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: SIRT1 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 AU565 BREAST c.530C>T p.T177I CCLE PASSENGER/OTHER Probably Damaging 2 DV90 LUNG c.760_760delA p.K254fs CCLE NP NP 3 HEC108 ENDOMETRIUM c.2017A>G p.S673G CCLE PASSENGER/OTHER Probably Damaging 4 HEC251 ENDOMETRIUM c.1466T>C p.L489S CCLE PASSENGER/OTHER Probably Damaging 5 HEC59 ENDOMETRIUM c.1986A>T p.E662D CCLE PASSENGER/OTHER Benign 6 HPBALL HAEMATOPOIETIC AND LYMPHOID TISSUE c.1874C>T p.P625L CCLE PASSENGER/OTHER Possibly Damaging 7 IM95 STOMACH c.703_703delA p.K235fs CCLE NP NP 8 JHUEM7 ENDOMETRIUM c.1547G>A p.R516Q CCLE PASSENGER/OTHER Probably Damaging 9 KM12 LARGE INTESTINE c.1220T>C p.M407T CCLE PASSENGER/OTHER Probably Damaging 10 LN18 CENTRAL NERVOUS SYSTEM c.1178C>G p.P393R CCLE PASSENGER/OTHER Probably Damaging 11 NCIH146 LUNG c.1896G>T p.Q632H CCLE PASSENGER/OTHER Probably Damaging 12 NCIH1836 LUNG c.1484G>A p.G495D CCLE PASSENGER/OTHER Benign 13 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1949A>G p.Y650C CCLE PASSENGER/OTHER Benign 14 REH HAEMATOPOIETIC AND LYMPHOID TISSUE c.1946G>A p.R649H CCLE PASSENGER/OTHER Probably Damaging 15 SCC4 UPPER AERODIGESTIVE TRACT c.809T>A p.I270K CCLE PASSENGER/OTHER Probably Damaging 16 SNGM ENDOMETRIUM c.596G>A p.R199Q CCLE PASSENGER/OTHER Probably Damaging 17 SNU1079 BILIARY TRACT c.441G>T p.L147L CCLE NP NP 18 SNU1197 LARGE INTESTINE c.2134G>A p.A712T CCLE PASSENGER/OTHER Benign 19 SNU81 LARGE INTESTINE c.2174A>G p.E725G CCLE PASSENGER/OTHER Benign 20 SNU81 LARGE INTESTINE c.713A>C p.K238T CCLE PASSENGER/OTHER Benign 21 SW620 LARGE INTESTINE c.1147G>A p.V383I CCLE PASSENGER/OTHER Benign 22 T84 LARGE INTESTINE c.1135G>A p.D379N CCLE PASSENGER/OTHER Possibly Damaging 23 TF1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1439G>A p.G480E CCLE PASSENGER/OTHER Probably Damaging 24 YD15 SALIVARY GLAND c.1294G>A p.E432K CCLE PASSENGER/OTHER Benign 25 ZR7530 BREAST c.2215G>T p.D739Y CCLE PASSENGER/OTHER Possibly Damaging 26 587342 LARGE INTESTINE c.760delA p.I256fs*2 COSMIC NP NP 27 631084 LUNG c.770T>G p.I257R COSMIC PASSENGER/OTHER Probably Damaging 28 ESO-185 OESOPHAGUS c.963C>T p.F321F COSMIC NP NP 29 HCC2998 LARGE INTESTINE c.1558G>T p.E520* COSMIC NP NP 30 HCC2998 LARGE INTESTINE c.2059G>A p.E687K COSMIC PASSENGER/OTHER Probably Damaging 31 KM12 LARGE INTESTINE c.1220T>C p.M407T COSMIC PASSENGER/OTHER Probably Damaging 32 LUAD-RT-S01477 LUNG c.1646C>G p.S549C COSMIC PASSENGER/OTHER Probably Damaging 33 MB_Exm599 CENTRAL NERVOUS SYSTEM c.1945C>T p.R649C COSMIC PASSENGER/OTHER Probably Damaging 34 TCGA-30-1857-01 OVARY c.477C>T p.S159S COSMIC NP NP 35 TCGA-55-6968-01 LUNG c.1646C>T p.S549F COSMIC PASSENGER/OTHER Probably Damaging 36 TCGA-67-3771-01 LUNG c.892G>C p.D298H COSMIC PASSENGER/OTHER Probably Damaging 37 TCGA-85-6561-01 LUNG c.844C>A p.R282S COSMIC PASSENGER/OTHER Probably Damaging 38 TCGA-A6-6141-01 LARGE INTESTINE c.1021C>T p.R341C COSMIC PASSENGER/OTHER Probably Damaging 39 TCGA-AA-3672-01 LARGE INTESTINE c.1850C>T p.A617V COSMIC PASSENGER/OTHER Benign 40 TCGA-AA-3811-01 LARGE INTESTINE c.1105G>A p.A369T COSMIC PASSENGER/OTHER Probably Damaging 41 TCGA-AA-A00J-01 LARGE INTESTINE c.1282T>C p.Y428H COSMIC PASSENGER/OTHER Benign 42 TCGA-AA-A00N-01 LARGE INTESTINE c.1547G>A p.R516Q COSMIC PASSENGER/OTHER Probably Damaging 43 TCGA-AG-A002-01 LARGE INTESTINE c.444C>T p.F148F COSMIC NP NP 44 TCGA-AG-A002-01 LARGE INTESTINE c.943G>T p.E315* COSMIC NP NP 45 TCGA-AP-A0LM-01 ENDOMETRIUM c.1208C>T p.P403L COSMIC PASSENGER/OTHER Benign 46 TCGA-AP-A0LM-01 ENDOMETRIUM c.2188G>T p.A730S COSMIC PASSENGER/OTHER Benign 47 TCGA-AP-A0LM-01 ENDOMETRIUM c.845G>A p.R282H COSMIC PASSENGER/OTHER Probably Damaging 48 TCGA-AX-A05Z-01 ENDOMETRIUM c.1558G>T p.E520* COSMIC NP NP 49 TCGA-AZ-4315-01 LARGE INTESTINE c.2024G>A p.S675N COSMIC PASSENGER/OTHER Probably Damaging 50 TCGA-B0-5703-01 KIDNEY c.876T>A p.D292E COSMIC PASSENGER/OTHER Probably Damaging 51 TCGA-B0-5703-01 KIDNEY c.877C>T p.P293S COSMIC PASSENGER/OTHER Probably Damaging 52 TCGA-B5-A0JY-01 ENDOMETRIUM c.1399G>T p.E467* COSMIC NP NP 53 TCGA-B5-A11E-01 ENDOMETRIUM c.1945C>T p.R649C COSMIC PASSENGER/OTHER Probably Damaging 54 TCGA-B5-A11M-01 ENDOMETRIUM c.1423G>T p.D475Y COSMIC PASSENGER/OTHER Probably Damaging 55 TCGA-BH-A18U-01 BREAST c.1852G>A p.G618R COSMIC PASSENGER/OTHER Benign 56 TCGA-BS-A0UJ-01 ENDOMETRIUM c.1260A>G p.E420E COSMIC NP NP 57 TCGA-CK-6746-01 LARGE INTESTINE c.1236_1237insT p.G415fs*2 COSMIC NP NP 58 TCGA-D1-A15X-01 ENDOMETRIUM c.2094C>T p.F698F COSMIC NP NP 59 TCGA-E2-A1LG-01 BREAST c.2043G>C p.Q681H COSMIC PASSENGER/OTHER Benign 60 cSCCP7 SKIN c.1891G>A p.E631K COSMIC PASSENGER/OTHER Benign 61 pfg019T STOMACH c.1828delA p.N611fs*10 COSMIC NP NP
*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 (+)
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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. Sequence alignment with CCLE mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 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 (+)
S. No. Position Amino acid Type 1 14 S Phosphorylation 2 14 S Phosphorylation 3 159 S Phosphorylation 4 16 S Phosphorylation 5 16 S Phosphorylation 6 162 S Phosphorylation 7 172 S Phosphorylation 8 172 S Phosphorylation 9 173 S Phosphorylation 10 173 S Phosphorylation 11 2 A Acetylation 12 238 K Ubiquitylation 13 26 S Phosphorylation 14 26 S Phosphorylation 15 27 S Phosphorylation 16 27 S Phosphorylation 17 311 K Ubiquitylation 18 333 S Phosphorylation 19 344 T Phosphorylation 20 47 S Phosphorylation 21 47 S Phosphorylation 22 525 S Phosphorylation 23 530 T Phosphorylation 24 530 T Phosphorylation 25 535 S Phosphorylation 26 535 S Phosphorylation 27 538 S Phosphorylation 28 539 S Phosphorylation 29 540 S Phosphorylation 30 544 T Phosphorylation 31 554 T Phosphorylation 32 569 S Phosphorylation 33 601 K Ubiquitylation 34 610 K Ubiquitylation 35 659 S Phosphorylation 36 661 S Phosphorylation 37 719 T Phosphorylation 38 719 T Phosphorylation 39 734 K Sumoylation 40 747 S Phosphorylation 41 747 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR SIRT1 SIRT1 SIRT1 ENSP00000212015 Q96EB6 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q96EB6 SIRT1 ENSP00000212015 SIRT1 Q96EB6 Expression Atlas Protein Atlas OMIM IntAct PharmGKB SIRT1 ENSP00000212015 604479 Q96EB6 PA37935
