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: SMARCA5 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 587284 LARGE INTESTINE c.1279A>G p.I427V COSMIC PASSENGER/OTHER Benign 2 587316 LARGE INTESTINE c.2921G>A p.R974Q COSMIC PASSENGER/OTHER Possibly Damaging 3 587328 LARGE INTESTINE c.430C>T p.R144C COSMIC PASSENGER/OTHER Probably Damaging 4 587376 LARGE INTESTINE c.1502G>A p.R501Q COSMIC PASSENGER/OTHER Probably Damaging 5 ESO-152 OESOPHAGUS c.3057G>C p.E1019D COSMIC PASSENGER/OTHER Possibly Damaging 6 H1155 LUNG c.2258G>A p.R753H COSMIC PASSENGER/OTHER Probably Damaging 7 HCC2998 LARGE INTESTINE c.893A>C p.K298T COSMIC PASSENGER/OTHER Possibly Damaging 8 HN_63021 UPPER AERODIGESTIVE TRACT c.3128G>T p.G1043V COSMIC PASSENGER/OTHER Benign 9 LC_C7 LUNG c.1502G>A p.R501Q COSMIC PASSENGER/OTHER Probably Damaging 10 LC_C9 LUNG c.368G>T p.G123V COSMIC PASSENGER/OTHER Benign 11 LUAD-NYU284 LUNG c.1806C>G p.V602V COSMIC NP NP 12 LUAD-S01357 LUNG c.2985_2985+1insGT p.E996fs*10 COSMIC NP NP 13 LUAD_E01147 LUNG c.1666A>G p.M556V COSMIC PASSENGER/OTHER Benign 14 ME002T SKIN c.496A>G p.T166A COSMIC PASSENGER/OTHER Benign 15 MS4 LARGE INTESTINE c.263G>A p.R88Q COSMIC PASSENGER/OTHER Possibly Damaging 16 MZ7-mel SKIN c.457G>A p.E153K COSMIC PASSENGER/OTHER Possibly Damaging 17 RK159_C01 LIVER c.1506A>G p.V502V COSMIC NP NP 18 TCGA-05-4250-01 LUNG c.2907T>C p.V969V COSMIC NP NP 19 TCGA-18-3406-01 LUNG c.1276C>A p.R426R COSMIC NP NP 20 TCGA-18-4721-01 LUNG c.2736A>G p.Q912Q COSMIC NP NP 21 TCGA-44-7660-01 LUNG c.190G>C p.D64H COSMIC PASSENGER/OTHER Possibly Damaging 22 TCGA-78-7539-01 LUNG c.2494G>C p.E832Q COSMIC PASSENGER/OTHER Benign 23 TCGA-95-7039-01 LUNG c.362A>T p.K121I COSMIC PASSENGER/OTHER Possibly Damaging 24 TCGA-95-7043-01 LUNG c.2942C>T p.P981L COSMIC PASSENGER/OTHER Probably Damaging 25 TCGA-A5-A0GP-01 ENDOMETRIUM c.2677G>A p.E893K COSMIC PASSENGER/OTHER Possibly Damaging 26 TCGA-A8-A07W-01 BREAST c.1759C>A p.L587I COSMIC PASSENGER/OTHER Possibly Damaging 27 TCGA-A8-A093-01 BREAST c.2707C>T p.Q903* COSMIC NP NP 28 TCGA-AA-3554-01 LARGE INTESTINE c.1677G>A p.T559T COSMIC NP NP 29 TCGA-AA-3984-01 LARGE INTESTINE c.2164A>C p.K722Q COSMIC PASSENGER/OTHER Possibly Damaging 30 TCGA-AA-A00N-01 LARGE INTESTINE c.377G>A p.R126Q COSMIC PASSENGER/OTHER Benign 31 TCGA-AA-A010-01 LARGE INTESTINE c.3144G>T p.K1048N COSMIC PASSENGER/OTHER Benign 32 TCGA-AG-3892-01 LARGE INTESTINE c.799A>C p.R267R COSMIC NP NP 33 TCGA-AG-A002-01 LARGE INTESTINE c.1184G>A p.R395Q COSMIC CANCER Probably Damaging 34 TCGA-AG-A002-01 LARGE INTESTINE c.2543G>T p.R848I COSMIC PASSENGER/OTHER Possibly Damaging 35 TCGA-AG-A002-01 LARGE INTESTINE c.2635G>T p.E879* COSMIC NP NP 36 TCGA-AG-A002-01 LARGE INTESTINE c.500G>A p.R167Q COSMIC PASSENGER/OTHER Benign 37 TCGA-AP-A059-01 ENDOMETRIUM c.1607A>C p.D536A COSMIC CANCER Benign 38 TCGA-AP-A059-01 ENDOMETRIUM c.2467G>A p.A823T COSMIC PASSENGER/OTHER Possibly Damaging 39 TCGA-AP-A059-01 ENDOMETRIUM c.3076C>T p.R1026* COSMIC NP NP 40 TCGA-AX-A05Z-01 ENDOMETRIUM c.2131G>A p.V711I COSMIC PASSENGER/OTHER Benign 41 TCGA-AX-A05Z-01 ENDOMETRIUM c.2138A>C p.N713T COSMIC PASSENGER/OTHER Benign 42 TCGA-AX-A0J0-01 ENDOMETRIUM c.2546A>C p.D849A COSMIC PASSENGER/OTHER Probably Damaging 43 TCGA-AX-A0J0-01 ENDOMETRIUM c.3131G>A p.R1044Q COSMIC PASSENGER/OTHER Possibly Damaging 44 TCGA-AX-A0J0-01 ENDOMETRIUM c.425G>A p.R142Q COSMIC PASSENGER/OTHER Probably Damaging 45 TCGA-AZ-4315-01 LARGE INTESTINE c.1641A>C p.E547D COSMIC PASSENGER/OTHER Benign 46 TCGA-AZ-6601-01 LARGE INTESTINE c.1678C>T p.R560C COSMIC PASSENGER/OTHER Probably Damaging 47 TCGA-AZ-6601-01 LARGE INTESTINE c.2390G>T p.G797V COSMIC PASSENGER/OTHER Probably Damaging 48 TCGA-B2-3923-01 KIDNEY c.1365A>G p.K455K COSMIC NP NP 49 TCGA-B5-A0JY-01 ENDOMETRIUM c.205A>C p.K69Q COSMIC PASSENGER/OTHER Benign 50 TCGA-B5-A0JY-01 ENDOMETRIUM c.2882A>C p.K961T COSMIC PASSENGER/OTHER Benign 51 TCGA-B5-A11E-01 ENDOMETRIUM c.2871T>C p.C957C COSMIC NP NP 52 TCGA-B5-A11N-01 ENDOMETRIUM c.500G>A p.R167Q COSMIC PASSENGER/OTHER Benign 53 TCGA-BP-5010-01 KIDNEY c.2992C>A p.Q998K COSMIC PASSENGER/OTHER Benign 54 TCGA-BS-A0UF-01 ENDOMETRIUM c.2022C>T p.I674I COSMIC NP NP 55 TCGA-BS-A0UF-01 ENDOMETRIUM c.2503G>T p.E835* COSMIC NP NP 56 TCGA-BS-A0UJ-01 ENDOMETRIUM c.2953T>C p.F985L COSMIC PASSENGER/OTHER Possibly Damaging 57 TCGA-BS-A0UM-01 ENDOMETRIUM c.3041A>G p.E1014G COSMIC PASSENGER/OTHER Possibly Damaging 58 TCGA-BS-A0UV-01 ENDOMETRIUM c.949A>C p.K317Q COSMIC PASSENGER/OTHER Benign 59 TCGA-CA-6717-01 LARGE INTESTINE c.2858G>A p.R953H COSMIC PASSENGER/OTHER Probably Damaging 60 TCGA-CI-6624-01 LARGE INTESTINE c.1869G>T p.M623I COSMIC CANCER Benign 61 TCGA-CJ-4903-01 KIDNEY c.2213G>A p.R738K COSMIC PASSENGER/OTHER Possibly Damaging 62 TCGA-CM-6171-01 LARGE INTESTINE c.430C>T p.R144C COSMIC PASSENGER/OTHER Probably Damaging 63 TCGA-D1-A103-01 ENDOMETRIUM c.1756G>A p.D586N COSMIC PASSENGER/OTHER Probably Damaging 64 TCGA-D1-A15X-01 ENDOMETRIUM c.2594T>C p.I865T COSMIC PASSENGER/OTHER Benign 65 TCGA-D1-A16Y-01 ENDOMETRIUM c.425G>A p.R142Q COSMIC PASSENGER/OTHER Probably Damaging 66 TCGA-D1-A17B-01 ENDOMETRIUM c.2572G>A p.E858K COSMIC PASSENGER/OTHER Possibly Damaging 67 TCGA-D1-A17Q-01 ENDOMETRIUM c.894A>C p.K298N COSMIC PASSENGER/OTHER Benign 68 TCGA-DK-A1AB-01 URINARY TRACT c.2899G>C p.E967Q COSMIC PASSENGER/OTHER Benign 69 TCGA-DM-A28H-01 LARGE INTESTINE c.457G>A p.E153K COSMIC PASSENGER/OTHER Possibly Damaging 70 TCGA-EJ-7321-01 PROSTATE c.854C>T p.T285I COSMIC CANCER Probably Damaging 71 TCGA-F4-6704-01 LARGE INTESTINE c.458A>G p.E153G COSMIC PASSENGER/OTHER Possibly Damaging 72 TCGA-F4-6856-01 LARGE INTESTINE c.3118G>A p.A1040T COSMIC PASSENGER/OTHER Benign
*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 (+)
