dbEM
A Database of Epigenetic Modifiers
Cite: Nanda JS, Kumar R, Raghava GP. (2016) dbEM: A database of epigenetic modifiers curated from cancerous and normal genomes. Sci Rep. 6:19340.
Protein: HIF1AN |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 587222 LARGE INTESTINE c.914G>T p.R305I COSMIC PASSENGER/OTHER Benign 2 587226 LARGE INTESTINE c.284C>A p.A95D COSMIC PASSENGER/OTHER Possibly Damaging 3 ESO-859 OESOPHAGUS c.478A>C p.M160L COSMIC PASSENGER/OTHER Benign 4 HCC119T LIVER c.933A>C p.K311N COSMIC PASSENGER/OTHER Benign 5 HCC2998 LARGE INTESTINE c.384C>A p.F128L COSMIC PASSENGER/OTHER Probably Damaging 6 HCC63T LIVER c.577G>T p.G193* COSMIC NP NP 7 HX13T LIVER c.574G>T p.E192* COSMIC NP NP 8 LC_S29 LUNG c.522G>T p.Q174H COSMIC PASSENGER/OTHER Probably Damaging 9 LUAD-D01603 LUNG c.1035G>T p.K345N COSMIC PASSENGER/OTHER Benign 10 LUAD-E00443 LUNG c.385G>C p.V129L COSMIC PASSENGER/OTHER Benign 11 LUAD-RT-S01840 LUNG c.139C>G p.Q47E COSMIC PASSENGER/OTHER Benign 12 ME037T NS c.376C>T p.H126Y COSMIC PASSENGER/OTHER Benign 13 SWE-44 PROSTATE c.946G>T p.V316L COSMIC PASSENGER/OTHER Possibly Damaging 14 TCGA-78-7149-01 LUNG c.436C>A p.L146M COSMIC PASSENGER/OTHER Possibly Damaging 15 TCGA-78-7167-01 LUNG c.376C>A p.H126N COSMIC PASSENGER/OTHER Benign 16 TCGA-95-7948-01 LUNG c.625C>G p.Q209E COSMIC PASSENGER/OTHER Probably Damaging 17 TCGA-AA-A01P-01 LARGE INTESTINE c.484T>G p.F162V COSMIC PASSENGER/OTHER Probably Damaging 18 TCGA-AG-A002-01 LARGE INTESTINE c.281G>A p.S94N COSMIC PASSENGER/OTHER Benign 19 TCGA-AP-A056-01 ENDOMETRIUM c.229G>A p.D77N COSMIC PASSENGER/OTHER Probably Damaging 20 TCGA-AP-A056-01 ENDOMETRIUM c.672C>T p.F224F COSMIC NP NP 21 TCGA-AP-A056-01 ENDOMETRIUM c.916A>G p.I306V COSMIC PASSENGER/OTHER Benign 22 TCGA-AP-A059-01 ENDOMETRIUM c.441G>A p.Q147Q COSMIC NP NP 23 TCGA-AR-A1AK-01 BREAST c.121C>G p.P41A COSMIC PASSENGER/OTHER Benign 24 TCGA-AX-A0J0-01 ENDOMETRIUM c.390G>A p.E130E COSMIC NP NP 25 TCGA-AX-A0J0-01 ENDOMETRIUM c.914G>T p.R305I COSMIC PASSENGER/OTHER Benign 26 TCGA-B5-A11E-01 ENDOMETRIUM c.384C>T p.F128F COSMIC NP NP 27 TCGA-B6-A0IJ-01 BREAST c.321G>A p.K107K COSMIC NP NP 28 TCGA-BS-A0TJ-01 ENDOMETRIUM c.747C>T p.Y249Y COSMIC NP NP 29 TCGA-BS-A0UF-01 ENDOMETRIUM c.672C>T p.F224F COSMIC NP NP 30 TCGA-BS-A0UJ-01 ENDOMETRIUM c.367A>G p.M123V COSMIC PASSENGER/OTHER Benign 31 TCGA-BT-A20J-01 URINARY TRACT c.651C>G p.I217M COSMIC PASSENGER/OTHER Probably Damaging 32 TCGA-CA-6718-01 LARGE INTESTINE c.249G>T p.E83D COSMIC PASSENGER/OTHER Benign 33 TCGA-D1-A16R-01 ENDOMETRIUM c.254T>C p.I85T COSMIC PASSENGER/OTHER Possibly Damaging 34 TCGA-D1-A17Q-01 ENDOMETRIUM c.300C>A p.F100L COSMIC PASSENGER/OTHER Probably Damaging 35 TCGA-D1-A17Q-01 ENDOMETRIUM c.426G>A p.E142E COSMIC NP NP 36 TCGA-G2-A2EJ-01 URINARY TRACT c.69C>T p.L23L COSMIC NP NP 37 TCGA-G4-6588-01 LARGE INTESTINE c.926C>A p.P309H COSMIC PASSENGER/OTHER Probably Damaging 38 TCGA-H4-A2HO-01 URINARY TRACT c.399G>A p.Q133Q COSMIC NP NP 39 WA18 PROSTATE c.880A>C p.N294H COSMIC PASSENGER/OTHER Probably Damaging
*NP: Not Predicted -
Copy number variation and expression profile (+)
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Gene Essentiality Data (+)
Note: Lower the GARP score (more negative), higher the essentiality of the gene. P-value tells about the significane of GARP score.test -
Tertiary structure (+)
Users must enabled the Java in their browser to see structure.
Users can also download Java from here.Modelled Structure Structures available in PDB 1H2K, 1H2L, 1H2M, 1H2N, 1IZ3, 1MZE, 1MZF, 1YCI, 2CGN, 2CGO, 2ILM, 2W0X, 2WA3, 2WA4, 2XUM, 2Y0I, 2YC0, 2YDE, 3D8C, 3KCX, 3KCY, 3OD4, 3P3N, 3P3P, 4AI8, 4B7E, 4B7K, 4BIO, 4JAA, -
Structure Domains (+)
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Sequence Alignment (+)
Users must enabled the Java in their browser to see sequence alignments.
Users can also download Java from here.1. Variants are not present in 1000 Genomes!!2. Mutants are not present in CCLE!!3. Sequence alignment with COSMIC mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 4. Sequence alignment with homologus proteins:
Click on button to get Sequence alignment with Coverage, Consensus and Quality -
Sequence Profiles (+)
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Post Translational Modifications (+)
$x "); for($d=2;$d<$l777;$d++) { fwrite($FP6,$row6[$d]); fwrite($FP7,"$row6[$d] "); fwrite($FP6,"\t"); } fwrite($FP6,"\n"); fwrite($FP7,""); } fclose($FP6); echo""; } else{echo"
"; ##### table ##### $ptm_tr=file_get_contents("$dir/ptm"); if($ptm_tr != '') { echo"S. No. Position Amino acid Type Post translational modifications are not found!!";} ?> -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR HIF1AN HIF1AN HIF1AN ENSP00000299163 Q9NWT6 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q9NWT6 HIF1AN ENSP00000299163 HIF1AN Q9NWT6 Expression Atlas Protein Atlas OMIM IntAct PharmGKB HIF1AN ENSP00000299163 606615 Q9NWT6 PA29284
