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: SETD1A |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 054 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1109A>G p.Y370C COSMIC PASSENGER/OTHER Possibly Damaging 2 054-0114-05TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.1109A>G p.Y370C COSMIC PASSENGER/OTHER Possibly Damaging 3 12T SKIN c.929C>T p.S310F COSMIC PASSENGER/OTHER Possibly Damaging 4 2334187 LUNG c.764A>C p.D255A COSMIC PASSENGER/OTHER Possibly Damaging 5 587228 LARGE INTESTINE c.935G>A p.R312H COSMIC PASSENGER/OTHER Probably Damaging 6 587284 LARGE INTESTINE c.2233C>T p.R745W COSMIC PASSENGER/OTHER Probably Damaging 7 587338 LARGE INTESTINE c.2665C>T p.R889W COSMIC PASSENGER/OTHER Probably Damaging 8 587342 LARGE INTESTINE c.4337C>T p.T1446M COSMIC PASSENGER/OTHER Probably Damaging 9 990300 STOMACH c.4712G>A p.R1571Q COSMIC PASSENGER/OTHER Probably Damaging 10 CLL112 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5069A>C p.D1690A COSMIC PASSENGER/OTHER Possibly Damaging 11 ESO-1163 OESOPHAGUS c.5082G>T p.P1694P COSMIC NP NP 12 ESO-139 OESOPHAGUS c.4387A>G p.T1463A COSMIC PASSENGER/OTHER Probably Damaging 13 HCC2998 LARGE INTESTINE c.3328G>A p.E1110K COSMIC PASSENGER/OTHER Probably Damaging 14 HCC2T LIVER c.4254C>G p.R1418R COSMIC NP NP 15 HN_62376 UPPER AERODIGESTIVE TRACT c.2065C>T p.R689W COSMIC PASSENGER/OTHER Probably Damaging 16 HN_62532 UPPER AERODIGESTIVE TRACT c.4915G>A p.G1639S COSMIC PASSENGER/OTHER Probably Damaging 17 HN_62814 UPPER AERODIGESTIVE TRACT c.1472G>T p.R491L COSMIC PASSENGER/OTHER Probably Damaging 18 HN_62854 UPPER AERODIGESTIVE TRACT c.1733C>T p.S578F COSMIC PASSENGER/OTHER Probably Damaging 19 IGROV-1 OVARY c.1123C>T p.R375C COSMIC PASSENGER/OTHER Probably Damaging 20 LC_C35 LUNG c.3532G>T p.A1178S COSMIC PASSENGER/OTHER Benign 21 LPJ114 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2936A>G p.E979G COSMIC PASSENGER/OTHER Benign 22 LUAD-74TBW LUNG c.2690G>A p.R897Q COSMIC PASSENGER/OTHER Probably Damaging 23 LUAD-D01278 LUNG c.3119G>C p.S1040T COSMIC PASSENGER/OTHER Benign 24 LUAD-F00257 LUNG c.2119C>T p.P707S COSMIC PASSENGER/OTHER Probably Damaging 25 LUAD-NYU739 LUNG c.1386A>T p.P462P COSMIC NP NP 26 LUAD-NYU739 LUNG c.280A>G p.K94E COSMIC PASSENGER/OTHER Probably Damaging 27 LUAD-QY22Z LUNG c.2031C>T p.P677P COSMIC NP NP 28 LUAD-S01346 LUNG c.2753C>T p.A918V COSMIC PASSENGER/OTHER Benign 29 LUAD-S01346 LUNG c.4218A>C p.P1406P COSMIC NP NP 30 LUAD-S01381 LUNG c.4347G>T p.R1449R COSMIC NP NP 31 LUAD-S01413 LUNG c.437G>C p.R146P COSMIC PASSENGER/OTHER Probably Damaging 32 LUAD-YINHD LUNG c.5082G>T p.P1694P COSMIC NP NP 33 MB_Exm599 CENTRAL NERVOUS SYSTEM c.1787C>T p.P596L COSMIC PASSENGER/OTHER Benign 34 ME018T NS c.3575C>T p.P1192L COSMIC PASSENGER/OTHER Benign 35 MOLT-4 HAEMATOPOIETIC AND LYMPHOID TISSUE c.122G>A p.R41H COSMIC PASSENGER/OTHER Probably Damaging 36 PD4203a NS c.452C>T p.T151M COSMIC PASSENGER/OTHER Probably Damaging 37 PD4937a BREAST c.1072C>T p.Q358* COSMIC NP NP 38 S01728 LUNG c.4484G>T p.R1495L COSMIC PASSENGER/OTHER Probably Damaging 39 SNB19 CENTRAL NERVOUS SYSTEM c.4651G>A p.A1551T COSMIC PASSENGER/OTHER Probably Damaging 40 TCGA-05-4250-01 LUNG c.607A>T p.K203* COSMIC NP NP 41 TCGA-05-4250-01 LUNG c.609G>T p.K203N COSMIC PASSENGER/OTHER Probably Damaging 42 TCGA-05-4418-01 LUNG c.3992C>T p.P1331L COSMIC PASSENGER/OTHER Benign 43 TCGA-09-1675-01 OVARY c.3199G>T p.E1067* COSMIC NP NP 44 TCGA-13-0791-01 OVARY c.1743C>T p.D581D COSMIC NP NP 45 TCGA-18-3409-01 LUNG c.2040C>T p.F680F COSMIC NP NP 46 TCGA-18-3411-01 LUNG c.814C>T p.P272S COSMIC CANCER Probably Damaging 47 TCGA-18-3417-01 LUNG c.2866C>T p.R956C COSMIC PASSENGER/OTHER Probably Damaging 48 TCGA-21-1071-01 LUNG c.4838G>A p.R1613H COSMIC PASSENGER/OTHER Probably Damaging 49 TCGA-22-5489-01 LUNG c.115G>A p.V39M COSMIC PASSENGER/OTHER Probably Damaging 50 TCGA-23-1119-01 OVARY c.5029G>C p.D1677H COSMIC PASSENGER/OTHER Probably Damaging 51 TCGA-24-1423-01 OVARY c.3282G>T p.V1094V COSMIC NP NP 52 TCGA-33-4583-01 LUNG c.3800G>A p.G1267E COSMIC PASSENGER/OTHER Benign 53 TCGA-34-5231-01 LUNG c.1268A>T p.Q423L COSMIC PASSENGER/OTHER Benign 54 TCGA-36-2530-01 OVARY c.3176A>G p.E1059G COSMIC PASSENGER/OTHER Possibly Damaging 55 TCGA-36-2534-01 OVARY c.3460C>G p.P1154A COSMIC PASSENGER/OTHER Probably Damaging 56 TCGA-36-2543-01 OVARY c.674C>G p.A225G COSMIC PASSENGER/OTHER Benign 57 TCGA-42-2589-01 OVARY c.4245C>G p.Y1415* COSMIC NP NP 58 TCGA-44-7670-01 LUNG c.656G>T p.R219L COSMIC PASSENGER/OTHER Probably Damaging 59 TCGA-44-7670-01 LUNG c.758G>T p.R253L COSMIC PASSENGER/OTHER Probably Damaging 60 TCGA-55-7907-01 LUNG c.3264G>C p.T1088T COSMIC NP NP 61 TCGA-55-7907-01 LUNG c.3927G>T p.T1309T COSMIC NP NP 62 TCGA-61-1907-01 OVARY c.639G>C p.T213T COSMIC NP NP 63 TCGA-64-5781-01 LUNG c.2234G>T p.R745L COSMIC PASSENGER/OTHER Benign 64 TCGA-66-2754-01 LUNG c.3883C>T p.H1295Y COSMIC PASSENGER/OTHER Probably Damaging 65 TCGA-66-2783-01 LUNG c.2741C>T p.P914L COSMIC PASSENGER/OTHER Probably Damaging 66 TCGA-78-7155-01 LUNG c.2296G>T p.G766* COSMIC NP NP 67 TCGA-78-7155-01 LUNG c.3557C>T p.P1186L COSMIC PASSENGER/OTHER Benign 68 TCGA-78-7220-01 LUNG c.3441C>T p.P1147P COSMIC NP NP 69 TCGA-85-6561-01 LUNG c.3927G>C p.T1309T COSMIC NP NP 70 TCGA-91-6848-01 LUNG c.2187G>T p.P729P COSMIC NP NP 71 TCGA-99-8025-01 LUNG c.1391C>T p.S464F COSMIC PASSENGER/OTHER Probably Damaging 72 TCGA-A2-A0CX-01 BREAST c.69C>T p.I23I COSMIC NP NP 73 TCGA-A5-A0VP-01 ENDOMETRIUM c.1056T>G p.S352S COSMIC NP NP 74 TCGA-A6-5661-01 LARGE INTESTINE c.576_577delTG p.V193fs*9 COSMIC NP NP 75 TCGA-A6-6781-01 LARGE INTESTINE c.3376delC p.S1128fs*134 COSMIC NP NP 76 TCGA-AA-3554-01 LARGE INTESTINE c.2943C>T p.D981D COSMIC NP NP 77 TCGA-AA-3662-01 LARGE INTESTINE c.2049G>T p.Q683H COSMIC PASSENGER/OTHER Probably Damaging 78 TCGA-AA-3693-01 LARGE INTESTINE c.2290G>C p.V764L COSMIC PASSENGER/OTHER Benign 79 TCGA-AA-3710-01 LARGE INTESTINE c.1961C>T p.P654L COSMIC PASSENGER/OTHER Probably Damaging 80 TCGA-AA-3710-01 LARGE INTESTINE c.3643G>A p.A1215T COSMIC PASSENGER/OTHER Probably Damaging 81 TCGA-AA-3713-01 LARGE INTESTINE c.4372G>T p.D1458Y COSMIC PASSENGER/OTHER Probably Damaging 82 TCGA-AA-3877-01 LARGE INTESTINE c.3394C>T p.R1132C COSMIC PASSENGER/OTHER Possibly Damaging 83 TCGA-AA-3966-01 LARGE INTESTINE c.967G>A p.A323T COSMIC PASSENGER/OTHER Benign 84 TCGA-AA-A00D-01 LARGE INTESTINE c.4460G>A p.R1487Q COSMIC PASSENGER/OTHER Probably Damaging 85 TCGA-AA-A00E-01 LARGE INTESTINE c.700G>A p.V234M COSMIC PASSENGER/OTHER Possibly Damaging 86 TCGA-AD-6889-01 LARGE INTESTINE c.2115delC p.G708fs*95 COSMIC NP NP 87 TCGA-AD-6889-01 LARGE INTESTINE c.3576C>A p.P1192P COSMIC NP NP 88 TCGA-AG-A002-01 LARGE INTESTINE c.3328G>A p.E1110K COSMIC PASSENGER/OTHER Probably Damaging 89 TCGA-AP-A051-01 ENDOMETRIUM c.1421A>G p.E474G COSMIC PASSENGER/OTHER Possibly Damaging 90 TCGA-AP-A051-01 ENDOMETRIUM c.1962G>A p.P654P COSMIC NP NP 91 TCGA-AP-A051-01 ENDOMETRIUM c.3761C>T p.A1254V COSMIC PASSENGER/OTHER Benign 92 TCGA-AP-A051-01 ENDOMETRIUM c.4676A>G p.K1559R COSMIC PASSENGER/OTHER Probably Damaging 93 TCGA-AP-A059-01 ENDOMETRIUM c.1992G>A p.E664E COSMIC NP NP 94 TCGA-AP-A0LM-01 ENDOMETRIUM c.919G>T p.D307Y COSMIC PASSENGER/OTHER Probably Damaging 95 TCGA-AX-A05S-01 ENDOMETRIUM c.2123G>C p.G708A COSMIC PASSENGER/OTHER Benign 96 TCGA-AX-A063-01 ENDOMETRIUM c.1925C>T p.P642L COSMIC PASSENGER/OTHER Benign 97 TCGA-AX-A2H5-01 ENDOMETRIUM c.5086C>T p.L1696L COSMIC NP NP 98 TCGA-AZ-6598-01 LARGE INTESTINE c.3449G>A p.R1150H COSMIC PASSENGER/OTHER Probably Damaging 99 TCGA-AZ-6598-01 LARGE INTESTINE c.801C>A p.S267S COSMIC NP NP 100 TCGA-B2-4099-01 KIDNEY c.3198G>A p.E1066E COSMIC NP NP 101 TCGA-B5-A11E-01 ENDOMETRIUM c.1104G>A p.A368A COSMIC NP NP 102 TCGA-B5-A11E-01 ENDOMETRIUM c.2035T>C p.S679P COSMIC PASSENGER/OTHER Probably Damaging 103 TCGA-B5-A11J-01 ENDOMETRIUM c.1610G>T p.G537V COSMIC PASSENGER/OTHER Probably Damaging 104 TCGA-B8-5164-01 KIDNEY c.3862C>A p.R1288S COSMIC PASSENGER/OTHER Benign 105 TCGA-BG-A18B-01 ENDOMETRIUM c.5026G>A p.V1676M COSMIC PASSENGER/OTHER Probably Damaging 106 TCGA-BH-A18K-01 BREAST c.1950T>A p.P650P COSMIC NP NP 107 TCGA-BP-4987-01 KIDNEY c.1605G>A p.G535G COSMIC NP NP 108 TCGA-BP-4999-01 KIDNEY c.2175C>G p.A725A COSMIC NP NP 109 TCGA-BS-A0UF-01 ENDOMETRIUM c.217G>T p.D73Y COSMIC PASSENGER/OTHER Probably Damaging 110 TCGA-BS-A0UF-01 ENDOMETRIUM c.2358G>A p.P786P COSMIC NP NP 111 TCGA-BT-A20J-01 URINARY TRACT c.4312G>C p.E1438Q COSMIC PASSENGER/OTHER Probably Damaging 112 TCGA-C8-A26W-01 BREAST c.789C>T p.F263F COSMIC NP NP 113 TCGA-CH-5764-01 PROSTATE c.4240G>A p.A1414T COSMIC PASSENGER/OTHER Benign 114 TCGA-CI-6620-01 LARGE INTESTINE c.4383C>T p.N1461N COSMIC NP NP 115 TCGA-CK-6746-01 LARGE INTESTINE c.2115delC p.G708fs*95 COSMIC NP NP 116 TCGA-CK-6746-01 LARGE INTESTINE c.2537_2539delAGG p.E848delE COSMIC NP NP 117 TCGA-CK-6746-01 LARGE INTESTINE c.4819G>A p.A1607T COSMIC PASSENGER/OTHER Probably Damaging 118 TCGA-D1-A16X-01 ENDOMETRIUM c.527G>A p.R176Q COSMIC PASSENGER/OTHER Probably Damaging 119 TCGA-D1-A177-01 ENDOMETRIUM c.2323G>A p.E775K COSMIC PASSENGER/OTHER Benign 120 TCGA-D1-A17U-01 ENDOMETRIUM c.2969G>A p.R990Q COSMIC PASSENGER/OTHER Benign 121 TCGA-D5-6540-01 LARGE INTESTINE c.3039G>A p.S1013S COSMIC NP NP 122 TCGA-D5-6927-01 LARGE INTESTINE c.3141C>G p.S1047S COSMIC NP NP 123 TCGA-D5-6930-01 LARGE INTESTINE c.1174delC p.P393fs*104 COSMIC NP NP 124 TCGA-D8-A1J9-01 BREAST c.1246G>A p.E416K COSMIC PASSENGER/OTHER Possibly Damaging 125 TCGA-DK-A3IK-01 URINARY TRACT c.4739G>T p.W1580L COSMIC PASSENGER/OTHER Probably Damaging 126 TCGA-EW-A1IY-01 BREAST c.3120_3134del15 p.S1054_S1058delSSSSS COSMIC NP NP 127 TCGA-F4-6854-01 LARGE INTESTINE c.2435G>T p.R812L COSMIC PASSENGER/OTHER Probably Damaging 128 TCGA-G4-6588-01 LARGE INTESTINE c.1926_1927insC p.E645fs*1 COSMIC NP NP 129 TCGA-G4-6588-01 LARGE INTESTINE c.3537G>A p.P1179P COSMIC NP NP 130 U251 CENTRAL NERVOUS SYSTEM c.4651G>A p.A1551T COSMIC PASSENGER/OTHER Probably Damaging 131 WA26 PROSTATE c.2456C>G p.A819G COSMIC CANCER Possibly Damaging 132 YUAKER SKIN c.196C>T p.H66Y COSMIC PASSENGER/OTHER Benign 133 YUDEXA SKIN c.5080C>T p.P1694S COSMIC PASSENGER/OTHER Probably Damaging 134 YUDUTY SKIN c.1903C>T p.P635S COSMIC PASSENGER/OTHER Possibly Damaging 135 YUFOLD SKIN c.776C>T p.S259F COSMIC PASSENGER/OTHER Probably Damaging 136 YUSUBA SKIN c.1046C>T p.S349L COSMIC PASSENGER/OTHER Possibly Damaging 137 cSCCP1 SKIN c.5072A>G p.N1691S COSMIC PASSENGER/OTHER Benign 138 cSCCP2 SKIN c.1160C>T p.A387V COSMIC PASSENGER/OTHER Benign 139 cSCCP8 SKIN c.634G>T p.E212* 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. 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 (+)
