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: EZH1 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 8015299 PANCREAS c.2122C>T p.R708W COSMIC PASSENGER/OTHER Probably Damaging 2 ESO-732 OESOPHAGUS c.1546A>G p.T516A COSMIC PASSENGER/OTHER Benign 3 H1155 LUNG c.859C>T p.R287W COSMIC PASSENGER/OTHER Probably Damaging 4 HCC137T LIVER c.389G>A p.C130Y COSMIC PASSENGER/OTHER Benign 5 HCC137T LIVER c.390C>T p.C130C COSMIC NP NP 6 LUAD-CHTN-MAD06-00668 LUNG c.1283C>T p.P428L COSMIC PASSENGER/OTHER Benign 7 LUAD-F00018 LUNG c.2116G>C p.D706H COSMIC PASSENGER/OTHER Probably Damaging 8 LUAD-YINHD LUNG c.2057G>A p.R686Q COSMIC PASSENGER/OTHER Probably Damaging 9 MN-249 MENINGES c.366G>A p.M122I COSMIC PASSENGER/OTHER Probably Damaging 10 MOLT-4 HAEMATOPOIETIC AND LYMPHOID TISSUE c.599G>A p.G200E COSMIC PASSENGER/OTHER Benign 11 PD4110a BREAST c.1123G>A p.A375T COSMIC PASSENGER/OTHER Benign 12 T155 ENDOMETRIUM c.2056C>T p.R686* COSMIC NP NP 13 TCGA-22-4595-01 LUNG c.1434C>A p.I478I COSMIC NP NP 14 TCGA-24-1469-01 OVARY c.2161G>A p.E721K COSMIC PASSENGER/OTHER Probably Damaging 15 TCGA-25-1623-01 OVARY c.2165A>T p.E722V COSMIC PASSENGER/OTHER Probably Damaging 16 TCGA-25-2392-01 OVARY c.965A>G p.K322R COSMIC PASSENGER/OTHER Benign 17 TCGA-33-4532-01 LUNG c.97C>A p.Q33K COSMIC PASSENGER/OTHER Benign 18 TCGA-36-2530-01 OVARY c.1724A>C p.Y575S COSMIC PASSENGER/OTHER Probably Damaging 19 TCGA-37-4135-01 LUNG c.62C>A p.S21Y COSMIC PASSENGER/OTHER Probably Damaging 20 TCGA-38-4629-01 LUNG c.1919C>T p.S640F COSMIC PASSENGER/OTHER Probably Damaging 21 TCGA-38-4631-01 LUNG c.642G>C p.K214N COSMIC PASSENGER/OTHER Benign 22 TCGA-55-7281-01 LUNG c.1693A>G p.T565A COSMIC PASSENGER/OTHER Benign 23 TCGA-66-2765-01 LUNG c.1637A>T p.K546M COSMIC PASSENGER/OTHER Probably Damaging 24 TCGA-66-2768-01 LUNG c.1785G>A p.W595* COSMIC NP NP 25 TCGA-73-7499-01 LUNG c.2074G>T p.V692L COSMIC PASSENGER/OTHER Benign 26 TCGA-A2-A0CW-01 BREAST c.1964G>C p.R655P COSMIC PASSENGER/OTHER Probably Damaging 27 TCGA-A5-A0VQ-01 ENDOMETRIUM c.2057G>A p.R686Q COSMIC PASSENGER/OTHER Probably Damaging 28 TCGA-A6-2678-01 LARGE INTESTINE c.1586G>A p.R529H COSMIC PASSENGER/OTHER Benign 29 TCGA-AA-3663-01 LARGE INTESTINE c.1794G>T p.K598N COSMIC PASSENGER/OTHER Possibly Damaging 30 TCGA-AA-3663-01 LARGE INTESTINE c.1875G>T p.W625C COSMIC PASSENGER/OTHER Probably Damaging 31 TCGA-AA-3715-01 LARGE INTESTINE c.2054T>A p.I685N COSMIC PASSENGER/OTHER Probably Damaging 32 TCGA-AA-A010-01 LARGE INTESTINE c.1909G>A p.E637K COSMIC PASSENGER/OTHER Probably Damaging 33 TCGA-AA-A01Q-01 LARGE INTESTINE c.807T>C p.L269L COSMIC NP NP 34 TCGA-AA-A02J-01 LARGE INTESTINE c.985G>A p.E329K COSMIC PASSENGER/OTHER Possibly Damaging 35 TCGA-AG-A002-01 LARGE INTESTINE c.1327C>T p.R443* COSMIC NP NP 36 TCGA-AP-A059-01 ENDOMETRIUM c.1964G>A p.R655H COSMIC PASSENGER/OTHER Probably Damaging 37 TCGA-AP-A0LM-01 ENDOMETRIUM c.1015C>A p.L339I COSMIC PASSENGER/OTHER Possibly Damaging 38 TCGA-AP-A0LM-01 ENDOMETRIUM c.1735C>T p.R579* COSMIC NP NP 39 TCGA-AP-A0LM-01 ENDOMETRIUM c.2211C>T p.Y737Y COSMIC NP NP 40 TCGA-AX-A05Z-01 ENDOMETRIUM c.973G>T p.E325* COSMIC NP NP 41 TCGA-AX-A0J0-01 ENDOMETRIUM c.74G>A p.R25Q COSMIC PASSENGER/OTHER Probably Damaging 42 TCGA-AX-A0J0-01 ENDOMETRIUM c.973G>T p.E325* COSMIC NP NP 43 TCGA-AX-A0J1-01 ENDOMETRIUM c.2160C>T p.G720G COSMIC NP NP 44 TCGA-B0-5084-01 KIDNEY c.1243G>T p.A415S COSMIC PASSENGER/OTHER Benign 45 TCGA-B5-A11E-01 ENDOMETRIUM c.2220C>T p.I740I COSMIC NP NP 46 TCGA-B5-A11H-01 ENDOMETRIUM c.270G>A p.P90P COSMIC NP NP 47 TCGA-B5-A11O-01 ENDOMETRIUM c.1250C>A p.P417Q COSMIC PASSENGER/OTHER Benign 48 TCGA-BS-A0UV-01 ENDOMETRIUM c.484G>T p.E162* COSMIC NP NP 49 TCGA-C4-A0F1-01 URINARY TRACT c.1003A>G p.T335A COSMIC PASSENGER/OTHER Benign 50 TCGA-CF-A1HS-01 URINARY TRACT c.484G>C p.E162Q COSMIC PASSENGER/OTHER Benign 51 TCGA-CM-4743-01 LARGE INTESTINE c.2163A>G p.E721E COSMIC NP NP 52 TCGA-CM-6169-01 LARGE INTESTINE c.2165A>G p.E722G COSMIC PASSENGER/OTHER Probably Damaging 53 TCGA-D1-A17D-01 ENDOMETRIUM c.426A>T p.E142D COSMIC PASSENGER/OTHER Benign 54 TCGA-DI-A0WH-01 ENDOMETRIUM c.1311T>C p.A437A COSMIC NP NP 55 TCGA-EJ-7115-01 PROSTATE c.1147A>G p.T383A COSMIC PASSENGER/OTHER Benign 56 TCGA-F4-6570-01 LARGE INTESTINE c.966G>T p.K322N COSMIC PASSENGER/OTHER Possibly Damaging 57 WA33 PROSTATE c.1112C>T p.S371F COSMIC PASSENGER/OTHER Probably Damaging 58 YUKLAB SKIN c.16C>T p.P6S COSMIC PASSENGER/OTHER Benign 59 cSCCP7 SKIN c.451A>T p.I151F COSMIC PASSENGER/OTHER Probably Damaging 60 pfg016T STOMACH c.1898_1899delTG p.V633fs*8 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.Gene essentiality data is not present in COLT database!! -
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 -
Structure Domains (+)
1. PFAM domains are not present!!2. Superfaimly domains are not present!! -
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:4. Sequence alignment with homologus proteins: -
Sequence Profiles (+)
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Post Translational Modifications (+)
Post translational modifications are not found!!Other Databases Link (+)
