSP; FLJ32450; DUSP13B	DUSP13A; TMDP; SKRP4; BEDP; MDSP; FLJ32450; DUSP13B
Transcription factor -> Zinc finger transcription factor -> KRAB box transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_8930	ILMN_8930	ZNF718	NM_001039127.2	NM_001039127.2		255403	116686096	NM_001039127.2	ZNF718	NP_001034216.1	ILMN_2131926	3360537	S	2095	GGGTCTTATTGTGCATATTTCATACTAGAAGAAAGCCCTGAAGCAGTTGC				4p16.3d	"Homo sapiens zinc finger protein 718 (ZNF718), mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]"	"Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"	Interacting selectively with any nucleic acid [goid 3676] [evidence IEA]; Interacting selectively with DNA (deoxyribonucleic acid) [goid 3677] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	FLJ90036	FLJ90036
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_15699	ILMN_15699	TMEM45B	NM_138788.3	NM_138788.3		120224	141802701	NM_138788.3	TMEM45B	NP_620143.1	ILMN_1771120	430541	S	2141	CAGGAGAGACATGCCTGTAGTTACATCCAGTGTGATGGGTGCTGAGAGGC	11	+	129235042-129235091	11q24.3b	"Homo sapiens transmembrane protein 45B (TMEM45B), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			FLJ40787	FLJ40787
Signaling molecule -> Peptide hormone	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19771	ILMN_19771	MSMB	NM_138634.1	NM_138634.1		4477	20302157	NM_138634.1	MSMB	NP_619540.1	ILMN_2376313	4150598	A	197	GAGGACTGCAAGTATATCGTGGTGGAGAAGAAGGACCCAAAAAAGACCTG	10	+	51232332-51232381	10q11.23b	"Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP57, mRNA."	"The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid [goid 5615] [pmid 7566962] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7566962] [evidence TAS]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]"	MSP; PRPS; MSPB; PN44; IGBF; PSP94; PSP57; PSP-94; PSP	MSP; PRPS; MSPB; PN44; IGBF; PSP94; PSP57; PSP-94; PSP
Nucleic acid binding -> Helicase -> RNA helicase	Nucleoside, nucleotide and nucleic acid metabolism	Homo sapiens	RefSeq	ILMN_2242	ILMN_2242	DDX1	NM_004939.1	NM_004939.1		1653	4826685	NM_004939.1	DDX1	NP_004930.1	ILMN_2182750	610324	S	2355	CTACGGTCAGAAAAGGGCTGCTGGTGGTGGAAGCTATAAAGGCCATGTGG	2	+	15687660-15687685:15688351-15688374	2p24.3b	"Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"The aggregation, arrangement and bonding together of the spliceosome, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions [goid 245] [pmid 7689221] [evidence NAS]; Any process that modulates the frequency, rate or extent of translational initiation [goid 6446] [pmid 7689221] [evidence NAS]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 7689221] [evidence IEP]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the reaction: NTP + H2O = NDP + phosphate to drive the unwinding of a RNA helix [goid 3724] [pmid 7689221] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17220478] [evidence IPI]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate to drive the unwinding of a DNA or RNA helix [goid 8026] [evidence NAS]; Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3 [goid 16787] [evidence IEA]"	UKVH5d; DBP-RB	UKVH5d; DBP-RB
Cytoskeletal protein -> Microtubule family cytoskeletal protein -> Tubulin	Intracellular protein traffic;Cell cycle -> Mitosis -> Chromosome segregation;Cell structure and motility -> Cell structure;Cell structure and motility -> Cell motility	Homo sapiens	RefSeq	ILMN_6156	ILMN_177408	TUBA3C	NM_006001.1	NM_006001.1		7278	17921992	NM_006001.1	TUBA3C	NP_005992.1	ILMN_1679482	160348	A	1081	AGATTGGTGCCCAACTGGATTTAAGGTGGGCATTAACTACCAGCCCCCCA	13	-	18646274-18646299:18649067-18649090	13q12.11a	"Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA."	"Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence NAS]; Any macromolecular complex composed of two or more polypeptide subunits, which may or may not be identical. Protein complexes may have other associated non-protein prosthetic groups, such as nucleotides, metal ions or carbohydrate groups [goid 43234] [evidence IEA]"	"Movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins [goid 7018] [evidence IEA]; The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein [goid 51258] [evidence IEA]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Catalysis of the reaction: GTP + H2O = GDP + phosphate [goid 3924] [evidence IEA]; The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell [goid 5198] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16189514] [evidence IPI]; Interacting selectively with GTP, guanosine triphosphate [goid 5525] [evidence NAS]"	TUBA2; bA408E5.3	TUBA2; bA408E5.3
Cytoskeletal protein -> Intermediate filament;Miscellaneous function -> Structural protein	Cell structure and motility -> Cell structure	Homo sapiens	RefSeq	ILMN_3360	ILMN_3360	KRTAP10-12	NM_198699.1	NM_198699.1		386685	38490586	NM_198699.1	KRTAP10-12	NP_941972.1	ILMN_1754009	1030068	S	788	AGTCCAGCTGCTGCCAGGCATGTCCCCCAGGGCCACTGGGCACTATGAGT	21	+	44942302-44942351	21q22.3d	"Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA."	"A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins [goid 45095] [evidence IEA]; A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins [goid 45095] [evidence IEA]"			KRTAP18-12; KAP10.12; KRTAP18.12	KRTAP18-12; KAP10.12; KRTAP18.12
Nucleic acid binding -> Other RNA-binding protein	Nucleoside, nucleotide and nucleic acid metabolism -> Nucleoside, nucleotide and nucleic acid transport;Transport -> Nucleoside, nucleotide and nucleic acid transport	Homo sapiens	RefSeq	ILMN_4427	ILMN_5308	NXF5	NM_032946.1	NM_032946.1		55998	15487659	NM_032946.1	NXF5	NP_116564.1	ILMN_1687265	1710593	A	1491	GATCTTGCCTTCATGTGGACCTTCATCACTACCTCTGGCCGCAATTCCAG	X	-	100977830-100977830:100978362-100978410	Xq22.1d	"Homo sapiens nuclear RNA export factor 5 (NXF5), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 11566096] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11566096] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 18029348] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 18029348] [evidence IDA]"	"The directed movement of mRNA from the nucleus to the cytoplasm [goid 6406] [pmid 11566096] [evidence IDA]; The directed movement of substances (such as macromolecules, small molecules, ions) into, out of, within or between cells, or within a multicellular organism [goid 6810] [evidence IEA]; The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult) [goid 7275] [pmid 11566096] [evidence IEP]"	"Interacting selectively with a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose moiety [goid 166] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 11566096] [evidence IDA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11566096] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]"
Transporter -> Other transporter	Phosphate metabolism -> Phosphate transport;Transport -> Phosphate transport;Transport -> Ion transport -> Cation transport;Homeostasis -> Other homeostasis activities	Homo sapiens	RefSeq	ILMN_25201	ILMN_25201	SLC34A1	NM_003052.2	NM_003052.2		6569	31543634	NM_003052.2	SLC34A1	NP_003043.2	ILMN_1659991	990082	S	2334	GACTAGGATAGGCAGGAGTAAGGGTGGGTCTGGGTATATGACTGTGCAGC	5	+	176758226-176758275	5q35.3a	"Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), mRNA."	"Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 8327470] [evidence TAS]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid [goid 6796] [pmid 8327470] [evidence TAS]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of sodium ions (Na+) into, out of, within or between cells [goid 6814] [evidence IEA]; The directed movement of phosphate into, out of, within or between cells [goid 6817] [pmid 8327470] [evidence TAS]; The regulated release of a fluid by a cell or group of cells in a multicellular organism [goid 7589] [pmid 8693007] [evidence TAS]; The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis [goid 46849] [evidence IEA]"	Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence ISS]; Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy [goid 15293] [evidence IEA];  [goid 15321] [pmid 8327470] [evidence TAS]; Interacting selectively with sodium ions (Na+) [goid 31402] [evidence IEA]	NPT2; SLC11; NAPI-3; NPTIIa; SLC17A2	NPT2; SLC11; NPTIIa; SLC17A2; NAPI-3
Nucleic acid binding -> Centromere DNA-binding protein;Synthase and synthetase -> Synthase	Nucleoside, nucleotide and nucleic acid metabolism -> rRNA metabolism;Cell cycle -> Mitosis -> Chromosome segregation	Homo sapiens	RefSeq	ILMN_2775	ILMN_2775	DKC1	NM_001363.2	NM_001363.2		1736	15011921	NM_001363.2	DKC1	NP_001354.1	ILMN_1671257	6980327	S	2207	GTACAGTGCTCACCTAAATCCATCTGACTACTTGTTCCTGTGCCCTCTTG	X	+	153658907-153658956	Xq28g	"Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; That part of the nuclear content other than the chromosomes or the nucleolus [goid 5654] [pmid 10556300] [evidence TAS]; Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits [goid 5697] [pmid 12135483] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 10556300] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 18029348] [evidence IDA]; A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome [goid 5730] [pmid 18029348] [evidence IDA]"	"The intramolecular conversion of uridine to pseudouridine within an RNA molecule. This posttranscriptional base modification occurs in tRNA, rRNA, and snRNAs [goid 1522] [evidence IEA]; Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules [goid 6364] [pmid 10556300] [evidence TAS]; Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules [goid 6396] [pmid 9590285] [evidence TAS]; The maintenace of proper telomeric length by the addition of telomeric repeats by telomerase [goid 7004] [pmid 10591218] [evidence TAS]; The multiplication or reproduction of cells, resulting in the expansion of a cell population [goid 8283] [pmid 10591218] [evidence TAS]; The intramolecular conversion of uridine to pseudouridine within an RNA molecule. This posttranscriptional base modification occurs in tRNA, rRNA, and snRNAs [goid 1522] [evidence IEA]; The intramolecular conversion of uridine to pseudouridine within an RNA molecule. This posttranscriptional base modification occurs in tRNA, rRNA, and snRNAs [goid 1522] [evidence IEA]"	Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Catalyzes extension of the 3'- end of a DNA strand by one deoxynucleotide at a time using an internal RNA template that encodes the telomeric repeat sequence [goid 3720] [pmid 12135483] [evidence IDA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [pmid 10591218] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16618814] [evidence IPI]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16601202] [evidence IPI]; Catalysis of the reaction: RNA uridine = RNA pseudouridine. Conversion of uridine in an RNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5 [goid 9982] [evidence IEA]; Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5 [goid 16853] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the reaction: RNA uridine = RNA pseudouridine. Conversion of uridine in an RNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5 [goid 9982] [evidence IEA]; Interacting selectively with an RNA molecule or a portion thereof [goid 3723] [evidence IEA]; Catalysis of the reaction: RNA uridine = RNA pseudouridine. Conversion of uridine in an RNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5 [goid 9982] [evidence IEA]	NAP57; XAP101; dyskerin; DKC; NOLA4	NAP57; NOLA4; XAP101; dyskerin; DKC
Molecular function unclassified	Cell cycle -> Cell cycle control;Cell cycle -> Other cell cycle process	Homo sapiens	RefSeq	ILMN_18543	ILMN_18543	BRMS1	NM_001024958.1	NM_001024958.1		25855	68348703	NM_001024958.1	BRMS1	NP_001020129.1	ILMN_2398432	4570102	A	646	AAGATGCCAGGCCCCCCAGGTGTTCTCAGGGCAGTTCTTGGTGTCTGCTT	11	-	65861424-65861473	11q13.1e	"Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 3, mRNA."	"The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together [goid 5575] [evidence ND ]"	"Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end [goid 8150] [evidence ND ]; Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle [goid 45786] [evidence IEA]; Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level [goid 9987] [evidence IEA]"	"Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions [goid 3674] [evidence ND ]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 16919237] [evidence IPI]"	DKFZp564A063	DKFZp564A063
Select regulatory molecule	Transport -> Ion transport -> Cation transport	Homo sapiens	RefSeq	ILMN_29157	ILMN_29157	KCTD18	NM_152387.2	NM_152387.2		130535	45387952	NM_152387.2	KCTD18	NP_689600.2	ILMN_2150187	3140048	S	2265	CAAGGCGAGCTGCCTACAAATTACTCTGTCTCCAAAGGCAACGTGAAAAG	2	-	201062551-201062600	2q33.1e	"Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA."	"A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential [goid 8076] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]"	"The directed movement of potassium ions (K+) into, out of, within or between cells [goid 6813] [evidence IEA]"	Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel [goid 5249] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	FLJ31322; 6530404F10Rik; FLJ37818	FLJ31322; 6530404F10Rik; FLJ37818
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_167134	ILMN_167134	SPRN	NM_001012508.2	NM_001012508.2		503542	61676081	NM_001012508.2	SPRN	NP_001012526.2	ILMN_2132898	2340458	S	2886	AATGCAGAATCCCACTACCCGTGAGCTAGAAGGTGCTCAGAGGCCAGGGG	10	-	135084352-135084401	10q26.3f	"Homo sapiens shadow of prion protein homolog (zebrafish) (SPRN), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Tethered to a membrane by a covalently attached anchor, such as a lipid moiety, that is embedded in the membrane. When used to describe a protein, indicates that none of the peptide sequence is embedded in the membrane [goid 31225] [evidence IEA]"			FLJ41197; SHO; bA108K14.1	FLJ41197; SHO; bA108K14.1
Receptor -> Ligand-gated ion channel -> Other ligand-gated ion channel;Ion channel -> Ligand-gated ion channel -> Other ligand-gated ion channel	Signal transduction -> Cell surface receptor mediated signal transduction -> G-protein mediated signaling;Signal transduction -> Cell communication;Transport -> Ion transport -> Cation transport;Neuronal activities -> Synaptic transmission -> Nerve-nerve synaptic transmission	Homo sapiens	RefSeq	ILMN_23767	ILMN_162507	HTR3A	NM_213621.1	NM_213621.1		3359	47519840	NM_213621.1	HTR3A	NP_998786.1	ILMN_1681492	6620743	I	1078	GCTCAGTCTGGTGAGAAACCCGCCCCCTCCCACCTCCTGCATGTGTCTCT	11	+	113362684-113362733	11q23.2a	"Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA."	"Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 7565620] [evidence TAS]; A specialized region of connection between two cells or between a cell and the extracellular matrix [goid 30054] [evidence IEA]; The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane [goid 45202] [evidence IEA]; A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters across the synaptic cleft and transmit the signal to the postsynaptic membrane [goid 45211] [evidence IEA]"	"The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The directed movement of charged atoms or small charged molecules into, out of, within or between cells [goid 6811] [evidence IEA]; The process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse [goid 7268] [pmid 7565620] [evidence TAS]; The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism [goid 7586] [pmid 7565620] [evidence TAS]"	"Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence IEA]; Combining with a neurotransmitter to initiate a change in cell activity [goid 30594] [evidence IEA]; Combining with the biogenic amine serotonin, a neurotransmitter and hormone found in vertebrates, invertebrates and plants, to initiate a change in cell activity [goid 4993] [evidence NAS]; Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism [goid 5216] [evidence IEA]; Catalysis of the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts [goid 5230] [evidence NAS];  [goid 5232] [pmid 7565620] [evidence TAS]; Combining with a neurotransmitter to initiate a change in cell activity [goid 30594] [evidence IEA]"	5HT3R; HTR3; 5-HT3R; 5-HT3A; 5-HT-3	5HT3R; HTR3; 5-HT3R; 5-HT3A; 5-HT-3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_177304	ILMN_177304	FLJ22167	NM_001077419.1	NM_001077419.1		79583	116734686	NM_001077419.1	FLJ22167	NP_001070887.1	ILMN_2394523	7050014	A	2431	CCCGGTGATCCATGCTTCATGCCCACCCAGAAACACACCCCTCAGTGTGT	16	-	74130049-74130098	16q23.1a	"Homo sapiens hypothetical protein FLJ22167 (FLJ22167), transcript variant 3, mRNA."				ALYE870; PRO1886	ALYE870; PRO1886
Receptor;Extracellular matrix	Signal transduction -> Cell surface receptor mediated signal transduction -> Other receptor mediated signaling pathway;Developmental processes	Homo sapiens	RefSeq	ILMN_4242	ILMN_178299	LRRTM2	NM_015564.1	NM_015564.1		26045	7662101	NM_015564.1	LRRTM2	NP_056379.1	ILMN_1748245	7150717	S	5355	GGCACACTTCCTACACACAGCTATCAGGGGAAAAAGCTATAAATGTCCTG	5	-	138233153-138233202	5q31.2d	"Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"		Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]
Extracellular matrix -> Extracellular matrix glycoprotein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_7295	ILMN_7295	ADAMTSL3	NM_207517.2	NM_207517.2		57188	145275197	NM_207517.2	ADAMTSL3	NP_997400.2	ILMN_1798690	6280286	S	6913	GTGATTGGGAATGGATGGGGGACAGTGAGGAGGACACACCAGCCCATTAG	15	+	82499175-82499224	15q25.2b	"Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [evidence IEA]		"Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid [goid 8233] [evidence IEA]; Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions [goid 8237] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]"	MGC150716; MGC150717; KIAA1233	MGC150716; MGC150717; KIAA1233
Signaling molecule -> Other signaling molecule;Select regulatory molecule -> Other enzyme regulator;Extracellular matrix -> Other extracellular matrix	Immunity and defense -> Blood clotting;Developmental processes -> Other developmental process	Homo sapiens	RefSeq	ILMN_15049	ILMN_15049	COMP	NM_000095.2	NM_000095.2		1311	40217842	NM_000095.2	COMP	NP_000086.2	ILMN_1677636	2360148	S	2274	AGAGGACTATGAGACCCATCAGCTGCGGCAAGCCTAGGGACCAGGGTGAG	19	-	18754711-18754724:18754725-18754760	19p13.11b	"Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA."	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite [goid 5576] [evidence IEA]; A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity [goid 5578] [pmid 7713493] [evidence TAS]	"The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) [goid 1501] [pmid 7670472] [evidence TAS]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [evidence IEA]; Morphogenesis of an organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process by which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions [goid 9887] [pmid 7713493] [evidence TAS]"	The action of a molecule that contributes to the structural integrity of the extracellular matrix [goid 5201] [pmid 7713493] [evidence TAS]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [pmid 7670472] [evidence TAS]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]	MGC149768; MED; PSACH; EPD1; MGC131819; EDM1; THBS5	MGC149768; PSACH; MGC131819; EDM1; MED; EPD1; THBS5
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_11543	ILMN_11543	XKR3	NM_175878.3	NM_175878.3		150165	103471990	NM_175878.3	XKR3	NP_787074.2	ILMN_1803609	3170730	S	1301	CCCATGGCAGTCAGGCAAAGTGTTGCCAGGACGTACTGAAAATCAGCCAG	22	-	15644636-15644685	22q11.1d	"Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"			MGC57211; XTES; XRG3	MGC57211; XTES; XRG3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3227	ILMN_166400	C20ORF86	XM_001134462.1	XM_001134462.1		140731	113428998	XM_001134462.1	C20orf86	XP_001134462.1	ILMN_1751045	4040053	S	803	GGGCCTCCATCCACGACAGAGATGCCAAGGGGGAGACCCCCATCTCCATT				20q13.32a	"PREDICTED: Homo sapiens chromosome 20 open reading frame 86 (C20orf86), mRNA."
		Homo sapiens	RefSeq	ILMN_9207	ILMN_9207	LOC606724	NR_002454.2	NR_002454.2		606724	73760411	NR_002454.2	LOC606724		ILMN_2125747	5670372	S	198	GAGGAGATGCGGAAGCTCCAGGCCACGGTGCAGGAGCTCCAGAAGCGCTT	16	+	29368364-29368413	16p11.2d	"Homo sapiens coronin, actin binding protein, 1A pseudogene (LOC606724), non-coding RNA."
Transferase -> Nucleotidyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism	Homo sapiens	RefSeq	ILMN_24416	ILMN_24416	UGP2	NM_006759.3	NM_006759.3		7360	48255965	NM_006759.3	UGP2	NP_006750.3	ILMN_2389155	150706	A	1657	GATATGCTTGAATTGGATCACCTCACAGTTTCAGGAGATGTGACATTTGG	2	+	63970755-63970804	2p15a	"Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence NAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8354390] [evidence EXP]"	"The chemical reactions and pathways involving UDP-glucose, uridinediphosphoglucose, a substance composed of glucose in glycosidic linkage with uridine diphosphate [goid 6011] [pmid 8631325] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide [goid 16310] [evidence NAS]"	"Catalysis of the reaction: UTP + alpha-D-glucose 1-phosphate = diphosphate + UDP-glucose [goid 3983] [pmid 8354390] [evidence TAS]; Catalysis of the reaction: UTP + alpha-D-glucose 1-phosphate = diphosphate + UDP-glucose [goid 3983] [pmid 8354390] [evidence EXP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a nucleotidyl group to a reactant [goid 16779] [evidence IEA]"	UGPP2; UDPG; pHC379; UDPGP2	UGPP2; pHC379; UDPG; UDPGP2
Transferase -> Nucleotidyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism	Homo sapiens	RefSeq	ILMN_24416	ILMN_24416	UGP2	NM_006759.3	NM_006759.3		7360	48255965	NM_006759.3	UGP2	NP_006750.3	ILMN_2284181	1010500	I	195	GGAGAAAGAATACATCGGTTGTTAAAGCAGGAGAGGAAGAGAGACCTGCC	2	+	63922712-63922761	2p15a	"Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence NAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8354390] [evidence EXP]"	"The chemical reactions and pathways involving UDP-glucose, uridinediphosphoglucose, a substance composed of glucose in glycosidic linkage with uridine diphosphate [goid 6011] [pmid 8631325] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide [goid 16310] [evidence NAS]"	"Catalysis of the reaction: UTP + alpha-D-glucose 1-phosphate = diphosphate + UDP-glucose [goid 3983] [pmid 8354390] [evidence TAS]; Catalysis of the reaction: UTP + alpha-D-glucose 1-phosphate = diphosphate + UDP-glucose [goid 3983] [pmid 8354390] [evidence EXP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a nucleotidyl group to a reactant [goid 16779] [evidence IEA]"	UGPP2; UDPG; pHC379; UDPGP2	UGPP2; pHC379; UDPG; UDPGP2
Transferase -> Nucleotidyltransferase	Carbohydrate metabolism -> Other polysaccharide metabolism	Homo sapiens	RefSeq	ILMN_24416	ILMN_24416	UGP2	NM_006759.3	NM_006759.3		7360	48255965	NM_006759.3	UGP2	NP_006750.3	ILMN_2389151	3930035	A	1466	TGCCAAGGAGCCGTTTTCTGCCTGTCAAAACCACATCAGATCTCTTGCTG	2	+	63968128-63968177	2p15a	"Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence NAS]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [pmid 8354390] [evidence EXP]"	"The chemical reactions and pathways involving UDP-glucose, uridinediphosphoglucose, a substance composed of glucose in glycosidic linkage with uridine diphosphate [goid 6011] [pmid 8631325] [evidence TAS]; The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation [goid 8152] [evidence IEA]; The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide [goid 16310] [evidence NAS]"	"Catalysis of the reaction: UTP + alpha-D-glucose 1-phosphate = diphosphate + UDP-glucose [goid 3983] [pmid 8354390] [evidence TAS]; Catalysis of the reaction: UTP + alpha-D-glucose 1-phosphate = diphosphate + UDP-glucose [goid 3983] [pmid 8354390] [evidence EXP]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 17353931] [evidence IPI]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the transfer of a nucleotidyl group to a reactant [goid 16779] [evidence IEA]"	UGPP2; UDPG; pHC379; UDPGP2	UGPP2; pHC379; UDPG; UDPGP2
Transcription factor -> Transcription cofactor;Nucleic acid binding -> Chromatin/chromatin-binding protein;Transferase -> Acetyltransferase	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation	Homo sapiens	RefSeq	ILMN_2600	ILMN_162321	CREBBP	NM_001079846.1	NM_001079846.1		1387	119943101	NM_001079846.1	CREBBP	NP_001073315.1	ILMN_1809583	6840148	S	7927	GGGCGTCTCCCAGTATTACCCTGGATGATAGGAATTGACTCCGGCGTGCA	16	-	3717162-3717211	16p13.3c	"Homo sapiens CREB binding protein (CREBBP), transcript variant 2, mRNA."	"A protein complex that possesses histone acetyltransferase activity [goid 123] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12169688] [evidence IC ]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 7913207] [evidence TAS]"	"A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level [goid 1666] [pmid 15261140] [evidence TAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [pmid 12169688] [evidence IDA]; The aggregation, arrangement and bonding together of a set of components to form a protein complex [goid 6461] [pmid 7913207] [evidence TAS]; The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 15261140] [evidence NAS]; The modification of histones by addition of acetyl groups [goid 16573] [pmid 11742995] [evidence IDA]; The acetylation of the N-terminal lysine of proteins [goid 18076] [pmid 12435739] [evidence IDA]; Any biological process involved in the maintenance of an internal equilibrium [goid 42592] [pmid 15261140] [evidence NAS]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [evidence ISS]; Any process that activates or increases the frequency, rate or extent of transcription [goid 45941] [pmid 11742995] [evidence IDA]"	"The function of binding to a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex [goid 3700] [pmid 7913207] [evidence TAS]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 12586840] [evidence IDA]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 12435739] [evidence IDA]; The function of a transcription cofactor that activates transcription from a RNA polymerase II promoter; does not bind DNA itself [goid 3713] [pmid 8684459] [evidence IPI]; Catalysis of the reaction: acetyl-CoA + histone = CoA + acetyl-histone [goid 4402] [pmid 11742995] [evidence IDA]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 8028671] [evidence TAS]; Mediates the transfer of a signal from the outside to the inside of a cell by means other than the introduction of the signal molecule itself into the cell [goid 4871] [pmid 7913207] [evidence TAS]; Interacting selectively with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator [goid 5524] [evidence IEA]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Catalysis of the transfer of an acetyl group to an acceptor molecule [goid 16407] [pmid 11742995] [evidence IDA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]; Catalysis of the reaction: ATP + H2O = ADP + phosphate. May or may not be coupled to another reaction [goid 16887] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]; Interacting selectively with the muscle regulatory factor MyoD [goid 51577] [pmid 8621548] [evidence IDA]"	CBP; KAT3A; RTS; RSTS	CBP; KAT3A; RTS; RSTS
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_22608	ILMN_22608	VISA	NM_020746.2	NM_020746.2		57506	83776597	NM_020746.2	VISA	NP_065797.2	ILMN_2131493	6900020	S	2718	TAGAGCTGAGGGCATGAGAGGCAGAGTGCACAGTGGTCAAGGGTGCAGCT	20	+	3795755-3795804	20p13b	"Homo sapiens virus-induced signaling adapter (VISA), mRNA."				IPS-1; FLJ27482; CARDIF; FLJ41962; MAVS; DKFZp666M015; KIAA1271	IPS-1; FLJ27482; CARDIF; FLJ41962; MAVS; DKFZp666M015; KIAA1271
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14772	ILMN_14772	TRIM14	NM_033220.1	NM_033220.1		9830	15208666	NM_033220.1	TRIM14	NP_150089.1	ILMN_1772689	4120673	I	1425	CTTTCTCACTCAGCATCATTTCCTTGAGATGCATCCAGGCTGCTGCACGC	9	-	99871691-99871740	9q22.33b	"Homo sapiens tripartite motif-containing 14 (TRIM14), transcript variant 3, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11331580] [evidence IDA]"	The regionalization process by which embryonic segments are divided into compartments that will result in differences in cell differentiation [goid 7386] [pmid 11331580] [evidence IDA]	Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11331580] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA0129	KIAA0129
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14772	ILMN_14772	TRIM14	NM_033220.1	NM_033220.1		9830	15208666	NM_033220.1	TRIM14	NP_150089.1	ILMN_1677542	5690731	A	535	GATCCTGTCCAGAGGCTTCAGGCATACACGGCCACCGAGCAGGAGATGCA	9	-	99897103-99897132:99902034-99902053	9q22.33b	"Homo sapiens tripartite motif-containing 14 (TRIM14), transcript variant 3, mRNA."	"The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm [goid 5622] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 11331580] [evidence IDA]"	The regionalization process by which embryonic segments are divided into compartments that will result in differences in cell differentiation [goid 7386] [pmid 11331580] [evidence IDA]	Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11331580] [evidence TAS]; Interacting selectively with zinc (Zn) ions [goid 8270] [evidence IEA]; Interacting selectively with any metal ion [goid 46872] [evidence IEA]	KIAA0129	KIAA0129
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_17674	ILMN_17674	OR52H1	NM_001005289.1	NM_001005289.1		390067	52627165	NM_001005289.1	OR52H1	NP_001005289.1	ILMN_1770701	6020601	S	680	CACACATCCTCTGTGCTGTCTTTGGCCTTCCCTCCCAAGATGCCTGCCAG	11	-	5522600-5522649	11p15.4c	"Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA."	"The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [evidence IEA]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; Combining with airborne compounds to initiate a change in cell activity. These receptors are used for the sense of smell [goid 4984] [evidence IEA]	OR11-41; OR11-45	OR11-41; OR11-45
Cytoskeletal protein -> Microtubule family cytoskeletal protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_22293	ILMN_22293	KLC1	NM_005552.4	NM_005552.4		3831	110735429	NM_005552.4	KLC1	NP_005543.2	ILMN_1654653	1510736	I	2440	GCTCGGACTCCGGGTCTCCCTAGGATATGCCCCAGTAGCATTTGCTGTGT	14	+	103222158-103222207	14q32.33a	"Homo sapiens kinesin light chain 1 (KLC1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence ISS]; Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work [goid 5871] [evidence IEA]; Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work [goid 5871] [evidence ISS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm [goid 35253] [evidence IEA]"	The directed movement of organelles or molecules along microtubules in nerve cell axons [goid 8088] [evidence IEA]	"Catalysis of movement along a microtubule, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 3777] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11238452] [evidence IPI]"	KNS2; KLC1; KLC; KNS2A; MGC15245	KLC1; KLC; KNS2; KNS2A; MGC15245
Cytoskeletal protein -> Microtubule family cytoskeletal protein	Intracellular protein traffic -> General vesicle transport	Homo sapiens	RefSeq	ILMN_29662	ILMN_22293	KLC1	NM_005552.4	NM_005552.4		3831	110735429	NM_005552.4	KLC1	NP_005543.2	ILMN_1726901	4250706	A	1874	TGAGAGCCTCAACGTGGACGTGGTCAAGTACGAGAGTGGCCCTGACGGAG	14	+	103215551-103215600	14q32.33a	"Homo sapiens kinesin light chain 1 (KLC1), transcript variant 1, mRNA."	"All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence IEA]; That part of the cytoplasm that does not contain membranous or particulate subcellular components [goid 5829] [evidence ISS]; Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work [goid 5871] [evidence IEA]; Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work [goid 5871] [evidence ISS]; Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle [goid 5874] [evidence IEA]; The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter [goid 30424] [evidence IEA]; A vesicle formed of membrane or protein, found in the cytoplasm of a cell [goid 31410] [evidence IEA]; A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm [goid 35253] [evidence IEA]"	The directed movement of organelles or molecules along microtubules in nerve cell axons [goid 8088] [evidence IEA]	"Catalysis of movement along a microtubule, coupled to the hydrolysis of a nucleoside triphosphate (usually ATP) [goid 3777] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [evidence IEA]; Interacting selectively with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules) [goid 5515] [pmid 11238452] [evidence IPI]"	KNS2; KLC1; KLC; KNS2A; MGC15245	KLC1; KLC; KNS2; KNS2A; MGC15245
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_26786	ILMN_26786	TAS2R3	NM_016943.2	NM_016943.2		50831	67944636	NM_016943.2	TAS2R3	NP_058639.1	ILMN_1718253	70703	S	707	GCAAAATGGGACAAGCTCCAGAGATCCAACCACTGAGGCCCACAAGAGGG	7	+	141111072-141111121	7q34e	"Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 10761934] [evidence IC ]"	"The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately effecting a change in the functioning of the cell [goid 7165] [pmid 10761934] [evidence TAS]; The series of molecular signals generated as a consequence of a G-protein coupled receptor binding to its physiological ligand [goid 7186] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus [goid 50896] [evidence IEA]; The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells [goid 50909] [pmid 10761934] [evidence TAS]"	Combining with an extracellular or intracellular messenger to initiate a change in cell activity [goid 4872] [evidence IEA]; A receptor that binds an extracellular ligand and transmits the signal to a heterotrimeric G-protein complex. These receptors are characteristically seven-transmembrane receptors and are made up of hetero- or homodimers [goid 4930] [evidence IEA]; Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste [goid 8527] [pmid 10761934] [evidence TAS]	T2R3	T2R3
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_3231	ILMN_3231	TMEM52	NM_178545.2	NM_178545.2		339456	31341734	NM_178545.2	TMEM52	NP_848640.1	ILMN_1668246	4810255	S	631	AGTCGGGCCCCAATACTCAACTACCACCTTGTAGCCCTGGTGCCCCTTGA	1	-	1839133-1839180:1839181-1839182	1p36.33a	"Homo sapiens transmembrane protein 52 (TMEM52), mRNA."	"Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"
Transcription factor -> Other transcription factor;Nucleic acid binding	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Apoptosis;Cell proliferation and differentiation	Homo sapiens	RefSeq	ILMN_27029	ILMN_165058	CEBPA	NM_004364.2	NM_004364.2		1050	28872793	NM_004364.2	CEBPA	NP_004355.2	ILMN_1715715	1430280	S	2050	GCCCCAGCAGTGCCTTGTGCAATGTGAATGTGCGCGTCTCTGCTAAACCA	19	-	38483061-38483110	19q13.11b	"Homo sapiens CCAAT/enhancer binding protein (C/EBP), alpha (CEBPA), mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7575576] [evidence NAS]"	"The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances [goid 6091] [pmid 8643605] [evidence TAS]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [pmid 15664994] [evidence IDA]; The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [pmid 7575576] [evidence NAS]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]; The synthesis of RNA from a DNA template by RNA polymerase II (Pol II), originating at a Pol II-specific promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs) [goid 6366] [pmid 8643605] [evidence TAS]; Any series of molecular signals generated as a consequence of a cytokine or chemokine binding to a cell surface receptor [goid 19221] [pmid 15664994] [evidence NAS]; The process whereby a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages [goid 30099] [pmid 15664994] [evidence NAS]; Any process by which an organism has an effect on an organism of a different species [goid 44419] [evidence IEA]"	"Functions to initiate or regulate RNA polymerase II transcription by binding an enhancer region of DNA [goid 3705] [pmid 7575576] [evidence NAS]; Interacting selectively with a transcription factor, any protein required to initiate or regulate transcription [goid 8134] [pmid 15664994] [evidence IPI]; Interacting selectively with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding [goid 43565] [evidence IEA]; The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits [goid 46983] [evidence IEA]"	CEBP; C/EBP-alpha	CEBP; C/EBP-alpha
		Homo sapiens	RefSeq	ILMN_163029	ILMN_163029	LOC441282	NM_001080538.1	NM_001080538.1		441282	122937515	NM_001080538.1	LOC441282	NP_001074007.1	ILMN_2278335	2760274	I	858	GGCAACCATACTCAGCTTCAACAGAAACTGGAGGGCCTTTGACTTCAAGG	7	+	133913028-133913077	7q33b	"Homo sapiens similar to aldo-keto reductase family 1, member B10 (LOC441282), mRNA."
Transferase -> Glycosyltransferase	Protein metabolism and modification -> Protein modification -> Protein glycosylation	Homo sapiens	RefSeq	ILMN_14361	ILMN_14361	B3GALT2	NM_003783.2	NM_003783.2		8707	15451871	NM_003783.2	B3GALT2	NP_003774.1	ILMN_1709907	4590008	S	2929	GCATGTCTGCCAAAATGCAACATACGGGAAGTTTATTTCCTGACAGCAGG	1	-	191415033-191415082	1q31.2b	"Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA."	"The lipid bilayer surrounding any of the compartments of the Golgi apparatus [goid 139] [evidence IEA]; A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions [goid 5794] [evidence IEA]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [evidence IEA]"	"The addition of a sugar unit to a protein amino acid, e.g. the addition of glycan chains to proteins [goid 6486] [pmid 9417100] [evidence TAS]; The chemical reactions and pathways resulting in the formation of oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages [goid 9312] [evidence IEA]"	"Catalysis of the transfer of a galactosyl group to an acceptor molecule, typically another carbohydrate or a lipid [goid 8378] [evidence IEA]; Catalysis of the reaction: UDP-galactose + N-acetylglucosamine = galactose-beta-1,3-N-acetylglucosamine + UDP [goid 8499] [pmid 9417100] [evidence TAS]; Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor) [goid 16757] [evidence IEA]; Interacting selectively with manganese (Mn) ions [goid 30145] [evidence IEA]"	BETA3GALT2; GLCT2; beta3Gal-T2	beta3Gal-T2; BETA3GALT2; GLCT2
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_19554	ILMN_19554	C1ORF102	NM_145047.3	NM_145047.3		127700	45643132	NM_145047.3	C1orf102	NP_659484.3	ILMN_1658206	6550554	I	1112	GTTATCAACATACAAGCCACCCAGGACCAGCAACGGAGCGAGGAGCTGGC	1	-	36656417-36656443:36657179-36657201	1p34.3d	"Homo sapiens chromosome 1 open reading frame 102 (C1orf102), transcript variant 1, mRNA."				NOR1; MGC26685; OSCP1	NOR1; MGC26685; OSCP1
Transcription factor	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription	Homo sapiens	RefSeq	ILMN_25765	ILMN_25765	CNOT1	NM_206999.1	NM_206999.1		23019	46275836	NM_206999.1	CNOT1	NP_996882.1	ILMN_1677840	4780154	I	4731	AGTTGGCTATTTCCTTGGTATAGGTACAAAACGTATTACTGCTTGTCTGT	16	-	57134958-57135007	16q21a	"Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 2, mRNA."		"The synthesis of either RNA on a template of DNA or DNA on a template of RNA [goid 6350] [evidence IEA]; Any process that modulates the frequency, rate or extent of DNA-dependent transcription [goid 6355] [evidence IEA]"		DKFZp686E0722; CDC39; FLJ90644; AD-005; DKFZp686O168; NOT1; KIAA1007; NOT1H; FLJ36492	FLJ90644; DKFZp686O168; NOT1H; FLJ36492; DKFZp686E0722; CDC39; AD-005; NOT1; KIAA1007
Molecular function unclassified	Biological process unclassified	Homo sapiens	RefSeq	ILMN_14735	ILMN_14735	CAMSAP1L1	NM_203459.1	NM_203459.1		23271	44955928	NM_203459.1	CAMSAP1L1	NP_982284.1	ILMN_1792660	6280209	S	7173	GGTTTCATGGACACTGTTGAGCAATGTACAGTGTATGGTGTGCTTACCTG	1	+	199096276-199096325	1q32.1b	"Homo sapiens calmodulin regulated spectrin-associated protein 1-like 1 (CAMSAP1L1), mRNA."				MGC150680; KIAA1078; RP11-93N17.1; MGC150681	MGC150680; KIAA1078; RP11-93N17.1; MGC150681
Molecular function unclassified	Carbohydrate metabolism -> Gluconeogenesis;Immunity and defense -> Macrophage-mediated immunity	Homo sapiens	RefSeq	ILMN_4828	ILMN_4828	MAEA	NM_001017405.1	NM_001017405.1		10296	62953130	NM_001017405.1	MAEA	NP_001017405.1	ILMN_1689257	2340671	I	500	TTGAGATGTTCCTGACGGCCAAAGAGGTGGAGGAGTCCCTGGAGAGGCGT	4	+	1306182-1306231	4p16.3c	"Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA."	"That fraction of cells, prepared by disruptive biochemical methods, that includes the plasma and other membranes [goid 5624] [pmid 9763581] [evidence IDA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [evidence IEA]; The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart [goid 5819] [pmid 16510120] [evidence IDA]; A cytoskeletal structure composed of actin filaments and myosin that forms beneath the plasma membrane of many cells, including animal cells and yeast cells, in a plane perpendicular to the axis of the spindle, i.e. the cell division plane. Ring contraction is associated with centripetal growth of the membrane that divides the cytoplasm of the two daughter cells. In animal cells, the contractile ring is located inside the plasma membrane at the location of the cleavage furrow. In budding fungal cells, e.g. mitotic S. cerevisiae cells, the contractile ring forms beneath the plasma membrane at the mother-bud neck before mitosis [goid 5826] [pmid 16510120] [evidence IDA]; Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles [goid 5856] [pmid 16510120] [evidence IDA]; The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins [goid 5886] [evidence IEA]; Penetrating at least one phospholipid bilayer of a plasma membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer [goid 5887] [pmid 9763581] [evidence IDA]; The dense fibrillar network lying on the inner side of the nuclear membrane [goid 16363] [pmid 16510120] [evidence IDA]"	"The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division [goid 7049] [evidence IEA]; The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules [goid 7155] [pmid 9763581] [evidence IDA]; Any process that modulates the rate or extent of progress through the mitotic cell cycle [goid 7346] [pmid 16510120] [evidence NAS]; Any process that stops, prevents, or reduces the frequency, rate, or extent of a myeloid cell apoptosis [goid 33033] [pmid 9763581] [evidence IDA]; A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state [goid 43249] [evidence IEA]; The process resulting in the physical partitioning and separation of a cell into daughter cells [goid 51301] [evidence IEA]"	"Interacting selectively with monomeric or multimeric forms of actin, including actin filaments [goid 3779] [pmid 16510120] [evidence IDA]"	EMLP; EMP; PIG5; HLC-10	EMLP; EMP; PIG5; HLC-10
Nucleic acid binding -> Ribonucleoprotein	Biological process unclassified	Homo sapiens	RefSeq	ILMN_165401	ILMN_165401	MVP	NM_017458.2	NM_017458.2		9961	19913409	NM_017458.2	MVP	NP_059447.2	ILMN_2344373	160291	A	2324	TTGAGGGAGAAGGGTCCGTGCTGCAGGCCAAGCTAAAAGCACAGGCCTTG	16	+	29765045-29765094	16p11.2d	"Homo sapiens major vault protein (MVP), transcript variant 1, mRNA."	"A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 7585126] [evidence TAS]; Any of the numerous similar discrete openings in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined [goid 5643] [evidence IEA]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 7585126] [evidence TAS]; A macromolecular complex containing both protein and RNA molecules [goid 30529] [evidence IEA]"	"The directed movement of proteins into, out of, within or between cells [goid 15031] [evidence IEA]; A change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease [goid 42493] [pmid 7585126] [evidence TAS]; The directed movement of mRNA, messenger ribonucleic acid, into, out of, within or between cells [goid 51028] [evidence IEA]; The directed movement of proteins in a cell, from one side of a membrane to another [goid 65002] [evidence IEA]"	Interacting selectively with a specific domain of a protein [goid 19904] [evidence IEA]; Interacting selectively with calcium ions (Ca2+) [goid 5509] [evidence IEA]	LRP; VAULT1	LRP; VAULT1
Transferase -> Acyltransferase	Coenzyme and prosthetic group metabolism -> Porphyrin metabolism	Homo sapiens	RefSeq	ILMN_21275	ILMN_21275	COX10	NM_001303.2	NM_001303.2		1352	17921981	NM_001303.2	COX10	NP_001294.2	ILMN_1670901	3930053	S	2855	CTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAGAACATTGCATAGG	17	+	14052574-14052623	17p12b	"Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA."	"A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration [goid 5739] [pmid 14607829] [evidence IC ]; Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins [goid 16020] [evidence IEA]; Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane [goid 16021] [pmid 12928484] [evidence RCA]; Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope [goid 31966] [evidence IEA]"	"The division of a mitochondrion within a cell to form two or more separate mitochondrial compartments [goid 266] [evidence IEA]; The transfer of electrons from cytochrome c to oxygen that occurs during oxidative phosphorylation, mediated by the multisubunit enzyme known as complex IV [goid 6123] [pmid 12928484] [evidence IC ]; The chemical reactions and pathways resulting in the formation of heme a, a derivative of heme found in cytochrome aa3 [goid 6784] [pmid 12928484] [evidence IMP]; The aggregation, arrangement and bonding together of a set of components to form respiratory chain complex IV (also known as cytochrome c oxidase), the terminal member of the respiratory chain of the mitochondrion and some aerobic bacteria. Cytochrome c oxidases are multi-subunit enzymes containing from 13 subunits in the mammalian mitochondrial form to 3-4 subunits in the bacterial forms [goid 8535] [pmid 14607829] [evidence IMP]; The enzymatic release of energy from organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor [goid 9060] [evidence IEA]; The aggregation, arrangement and bonding together of a cytochrome complex. A cytochrome complex is a protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions [goid 17004] [evidence IEA]"	"Catalysis of the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: 4 ferrocytochrome c + O2 = 4 ferricytochrome c + 2 H2O [goid 4129] [pmid 12928484] [evidence IMP];  [goid 8495] [evidence IEA]; Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2 [goid 16740] [evidence IEA]"
Nucleic acid binding;Hydrolase -> Deacetylase	Nucleoside, nucleotide and nucleic acid metabolism -> mRNA transcription -> mRNA transcription regulation;Apoptosis -> Inhibition of apoptosis;Cell cycle -> Cell cycle control	Homo sapiens	RefSeq	ILMN_2001	ILMN_2001	HDAC8	NM_018486.1	NM_018486.1		55869	8923768	NM_018486.1	HDAC8	NP_060956.1	ILMN_1651544	4760241	S	1352	GGCACCCCAGAGTCCTCAACTGGACCTAGGGGAAGAAGGAGATATCCCAC	X	-	71466403-71466452	Xq13.1e	"Homo sapiens histone deacetylase 8 (HDAC8), mRNA."	"A protein complex that possesses histone deacetylase activity [goid 118] [pmid 12711221] [evidence TAS]; A chromosome found in the nucleus of a eukaryotic cell [goid 228] [pmid 10748112] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [pmid 12711221] [evidence TAS]; All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures [goid 5737] [pmid 12711221] [evidence TAS]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent [goid 5634] [evidence IEA]; A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleu