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 (+)
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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:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 2. Sequence alignment with CCLE mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 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 1024 S Phosphorylation 2 1027 S Phosphorylation 3 1338 T Phosphorylation 4 1815 Y Phosphorylation 5 2086 K Acetylation 6 209 S Phosphorylation 7 2095 K Acetylation 8 2109 T Phosphorylation 9 217 S Phosphorylation 10 2330 S Phosphorylation 11 2369 S Phosphorylation 12 2374 S Phosphorylation 13 2378 T Phosphorylation 14 2462 T Phosphorylation 15 2471 S Phosphorylation 16 2471 S Phosphorylation 17 2573 S Phosphorylation 18 2599 S Phosphorylation 19 316 S Phosphorylation 20 483 S Phosphorylation 21 483 S Phosphorylation 22 486 S Phosphorylation 23 486 S Phosphorylation 24 758 S Phosphorylation 25 766 S Phosphorylation 26 780 S Phosphorylation 27 822 S Phosphorylation 28 865 K Ubiquitylation 29 886 K Ubiquitylation 30 936 Y Phosphorylation 31 938 S Phosphorylation 32 961 S Phosphorylation 33 962 T Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR NSD1 NSD1 NSD1 ENSP00000343209 Q96L73 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q96L73 NSD1 ENSP00000343209 NSD1 Q96L73 Expression Atlas Protein Atlas OMIM IntAct PharmGKB NSD1 ENSP00000343209 606681 Q96L73 PA31790
