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: NSD1 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 ABC1 LUNG c.2821C>T p.R941C CCLE PASSENGER/OTHER Possibly Damaging 2 AN3CA ENDOMETRIUM c.3043_3044delTG p.C1015fs CCLE NP NP 3 BCP1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6560G>C p.R2187P CCLE PASSENGER/OTHER Probably Damaging 4 BT20 BREAST c.2554A>T p.I852L CCLE PASSENGER/OTHER Probably Damaging 5 BT474 BREAST c.4961C>G p.S1654C CCLE PASSENGER/OTHER Possibly Damaging 6 BT474 BREAST c.6187C>G p.L2063V CCLE PASSENGER/OTHER Benign 7 CAL29 URINARY TRACT c.5668T>C p.S1890P CCLE PASSENGER/OTHER Benign 8 CAL51 BREAST c.2944_2944delG p.G982fs CCLE NP NP 9 CAL51 BREAST c.6595C>T p.R2199C CCLE PASSENGER/OTHER Probably Damaging 10 CCK81 LARGE INTESTINE c.2428T>C p.C810R CCLE PASSENGER/OTHER Benign 11 CW2 LARGE INTESTINE c.2851G>T p.G951* CCLE NP NP 12 CW2 LARGE INTESTINE c.7280C>T p.A2427V CCLE PASSENGER/OTHER Probably Damaging 13 DMS53 LUNG c.4328A>G p.N1443S CCLE PASSENGER/OTHER Benign 14 G401 SOFT TISSUE c.3564G>C p.R1188S CCLE PASSENGER/OTHER Benign 15 GP2D LARGE INTESTINE c.4774A>G p.T1592A CCLE PASSENGER/OTHER Benign 16 HEC108 ENDOMETRIUM c.6116G>A p.R2039H CCLE PASSENGER/OTHER Probably Damaging 17 HEC151 ENDOMETRIUM c.5918G>A p.G1973D CCLE CANCER Probably Damaging 18 HEC1B ENDOMETRIUM c.4497G>T p.E1499D CCLE PASSENGER/OTHER Possibly Damaging 19 HEC1B ENDOMETRIUM c.5854C>T p.R1952W CCLE PASSENGER/OTHER Probably Damaging 20 HEC1B ENDOMETRIUM c.7607C>T p.A2536V CCLE PASSENGER/OTHER Possibly Damaging 21 HEC59 ENDOMETRIUM c.1589C>T p.P530L CCLE PASSENGER/OTHER Benign 22 HEC59 ENDOMETRIUM c.5171C>G p.S1724C CCLE PASSENGER/OTHER Probably Damaging 23 HEC59 ENDOMETRIUM c.578G>A p.C193Y CCLE PASSENGER/OTHER Probably Damaging 24 HEC59 ENDOMETRIUM c.757C>A p.L253I CCLE PASSENGER/OTHER Probably Damaging 25 HLFA LUNG c.3697C>T p.R1233W CCLE PASSENGER/OTHER Probably Damaging 26 HOS BONE c.3286C>T p.H1096Y CCLE PASSENGER/OTHER Benign 27 HRT18 LARGE INTESTINE c.7875G>T p.W2625C CCLE PASSENGER/OTHER Probably Damaging 28 HS746T STOMACH c.5238T>G p.N1746K CCLE PASSENGER/OTHER Possibly Damaging 29 HS822T BONE c.3197C>T p.A1066V CCLE PASSENGER/OTHER Benign 30 HTK HAEMATOPOIETIC AND LYMPHOID TISSUE c.3286C>T p.H1096Y CCLE PASSENGER/OTHER Benign 31 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.611A>G p.K204R CCLE PASSENGER/OTHER Benign 32 HUNS1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4849G>T p.E1617* CCLE NP NP 33 JHUEM1 ENDOMETRIUM c.4450_4450delA p.K1484fs CCLE NP NP 34 JHUEM2 ENDOMETRIUM c.7735C>G p.Q2579E CCLE PASSENGER/OTHER Benign 35 KP2 PANCREAS c.7735C>G p.Q2579E CCLE PASSENGER/OTHER Benign 36 KP3 PANCREAS c.7852G>A p.V2618I CCLE PASSENGER/OTHER Benign 37 KPL1 BREAST c.7487G>A p.G2496D CCLE PASSENGER/OTHER Possibly Damaging 38 KYSE150 OESOPHAGUS c.6588_6589GG>AA p.D2197N CCLE PASSENGER/OTHER Benign 39 LS411N LARGE INTESTINE c.4421A>C p.Q1474P CCLE PASSENGER/OTHER Benign 40 MDST8 LARGE INTESTINE c.7852G>A p.V2618I CCLE PASSENGER/OTHER Benign 41 ME1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6224C>A p.P2075Q CCLE PASSENGER/OTHER Benign 42 MUTZ5 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2015C>T p.T672I CCLE PASSENGER/OTHER Benign 43 NCIH1339 LUNG c.5692A>T p.K1898* CCLE NP NP 44 NCIH1339 LUNG c.6430G>T p.A2144S CCLE PASSENGER/OTHER Probably Damaging 45 NCIH1648 LUNG c.5818C>A p.Q1940K CCLE PASSENGER/OTHER Benign 46 NCIH1975 LUNG c.1895G>A p.R632Q CCLE PASSENGER/OTHER Possibly Damaging 47 NCIH2347 LUNG c.6542C>G p.S2181C CCLE PASSENGER/OTHER Probably Damaging 48 NCIH596 LUNG c.3010G>T p.D1004Y CCLE PASSENGER/OTHER Possibly Damaging 49 NCIH650 LUNG c.3331G>T p.D1111Y CCLE PASSENGER/OTHER Probably Damaging 50 OVK18 OVARY c.3187A>G p.T1063A CCLE PASSENGER/OTHER Benign 51 OVSAHO OVARY c.4187C>T p.T1396M CCLE PASSENGER/OTHER Probably Damaging 52 PEER HAEMATOPOIETIC AND LYMPHOID TISSUE c.6032C>T p.P2011L CCLE PASSENGER/OTHER Probably Damaging 53 PFEIFFER HAEMATOPOIETIC AND LYMPHOID TISSUE c.3564G>C p.R1188S CCLE PASSENGER/OTHER Benign 54 RCM1 LARGE INTESTINE c.7852G>A p.V2618I CCLE PASSENGER/OTHER Benign 55 RERFLCAD1 LUNG c.3196G>T p.A1066S CCLE PASSENGER/OTHER Benign 56 RKO LARGE INTESTINE c.5392_5392delT p.F1798fs CCLE NP NP 57 RKO LARGE INTESTINE c.7130A>C p.K2377T CCLE PASSENGER/OTHER Possibly Damaging 58 SCC4 UPPER AERODIGESTIVE TRACT c.2254_2254delT p.S752fs CCLE NP NP 59 SCC9 UPPER AERODIGESTIVE TRACT c.4766_splice p.G1589_splice CCLE NP NP 60 SCC9 UPPER AERODIGESTIVE TRACT c.4966G>T p.G1656C CCLE PASSENGER/OTHER Probably Damaging 61 SKUT1 SOFT TISSUE c.7523G>A p.C2508Y CCLE PASSENGER/OTHER Benign 62 SNGM ENDOMETRIUM c.434C>T p.T145I CCLE PASSENGER/OTHER Probably Damaging 63 SNGM ENDOMETRIUM c.6803C>T p.A2268V CCLE PASSENGER/OTHER Benign 64 SNU1033 LARGE INTESTINE c.5691T>G p.C1897W CCLE PASSENGER/OTHER Probably Damaging 65 SNU1040 LARGE INTESTINE c.3598C>T p.R1200W CCLE PASSENGER/OTHER Possibly Damaging 66 SNU1040 LARGE INTESTINE c.6679C>T p.P2227S CCLE PASSENGER/OTHER Benign 67 SNU1040 LARGE INTESTINE c.7337C>A p.T2446N CCLE PASSENGER/OTHER Probably Damaging 68 SNU478 BILIARY TRACT c.7852G>A p.V2618I CCLE PASSENGER/OTHER Benign 69 SNU81 LARGE INTESTINE c.5014G>T p.D1672Y CCLE PASSENGER/OTHER Probably Damaging 70 SNU899 UPPER AERODIGESTIVE TRACT c.6519_6521delCTT p.F2174del CCLE NP NP 71 SNUC4 LARGE INTESTINE c.3058A>G p.N1020D CCLE PASSENGER/OTHER Probably Damaging 72 TOLEDO HAEMATOPOIETIC AND LYMPHOID TISSUE c.7033G>T p.V2345F CCLE PASSENGER/OTHER Possibly Damaging 73 TOV21G OVARY c.3091C>T p.R1031* CCLE NP NP 74 TUHR4TKB KIDNEY c.11C>A p.T4N CCLE PASSENGER/OTHER Benign 75 U87MG CENTRAL NERVOUS SYSTEM c.3380T>G p.L1127R CCLE PASSENGER/OTHER Benign 76 YD38 UPPER AERODIGESTIVE TRACT c.7852G>A p.V2618I CCLE PASSENGER/OTHER Benign 77 016 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6085A>G p.T2029A COSMIC PASSENGER/OTHER Probably Damaging 78 016-0040-02TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.6085A>G p.T2029A COSMIC PASSENGER/OTHER Probably Damaging 79 1346 SALIVARY GLAND c.4289G>C p.G1430A COSMIC PASSENGER/OTHER Benign 80 587228 LARGE INTESTINE c.3512G>A p.R1171H COSMIC PASSENGER/OTHER Possibly Damaging 81 587228 LARGE INTESTINE c.5785G>T p.G1929W COSMIC PASSENGER/OTHER Probably Damaging 82 587278 LARGE INTESTINE c.4760G>A p.R1587H COSMIC PASSENGER/OTHER Benign 83 587278 LARGE INTESTINE c.7897C>T p.R2633W COSMIC PASSENGER/OTHER Possibly Damaging 84 587332 LARGE INTESTINE c.4707G>T p.E1569D COSMIC PASSENGER/OTHER Benign 85 587342 LARGE INTESTINE c.6199A>G p.K2067E COSMIC PASSENGER/OTHER Possibly Damaging 86 587376 LARGE INTESTINE c.1025G>A p.C342Y COSMIC PASSENGER/OTHER Probably Damaging 87 587376 LARGE INTESTINE c.3742G>A p.E1248K COSMIC PASSENGER/OTHER Benign 88 863TCS ENDOMETRIUM c.6653T>C p.I2218T COSMIC PASSENGER/OTHER Probably Damaging 89 BN33T LIVER c.7224C>T p.D2408D COSMIC NP NP 90 CLL044 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6085A>G p.T2029A COSMIC PASSENGER/OTHER Probably Damaging 91 DLBCL1055 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5356_5360delAAGAT p.K1786fs*3 COSMIC NP NP 92 DLBCL759 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2170G>A p.E724K COSMIC PASSENGER/OTHER Probably Damaging 93 DLBCL793 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2203G>A p.A735T COSMIC PASSENGER/OTHER Benign 94 ESO-077 OESOPHAGUS c.255G>A p.E85E COSMIC NP NP 95 ESO-610 OESOPHAGUS c.1446T>C p.D482D COSMIC NP NP 96 ESO-859 OESOPHAGUS c.2850A>G p.V950V COSMIC NP NP 97 ESO-913 OESOPHAGUS c.6118G>A p.V2040I COSMIC PASSENGER/OTHER Possibly Damaging 98 GC8_T STOMACH c.339C>T p.C113C COSMIC NP NP 99 H650 LUNG c.1954A>G p.I652V COSMIC PASSENGER/OTHER Benign 100 H650 LUNG c.3331G>T p.D1111Y COSMIC PASSENGER/OTHER Probably Damaging 101 HCC118T LIVER c.3920A>C p.K1307T COSMIC PASSENGER/OTHER Probably Damaging 102 HCC2998 LARGE INTESTINE c.3363A>C p.K1121N COSMIC PASSENGER/OTHER Probably Damaging 103 HCT-15 LARGE INTESTINE c.7875G>T p.W2625C COSMIC PASSENGER/OTHER Probably Damaging 104 HN_62415 UPPER AERODIGESTIVE TRACT c.6371G>A p.C2124Y COSMIC CANCER Probably Damaging 105 HN_62686 UPPER AERODIGESTIVE TRACT c.5130C>A p.C1710* COSMIC NP NP 106 HN_62739 UPPER AERODIGESTIVE TRACT c.5177C>A p.P1726H COSMIC PASSENGER/OTHER Probably Damaging 107 HN_62897 UPPER AERODIGESTIVE TRACT c.5502_5503insA p.A1837fs*10 COSMIC NP NP 108 HN_63021 UPPER AERODIGESTIVE TRACT c.3698delG p.L1234fs*1 COSMIC NP NP 109 HN_63095 UPPER AERODIGESTIVE TRACT c.5951G>A p.R1984Q COSMIC PASSENGER/OTHER Probably Damaging 110 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.1544A>T p.H515L COSMIC PASSENGER/OTHER Benign 111 ID06 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1589C>T p.P530L COSMIC PASSENGER/OTHER Benign 112 ID35 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5912A>G p.Y1971C COSMIC PASSENGER/OTHER Probably Damaging 113 In-9 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5177C>T p.P1726L COSMIC PASSENGER/OTHER Probably Damaging 114 K176 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3835A>C p.K1279Q COSMIC PASSENGER/OTHER Probably Damaging 115 LAU63 SKIN c.6794C>T p.S2265F COSMIC PASSENGER/OTHER Probably Damaging 116 LAU63 SKIN c.6795C>T p.S2265S COSMIC NP NP 117 LC_S51 LUNG c.3706G>A p.V1236I COSMIC PASSENGER/OTHER Benign 118 LUAD-D01382 LUNG c.2105C>A p.P702H COSMIC PASSENGER/OTHER Benign 119 LUAD-E00918 LUNG c.5458G>A p.V1820M COSMIC PASSENGER/OTHER Probably Damaging 120 LUAD-NYU259 LUNG c.3010G>T p.D1004Y COSMIC PASSENGER/OTHER Possibly Damaging 121 LUAD-S00488 LUNG c.2049G>A p.K683K COSMIC NP NP 122 MD-289 CENTRAL NERVOUS SYSTEM c.5910G>C p.E1970D COSMIC PASSENGER/OTHER Probably Damaging 123 ME049T NS c.1990G>A p.E664K COSMIC PASSENGER/OTHER Benign 124 MEL-JWCI-WGS-22 SKIN c.3468_3469insA p.R1159fs*11 COSMIC NP NP 125 PD2170a KIDNEY c.6879A>G p.L2293L COSMIC NP NP 126 PD4099a BREAST c.3108C>G p.A1036A COSMIC NP NP 127 PR-04-194 PROSTATE c.4978C>T p.R1660C COSMIC PASSENGER/OTHER Probably Damaging 128 S00501 LUNG c.6898G>A p.A2300T COSMIC PASSENGER/OTHER Possibly Damaging 129 SA071 BREAST c.7900G>T p.A2634S COSMIC PASSENGER/OTHER Benign 130 SR HAEMATOPOIETIC AND LYMPHOID TISSUE c.4552G>T p.G1518C COSMIC PASSENGER/OTHER Possibly Damaging 131 T155 ENDOMETRIUM c.1810C>T p.R604* COSMIC NP NP 132 TCGA-05-4249-01 LUNG c.4085G>C p.G1362A COSMIC PASSENGER/OTHER Benign 133 TCGA-05-4430-01 LUNG c.6817T>G p.C2273G COSMIC PASSENGER/OTHER Probably Damaging 134 TCGA-18-3409-01 LUNG c.2981C>T p.S994F COSMIC PASSENGER/OTHER Benign 135 TCGA-18-4721-01 LUNG c.2016A>T p.T672T COSMIC NP NP 136 TCGA-21-5782-01 LUNG c.3161G>C p.R1054T COSMIC PASSENGER/OTHER Possibly Damaging 137 TCGA-22-4595-01 LUNG c.2919G>C p.Q973H COSMIC PASSENGER/OTHER Probably Damaging 138 TCGA-24-0980-01 OVARY c.5027C>A p.A1676D COSMIC PASSENGER/OTHER Probably Damaging 139 TCGA-24-1422-01 OVARY c.7259C>G p.P2420R COSMIC PASSENGER/OTHER Probably Damaging 140 TCGA-29-1777-01 OVARY c.290T>A p.F97Y COSMIC PASSENGER/OTHER Possibly Damaging 141 TCGA-29-2432-01 OVARY c.3959G>A p.R1320Q COSMIC PASSENGER/OTHER Benign 142 TCGA-34-5231-01 LUNG c.2620G>T p.E874* COSMIC NP NP 143 TCGA-34-5927-01 LUNG c.5332C>T p.R1778* COSMIC NP NP 144 TCGA-34-5929-01 LUNG c.6022G>A p.D2008N COSMIC PASSENGER/OTHER Probably Damaging 145 TCGA-44-2666-01 LUNG c.729A>G p.E243E COSMIC NP NP 146 TCGA-44-5644-01 LUNG c.5458G>A p.V1820M COSMIC PASSENGER/OTHER Probably Damaging 147 TCGA-46-6026-01 LUNG c.4919G>C p.C1640S COSMIC PASSENGER/OTHER Probably Damaging 148 TCGA-49-6745-01 LUNG c.1457C>G p.S486C COSMIC PASSENGER/OTHER Probably Damaging 149 TCGA-50-5946-01 LUNG c.6020T>C p.I2007T COSMIC PASSENGER/OTHER Probably Damaging 150 TCGA-50-5946-02 LUNG c.6020T>C p.I2007T COSMIC PASSENGER/OTHER Probably Damaging 151 TCGA-50-6590-01 LUNG c.1641C>T p.A547A COSMIC NP NP 152 TCGA-53-7624-01 LUNG c.2989G>T p.G997C COSMIC PASSENGER/OTHER Probably Damaging 153 TCGA-55-6968-01 LUNG c.1925C>T p.S642F COSMIC PASSENGER/OTHER Probably Damaging 154 TCGA-55-7903-01 LUNG c.1618G>T p.G540W COSMIC PASSENGER/OTHER Probably Damaging 155 TCGA-55-8089-01 LUNG c.2551G>C p.D851H COSMIC PASSENGER/OTHER Possibly Damaging 156 TCGA-66-2773-01 LUNG c.1766C>G p.S589C COSMIC PASSENGER/OTHER Possibly Damaging 157 TCGA-66-2786-01 LUNG c.4411C>T p.R1471* COSMIC NP NP 158 TCGA-80-5611-01 LUNG c.2105C>A p.P702H COSMIC PASSENGER/OTHER Benign 159 TCGA-91-6848-01 LUNG c.5856G>T p.R1952R COSMIC NP NP 160 TCGA-A3-3374-01 KIDNEY c.3032G>C p.S1011T COSMIC PASSENGER/OTHER Benign 161 TCGA-A5-A0GA-01 ENDOMETRIUM c.3430G>A p.E1144K COSMIC PASSENGER/OTHER Probably Damaging 162 TCGA-A5-A0GP-01 ENDOMETRIUM c.4781T>G p.F1594C COSMIC PASSENGER/OTHER Probably Damaging 163 TCGA-A5-A0GP-01 ENDOMETRIUM c.6050G>A p.R2017Q COSMIC PASSENGER/OTHER Probably Damaging 164 TCGA-A5-A0VP-01 ENDOMETRIUM c.3817C>T p.R1273C COSMIC PASSENGER/OTHER Probably Damaging 165 TCGA-A6-3809-01 LARGE INTESTINE c.2903A>G p.K968R COSMIC PASSENGER/OTHER Benign 166 TCGA-A6-6141-01 LARGE INTESTINE c.4001C>A p.S1334Y COSMIC PASSENGER/OTHER Probably Damaging 167 TCGA-A6-6781-01 LARGE INTESTINE c.4569C>T p.P1523P COSMIC NP NP 168 TCGA-A7-A26G-01 BREAST c.1964G>A p.S655N COSMIC PASSENGER/OTHER Benign 169 TCGA-A8-A0AD-01 BREAST c.252A>G p.V84V COSMIC NP NP 170 TCGA-AA-3555-01 LARGE INTESTINE c.4412G>A p.R1471Q COSMIC PASSENGER/OTHER Probably Damaging 171 TCGA-AA-3663-01 LARGE INTESTINE c.6700A>G p.T2234A COSMIC PASSENGER/OTHER Benign 172 TCGA-AA-3713-01 LARGE INTESTINE c.6738G>T p.Q2246H COSMIC PASSENGER/OTHER Probably Damaging 173 TCGA-AA-3811-01 LARGE INTESTINE c.6999C>A p.P2333P COSMIC NP NP 174 TCGA-AA-3815-01 LARGE INTESTINE c.3055C>T p.R1019C COSMIC PASSENGER/OTHER Benign 175 TCGA-AA-3877-01 LARGE INTESTINE c.2822G>A p.R941H COSMIC PASSENGER/OTHER Possibly Damaging 176 TCGA-AA-3950-01 LARGE INTESTINE c.5254delA p.K1753fs*10 COSMIC NP NP 177 TCGA-AA-3971-01 LARGE INTESTINE c.5996_5997TC>GT p.L1999R COSMIC PASSENGER/OTHER Probably Damaging 178 TCGA-AA-3984-01 LARGE INTESTINE c.2717A>C p.K906T COSMIC PASSENGER/OTHER Probably Damaging 179 TCGA-AA-3984-01 LARGE INTESTINE c.5956C>T p.R1986C COSMIC PASSENGER/OTHER Probably Damaging 180 TCGA-AA-A00A-01 LARGE INTESTINE c.6336A>G p.E2112E COSMIC NP NP 181 TCGA-AA-A00N-01 LARGE INTESTINE c.1176C>T p.F392F COSMIC NP NP 182 TCGA-AA-A00N-01 LARGE INTESTINE c.2183T>C p.V728A COSMIC PASSENGER/OTHER Benign 183 TCGA-AA-A010-01 LARGE INTESTINE c.1019G>T p.R340M COSMIC PASSENGER/OTHER Possibly Damaging 184 TCGA-AA-A010-01 LARGE INTESTINE c.29G>T p.R10I COSMIC PASSENGER/OTHER Probably Damaging 185 TCGA-AA-A010-01 LARGE INTESTINE c.3639A>G p.I1213M COSMIC PASSENGER/OTHER Benign 186 TCGA-AA-A010-01 LARGE INTESTINE c.3810G>T p.E1270D COSMIC PASSENGER/OTHER Probably Damaging 187 TCGA-AA-A010-01 LARGE INTESTINE c.4163A>C p.E1388A COSMIC PASSENGER/OTHER Benign 188 TCGA-AG-3892-01 LARGE INTESTINE c.722G>T p.R241I COSMIC PASSENGER/OTHER Probably Damaging 189 TCGA-AG-A002-01 LARGE INTESTINE c.4187C>T p.T1396M COSMIC PASSENGER/OTHER Probably Damaging 190 TCGA-AG-A002-01 LARGE INTESTINE c.4366G>T p.D1456Y COSMIC PASSENGER/OTHER Possibly Damaging 191 TCGA-AG-A014-01 LARGE INTESTINE c.7332G>A p.Q2444Q COSMIC NP NP 192 TCGA-AH-6644-01 LARGE INTESTINE c.5432G>A p.R1811Q COSMIC PASSENGER/OTHER Probably Damaging 193 TCGA-AP-A053-01 ENDOMETRIUM c.1832G>T p.R611L COSMIC PASSENGER/OTHER Benign 194 TCGA-AP-A056-01 ENDOMETRIUM c.1176C>T p.F392F COSMIC NP NP 195 TCGA-AP-A056-01 ENDOMETRIUM c.3535G>T p.E1179* COSMIC NP NP 196 TCGA-AP-A056-01 ENDOMETRIUM c.7489C>A p.L2497M COSMIC PASSENGER/OTHER Probably Damaging 197 TCGA-AP-A056-01 ENDOMETRIUM c.812T>C p.L271S COSMIC PASSENGER/OTHER Possibly Damaging 198 TCGA-AP-A0LM-01 ENDOMETRIUM c.1634C>T p.T545M COSMIC PASSENGER/OTHER Benign 199 TCGA-AP-A0LM-01 ENDOMETRIUM c.3747G>T p.K1249N COSMIC PASSENGER/OTHER Possibly Damaging 200 TCGA-AP-A0LM-01 ENDOMETRIUM c.3965G>A p.R1322Q COSMIC PASSENGER/OTHER Benign 201 TCGA-AP-A0LM-01 ENDOMETRIUM c.7769C>T p.P2590L COSMIC PASSENGER/OTHER Benign 202 TCGA-AR-A256-01 BREAST c.12C>T p.T4T COSMIC NP NP 203 TCGA-AX-A05Z-01 ENDOMETRIUM c.5900T>G p.F1967C COSMIC PASSENGER/OTHER Probably Damaging 204 TCGA-AX-A060-01 ENDOMETRIUM c.4621C>G p.L1541V COSMIC PASSENGER/OTHER Benign 205 TCGA-AX-A0J0-01 ENDOMETRIUM c.2297C>T p.S766L COSMIC PASSENGER/OTHER Possibly Damaging 206 TCGA-AX-A0J0-01 ENDOMETRIUM c.5604A>G p.P1868P COSMIC NP NP 207 TCGA-AZ-4315-01 LARGE INTESTINE c.1319G>A p.R440Q COSMIC PASSENGER/OTHER Benign 208 TCGA-AZ-6598-01 LARGE INTESTINE c.5139C>T p.C1713C COSMIC NP NP 209 TCGA-B0-4710-01 KIDNEY c.7980G>A p.Q2660Q COSMIC NP NP 210 TCGA-B0-4712-01 KIDNEY c.1290G>A p.Q430Q COSMIC NP NP 211 TCGA-B0-5695-01 KIDNEY c.959A>G p.K320R COSMIC PASSENGER/OTHER Probably Damaging 212 TCGA-B2-4099-01 KIDNEY c.4189C>G p.P1397A COSMIC PASSENGER/OTHER Benign 213 TCGA-B4-5838-01 KIDNEY c.4871C>A p.P1624Q COSMIC PASSENGER/OTHER Probably Damaging 214 TCGA-B5-A0JR-01 ENDOMETRIUM c.4878T>G p.T1626T COSMIC NP NP 215 TCGA-B5-A0JR-01 ENDOMETRIUM c.7391G>A p.R2464H COSMIC PASSENGER/OTHER Benign 216 TCGA-B5-A0JY-01 ENDOMETRIUM c.3100T>G p.F1034V COSMIC PASSENGER/OTHER Benign 217 TCGA-B5-A0JY-01 ENDOMETRIUM c.5982T>G p.T1994T COSMIC NP NP 218 TCGA-B5-A0JZ-01 ENDOMETRIUM c.3205C>T p.Q1069* COSMIC NP NP 219 TCGA-B5-A0JZ-01 ENDOMETRIUM c.6380C>T p.A2127V COSMIC PASSENGER/OTHER Benign 220 TCGA-B5-A11E-01 ENDOMETRIUM c.1837C>A p.L613M COSMIC PASSENGER/OTHER Benign 221 TCGA-B5-A11E-01 ENDOMETRIUM c.4856G>A p.C1619Y COSMIC PASSENGER/OTHER Probably Damaging 222 TCGA-B5-A11E-01 ENDOMETRIUM c.5957G>A p.R1986H COSMIC PASSENGER/OTHER Probably Damaging 223 TCGA-B5-A11R-01 ENDOMETRIUM c.641C>T p.T214I COSMIC PASSENGER/OTHER Benign 224 TCGA-B8-5546-01 KIDNEY c.5145A>G p.E1715E COSMIC NP NP 225 TCGA-B8-5552-01 KIDNEY c.295G>A p.D99N COSMIC PASSENGER/OTHER Benign 226 TCGA-BG-A0LX-01 ENDOMETRIUM c.7908C>G p.L2636L COSMIC NP NP 227 TCGA-BG-A0M4-01 ENDOMETRIUM c.1452A>G p.E484E COSMIC NP NP 228 TCGA-BG-A18B-01 ENDOMETRIUM c.6620C>A p.P2207H COSMIC PASSENGER/OTHER Probably Damaging 229 TCGA-BH-A0HY-01 BREAST c.7443G>A p.E2481E COSMIC NP NP 230 TCGA-BH-A18V-01 BREAST c.7317G>A p.L2439L COSMIC NP NP 231 TCGA-BP-4988-01 KIDNEY c.2418A>C p.I806I COSMIC NP NP 232 TCGA-BS-A0TA-01 ENDOMETRIUM c.5423A>G p.H1808R COSMIC PASSENGER/OTHER Probably Damaging 233 TCGA-BS-A0UF-01 ENDOMETRIUM c.2007C>T p.F669F COSMIC NP NP 234 TCGA-BS-A0UF-01 ENDOMETRIUM c.3366T>G p.I1122M COSMIC PASSENGER/OTHER Benign 235 TCGA-BS-A0UJ-01 ENDOMETRIUM c.5043C>A p.I1681I COSMIC NP NP 236 TCGA-BS-A0UV-01 ENDOMETRIUM c.2802C>A p.V934V COSMIC NP NP 237 TCGA-BS-A0UV-01 ENDOMETRIUM c.4467T>C p.D1489D COSMIC NP NP 238 TCGA-BT-A20T-01 URINARY TRACT c.6850G>C p.E2284Q COSMIC PASSENGER/OTHER Benign 239 TCGA-CJ-4912-01 KIDNEY c.205T>C p.Y69H COSMIC PASSENGER/OTHER Probably Damaging 240 TCGA-CJ-6030-01 KIDNEY c.6576C>T p.F2192F COSMIC NP NP 241 TCGA-CK-4947-01 LARGE INTESTINE c.5028T>C p.A1676A COSMIC NP NP 242 TCGA-CK-4950-01 LARGE INTESTINE c.7260T>C p.P2420P COSMIC NP NP 243 TCGA-CK-5913-01 LARGE INTESTINE c.4585delA p.M1531fs*43 COSMIC NP NP 244 TCGA-CK-6747-01 LARGE INTESTINE c.6298_6300delAAG p.K2102delK COSMIC NP NP 245 TCGA-CM-5863-01 LARGE INTESTINE c.2445C>T p.C815C COSMIC NP NP 246 TCGA-CM-5863-01 LARGE INTESTINE c.7260T>C p.P2420P COSMIC NP NP 247 TCGA-CU-A0YR-01 URINARY TRACT c.605G>A p.G202D COSMIC PASSENGER/OTHER Benign 248 TCGA-D1-A103-01 ENDOMETRIUM c.1483G>A p.A495T COSMIC PASSENGER/OTHER Benign 249 TCGA-D1-A103-01 ENDOMETRIUM c.3484C>T p.R1162C COSMIC PASSENGER/OTHER Probably Damaging 250 TCGA-D1-A103-01 ENDOMETRIUM c.820A>C p.I274L COSMIC PASSENGER/OTHER Benign 251 TCGA-D1-A103-01 ENDOMETRIUM c.97G>A p.G33S COSMIC PASSENGER/OTHER Benign 252 TCGA-D1-A15X-01 ENDOMETRIUM c.5740C>T p.R1914C COSMIC PASSENGER/OTHER Probably Damaging 253 TCGA-D1-A15Z-01 ENDOMETRIUM c.4603C>T p.R1535C COSMIC CANCER Probably Damaging 254 TCGA-D1-A167-01 ENDOMETRIUM c.1001G>A p.R334H COSMIC PASSENGER/OTHER Probably Damaging 255 TCGA-D1-A174-01 ENDOMETRIUM c.1492C>T p.R498* COSMIC NP NP 256 TCGA-D1-A17M-01 ENDOMETRIUM c.5617A>G p.I1873V COSMIC PASSENGER/OTHER Possibly Damaging 257 TCGA-D1-A17Q-01 ENDOMETRIUM c.1176C>T p.F392F COSMIC NP NP 258 TCGA-D1-A17Q-01 ENDOMETRIUM c.7055G>T p.R2352I COSMIC PASSENGER/OTHER Probably Damaging 259 TCGA-D5-6929-01 LARGE INTESTINE c.7258C>T p.P2420S COSMIC PASSENGER/OTHER Probably Damaging 260 TCGA-D8-A27P-01 BREAST c.2503G>T p.G835C COSMIC PASSENGER/OTHER Probably Damaging 261 TCGA-DK-A1A7-01 URINARY TRACT c.5719A>G p.I1907V COSMIC PASSENGER/OTHER Benign 262 TCGA-DK-A1AC-01 URINARY TRACT c.460G>C p.E154Q COSMIC PASSENGER/OTHER Possibly Damaging 263 TCGA-DK-A1AC-01 URINARY TRACT c.7104C>G p.A2368A COSMIC NP NP 264 TCGA-DK-A1AE-01 URINARY TRACT c.5951G>T p.R1984L COSMIC PASSENGER/OTHER Probably Damaging 265 TCGA-DK-A3IQ-01 URINARY TRACT c.5319G>C p.E1773D COSMIC PASSENGER/OTHER Probably Damaging 266 TCGA-DM-A0XD-01 LARGE INTESTINE c.6430G>A p.A2144T COSMIC PASSENGER/OTHER Probably Damaging 267 TCGA-DM-A1D8-01 LARGE INTESTINE c.5532G>C p.R1844S COSMIC PASSENGER/OTHER Benign 268 TCGA-DM-A28C-01 LARGE INTESTINE c.2796C>G p.N932K COSMIC PASSENGER/OTHER Benign 269 TCGA-EA-A1QT-01 CERVIX c.5036C>G p.S1679* COSMIC NP NP 270 TCGA-EJ-5496-01 PROSTATE c.1471G>A p.E491K COSMIC PASSENGER/OTHER Possibly Damaging 271 TCGA-G2-A2EL-01 URINARY TRACT c.3388G>C p.E1130Q COSMIC PASSENGER/OTHER Probably Damaging 272 TCGA-G2-A2EO-01 URINARY TRACT c.2517G>A p.L839L COSMIC NP NP 273 TCGA-G4-6304-01 LARGE INTESTINE c.709delA p.N238fs*23 COSMIC NP NP 274 TCGA-G5-6235-01 LARGE INTESTINE c.7260T>C p.P2420P COSMIC NP NP 275 TCGA-G9-7521-01 PROSTATE c.6603T>A p.S2201S COSMIC NP NP 276 cSCCP1 SKIN c.7322C>T p.P2441L COSMIC PASSENGER/OTHER Probably Damaging 277 cSCCP6 SKIN c.6542C>T p.S2181F COSMIC PASSENGER/OTHER Probably Damaging 278 ccRCC-4 KIDNEY c.5369A>G p.D1790G COSMIC PASSENGER/OTHER Benign 279 ccRCC-66 KIDNEY c.111C>A p.S37S COSMIC NP NP 280 pfg001T STOMACH c.816C>T p.N272N COSMIC NP NP 281 pfg008T STOMACH c.5887delA p.K1964fs*5 COSMIC NP NP 282 pfg016T STOMACH c.1968_1969delAG p.E657fs*2 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 (+)
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 (+)
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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. Sequence alignment with CCLE mutants: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 (+)
