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: SETDB2 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 Br27P CENTRAL NERVOUS SYSTEM c.956C>T p.P319L COSMIC PASSENGER/OTHER Possibly Damaging 2 HN_62921 UPPER AERODIGESTIVE TRACT c.414G>A p.S138S COSMIC NP NP 3 K48 KIDNEY c.365T>A p.L122H COSMIC PASSENGER/OTHER Possibly Damaging 4 KM12 LARGE INTESTINE c.1621A>G p.S541G COSMIC PASSENGER/OTHER Probably Damaging 5 LC_S18 LUNG c.182delT p.I61fs*8 COSMIC NP NP 6 LUAD-NYU330 LUNG c.1636G>A p.D546N COSMIC PASSENGER/OTHER Benign 7 LUAD-S00488 LUNG c.557C>T p.A186V COSMIC PASSENGER/OTHER Probably Damaging 8 PACA2440 PANCREAS c.1930G>A p.G644R COSMIC PASSENGER/OTHER Probably Damaging 9 RK126_C01 LIVER c.99G>C p.Q33H COSMIC PASSENGER/OTHER Benign 10 RK209_C01 LIVER c.1397A>G p.N466S COSMIC PASSENGER/OTHER Benign 11 SA054 BREAST c.994_995delAA p.R333fs*11 COSMIC NP NP 12 TCGA-05-4405-01 LUNG c.222A>C p.K74N COSMIC PASSENGER/OTHER Benign 13 TCGA-23-1026-01 OVARY c.1172C>A p.T391K COSMIC PASSENGER/OTHER Probably Damaging 14 TCGA-50-6593-01 LUNG c.268G>C p.E90Q COSMIC PASSENGER/OTHER Possibly Damaging 15 TCGA-55-7281-01 LUNG c.28A>G p.T10A COSMIC PASSENGER/OTHER Benign 16 TCGA-86-6851-01 LUNG c.1663G>C p.E555Q COSMIC PASSENGER/OTHER Benign 17 TCGA-95-7043-01 LUNG c.1959T>A p.S653R COSMIC PASSENGER/OTHER Probably Damaging 18 TCGA-AA-A00A-01 LARGE INTESTINE c.158T>C p.M53T COSMIC PASSENGER/OTHER Probably Damaging 19 TCGA-AG-A002-01 LARGE INTESTINE c.508A>C p.K170Q COSMIC PASSENGER/OTHER Possibly Damaging 20 TCGA-AG-A02N-01 LARGE INTESTINE c.1075C>T p.R359* COSMIC NP NP 21 TCGA-AP-A056-01 ENDOMETRIUM c.1268A>C p.K423T COSMIC PASSENGER/OTHER Benign 22 TCGA-AP-A0LM-01 ENDOMETRIUM c.1634T>C p.V545A COSMIC PASSENGER/OTHER Benign 23 TCGA-AP-A0LM-01 ENDOMETRIUM c.603C>T p.N201N COSMIC NP NP 24 TCGA-AU-6004-01 LARGE INTESTINE c.1245C>T p.N415N COSMIC NP NP 25 TCGA-AX-A05Z-01 ENDOMETRIUM c.666T>A p.F222L COSMIC PASSENGER/OTHER Probably Damaging 26 TCGA-B5-A0JY-01 ENDOMETRIUM c.1877C>A p.S626Y COSMIC PASSENGER/OTHER Probably Damaging 27 TCGA-B5-A0K9-01 ENDOMETRIUM c.546T>C p.S182S COSMIC NP NP 28 TCGA-B5-A11E-01 ENDOMETRIUM c.284C>T p.S95F COSMIC PASSENGER/OTHER Probably Damaging 29 TCGA-B5-A11E-01 ENDOMETRIUM c.644A>C p.N215T COSMIC PASSENGER/OTHER Probably Damaging 30 TCGA-B5-A11E-01 ENDOMETRIUM c.677C>A p.T226N COSMIC PASSENGER/OTHER Probably Damaging 31 TCGA-B5-A11N-01 ENDOMETRIUM c.1185T>G p.I395M COSMIC PASSENGER/OTHER Probably Damaging 32 TCGA-BG-A0M9-01 ENDOMETRIUM c.1126C>A p.Q376K COSMIC PASSENGER/OTHER Benign 33 TCGA-BS-A0UF-01 ENDOMETRIUM c.433C>A p.H145N COSMIC PASSENGER/OTHER Probably Damaging 34 TCGA-BS-A0UV-01 ENDOMETRIUM c.715G>T p.E239* COSMIC NP NP 35 TCGA-CA-6717-01 LARGE INTESTINE c.665T>G p.F222C COSMIC PASSENGER/OTHER Probably Damaging 36 TCGA-CM-6161-01 LARGE INTESTINE c.1173A>G p.T391T COSMIC NP NP 37 TCGA-CM-6171-01 LARGE INTESTINE c.955C>T p.P319S COSMIC PASSENGER/OTHER Benign 38 TCGA-D1-A15X-01 ENDOMETRIUM c.1704T>A p.T568T COSMIC NP NP 39 TCGA-D1-A17Q-01 ENDOMETRIUM c.1196G>A p.R399K COSMIC PASSENGER/OTHER Probably Damaging 40 TCGA-D1-A17Q-01 ENDOMETRIUM c.414G>A p.S138S COSMIC NP NP 41 TCGA-D1-A17Q-01 ENDOMETRIUM c.715G>T p.E239* COSMIC NP NP 42 TCGA-D1-A17U-01 ENDOMETRIUM c.833G>A p.R278Q COSMIC CANCER Probably Damaging 43 TCGA-DS-A0VN-01 CERVIX c.52G>A p.D18N COSMIC PASSENGER/OTHER Benign 44 TCGA-EO-A1Y8-01 ENDOMETRIUM c.695G>A p.R232Q COSMIC PASSENGER/OTHER Probably Damaging 45 TCGA-EW-A1IZ-01 BREAST c.676A>G p.T226A COSMIC PASSENGER/OTHER Probably Damaging 46 TCGA-F4-6856-01 LARGE INTESTINE c.1510delA p.M506fs*24 COSMIC NP NP 47 YUKADI SKIN c.2017C>T p.P673S 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.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. Sequence alignment with 1000 genome variations: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 (+)
