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.test -
Tertiary structure (+)
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Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PF00076 RRM_1 101 165 2.7e-06 PB014013 Pfam-B_14013 818 932 3.9e-27 PB003781 Pfam-B_3781 908 1405 0.00065 PF11764 N-SET 1418 1558 1.6e-32 PF00856 SET 1580 1684 5.3e-21 2. Superfamily Domains:Domain ID Start Site End Site E-value 0048183 1564 1704 1.11e-43 0047197 68 168 6.17e-12 -
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:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 2. Mutants are not present in CCLE!!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 1103 S Phosphorylation 2 1216 S Phosphorylation 3 366 Y Phosphorylation 4 464 S Phosphorylation 5 468 S Phosphorylation 6 468 S Phosphorylation 7 470 S Phosphorylation 8 470 S Phosphorylation 9 476 T Phosphorylation 10 504 S Phosphorylation 11 508 S Phosphorylation 12 508 S Phosphorylation 13 510 T Phosphorylation 14 540 T Phosphorylation 15 562 T Phosphorylation 16 565 S Phosphorylation 17 904 S Phosphorylation 18 907 S Phosphorylation 19 915 S Phosphorylation 20 916 T Phosphorylation 21 916 T Phosphorylation 22 958 S Phosphorylation 23 963 S Phosphorylation 24 969 S Phosphorylation 25 972 S Phosphorylation 26 973 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR SETD1A SETD1A SETD1A ENSP00000262519 O15047 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt O15047 SETD1A ENSP00000262519 SETD1A O15047 Expression Atlas Protein Atlas OMIM IntAct PharmGKB SETD1A ENSP00000262519 611052 O15047 PA128394556
