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: ASH1L |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 12T SKIN c.4114C>T p.P1372S COSMIC CANCER Probably Damaging 2 24T SKIN c.1152C>A p.A384A COSMIC NP NP 3 24T SKIN c.8578G>A p.E2860K COSMIC NP NP 4 43T SKIN c.3557C>T p.S1186F COSMIC CANCER Probably Damaging 5 587222 LARGE INTESTINE c.3917G>A p.R1306Q COSMIC CANCER Probably Damaging 6 587224 LARGE INTESTINE c.4547G>A p.R1516H COSMIC PASSENGER/OTHER Probably Damaging 7 587224 LARGE INTESTINE c.7262G>A p.R2421Q COSMIC NP NP 8 587376 LARGE INTESTINE c.8887C>T p.R2963* COSMIC NP NP 9 8029770 PANCREAS c.1884G>T p.G628G COSMIC NP NP 10 9T SKIN c.4862C>T p.S1621F COSMIC PASSENGER/OTHER Benign 11 BN26T LIVER c.4224_4225delTT p.Y1409fs*32 COSMIC NP NP 12 Br15X CENTRAL NERVOUS SYSTEM c.3127G>C p.G1043R COSMIC CANCER Probably Damaging 13 ESO-1059 OESOPHAGUS c.969A>T p.K323N COSMIC PASSENGER/OTHER Benign 14 ESO-137 OESOPHAGUS c.6387T>C p.C2129C COSMIC NP NP 15 ESO-1481 OESOPHAGUS c.273C>A p.L91L COSMIC NP NP 16 ESO-185 OESOPHAGUS c.5948G>A p.R1983H COSMIC PASSENGER/OTHER Probably Damaging 17 ESO-720 OESOPHAGUS c.5410C>T p.Q1804* COSMIC NP NP 18 ESO-859 OESOPHAGUS c.8735G>A p.R2912Q COSMIC NP NP 19 ESO-874 OESOPHAGUS c.1589C>T p.P530L COSMIC PASSENGER/OTHER Benign 20 H2073 LUNG c.7750A>G p.I2584V COSMIC NP NP 21 H2073 LUNG c.8134G>T p.A2712S COSMIC NP NP 22 H2122 LUNG c.4171C>T p.L1391F COSMIC PASSENGER/OTHER Benign 23 H838 LUNG c.3814C>T p.R1272W COSMIC CANCER Probably Damaging 24 HCC53T LIVER c.8660A>C p.N2887T COSMIC NP NP 25 HN33PT UPPER AERODIGESTIVE TRACT c.2771C>G p.S924C COSMIC PASSENGER/OTHER Benign 26 HN_62740 UPPER AERODIGESTIVE TRACT c.4660G>T p.E1554* COSMIC NP NP 27 HX13T LIVER c.5945delC p.P1982fs*27 COSMIC NP NP 28 JJN3 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5800G>C p.E1934Q COSMIC PASSENGER/OTHER Probably Damaging 29 KM12 LARGE INTESTINE c.5465A>C p.N1822T COSMIC PASSENGER/OTHER Possibly Damaging 30 LC_S9 LUNG c.1921A>G p.I641V COSMIC PASSENGER/OTHER Benign 31 LUAD-5V8LT LUNG c.2899G>T p.D967Y COSMIC PASSENGER/OTHER Possibly Damaging 32 LUAD-B00523 LUNG c.3276A>G p.L1092L COSMIC NP NP 33 LUAD-B01145 LUNG c.3911C>T p.T1304I COSMIC CANCER Probably Damaging 34 LUAD-F00282 LUNG c.5709T>G p.S1903R COSMIC PASSENGER/OTHER Possibly Damaging 35 LUAD-LC15C LUNG c.1864A>G p.I622V COSMIC PASSENGER/OTHER Benign 36 LUAD-LIP77 LUNG c.3157C>T p.R1053C COSMIC CANCER Probably Damaging 37 LUAD-NYU263 LUNG c.8634G>T p.E2878D COSMIC NP NP 38 LUAD-NYU315 LUNG c.8748G>T p.R2916R COSMIC NP NP 39 LUAD-NYU408 LUNG c.4587G>A p.K1529K COSMIC NP NP 40 LUAD-QCHM7 LUNG c.2771C>G p.S924C COSMIC PASSENGER/OTHER Benign 41 LUAD-RT-S01699 LUNG c.8888G>A p.R2963Q COSMIC NP NP 42 LUAD-RT-S01866 LUNG c.8683_8684insA p.T2895fs*5 COSMIC NP NP 43 LUAD-VUMN6 LUNG c.8888G>A p.R2963Q COSMIC NP NP 44 LUAD-YINHD LUNG c.1240G>A p.A414T COSMIC PASSENGER/OTHER Benign 45 LUAD-YINHD LUNG c.695C>T p.S232F COSMIC PASSENGER/OTHER Probably Damaging 46 LUAD-YKER9 LUNG c.4059C>T p.P1353P COSMIC NP NP 47 LUAD_E00623 LUNG c.592G>T p.G198C COSMIC PASSENGER/OTHER Possibly Damaging 48 ME009T SKIN c.3874G>T p.E1292* COSMIC NP NP 49 ME100L SKIN c.4927C>T p.R1643W COSMIC PASSENGER/OTHER Probably Damaging 50 MZ1-PC PANCREAS c.46G>A p.E16K COSMIC PASSENGER/OTHER Possibly Damaging 51 N595T AUTONOMIC GANGLIA c.4769G>T p.G1590V COSMIC PASSENGER/OTHER Possibly Damaging 52 NB-2074 AUTONOMIC GANGLIA c.971A>G p.K324R COSMIC PASSENGER/OTHER Possibly Damaging 53 NCI-H23 LUNG c.2503G>T p.E835* COSMIC NP NP 54 PD2205a KIDNEY c.5130G>A p.G1710G COSMIC NP NP 55 PR-2682 PROSTATE c.3085T>G p.F1029V COSMIC CANCER Probably Damaging 56 RK020_C01 LIVER c.4624C>T p.H1542Y COSMIC PASSENGER/OTHER Probably Damaging 57 RK092_C01 LIVER c.988A>G p.T330A COSMIC PASSENGER/OTHER Benign 58 S00501 LUNG c.832A>T p.T278S COSMIC PASSENGER/OTHER Benign 59 S00841 LUNG c.7699G>A p.V2567I COSMIC NP NP 60 SA106 BREAST c.1968G>C p.L656F COSMIC PASSENGER/OTHER Probably Damaging 61 SA212 BREAST c.4068G>T p.M1356I COSMIC CANCER Benign 62 SWE-26 PROSTATE c.4708G>T p.G1570* COSMIC NP NP 63 TCGA-04-1357-01 OVARY c.584C>T p.T195I COSMIC PASSENGER/OTHER Possibly Damaging 64 TCGA-05-4389-01 LUNG c.3832C>T p.Q1278* COSMIC NP NP 65 TCGA-05-4415-01 LUNG c.2671G>A p.G891S COSMIC PASSENGER/OTHER Probably Damaging 66 TCGA-05-4417-01 LUNG c.7021C>G p.Q2341E COSMIC NP NP 67 TCGA-18-3406-01 LUNG c.5809G>A p.E1937K COSMIC PASSENGER/OTHER Possibly Damaging 68 TCGA-18-3406-01 LUNG c.7499A>G p.Y2500C COSMIC NP NP 69 TCGA-18-3407-01 LUNG c.7655T>C p.I2552T COSMIC NP NP 70 TCGA-18-3409-01 LUNG c.2299C>T p.P767S COSMIC PASSENGER/OTHER Benign 71 TCGA-18-3409-01 LUNG c.3123G>A p.K1041K COSMIC NP NP 72 TCGA-23-1021-01 OVARY c.6236_6238delATG p.D2079delD COSMIC NP NP 73 TCGA-23-1111-01 OVARY c.7113A>G p.Q2371Q COSMIC NP NP 74 TCGA-25-1326-01 OVARY c.3680T>C p.F1227S COSMIC CANCER Benign 75 TCGA-33-6737-01 LUNG c.5893G>C p.E1965Q COSMIC PASSENGER/OTHER Possibly Damaging 76 TCGA-34-5928-01 LUNG c.6221C>G p.S2074* COSMIC NP NP 77 TCGA-44-6778-01 LUNG c.6917G>T p.R2306L COSMIC NP NP 78 TCGA-44-7672-01 LUNG c.5380C>T p.H1794Y COSMIC PASSENGER/OTHER Probably Damaging 79 TCGA-49-4506-01 LUNG c.5377C>T p.H1793Y COSMIC PASSENGER/OTHER Benign 80 TCGA-49-6743-01 LUNG c.4527T>C p.S1509S COSMIC NP NP 81 TCGA-50-5931-01 LUNG c.677C>T p.T226I COSMIC PASSENGER/OTHER Probably Damaging 82 TCGA-50-5946-01 LUNG c.6024G>C p.L2008F COSMIC PASSENGER/OTHER Probably Damaging 83 TCGA-50-6590-01 LUNG c.3260A>T p.Q1087L COSMIC CANCER Benign 84 TCGA-50-6592-01 LUNG c.534G>A p.L178L COSMIC NP NP 85 TCGA-50-6594-01 LUNG c.2902A>T p.K968* COSMIC NP NP 86 TCGA-55-8089-01 LUNG c.7510G>A p.E2504K COSMIC NP NP 87 TCGA-60-2698-01 LUNG c.3326C>A p.S1109Y COSMIC CANCER Probably Damaging 88 TCGA-60-2720-01 LUNG c.5203G>C p.D1735H COSMIC PASSENGER/OTHER Possibly Damaging 89 TCGA-66-2734-01 LUNG c.3800G>T p.R1267M COSMIC CANCER Probably Damaging 90 TCGA-69-7765-01 LUNG c.6754A>T p.T2252S COSMIC NP NP 91 TCGA-69-7979-01 LUNG c.7166A>T p.Y2389F COSMIC NP NP 92 TCGA-75-6214-01 LUNG c.1044A>C p.P348P COSMIC NP NP 93 TCGA-78-7155-01 LUNG c.4625A>C p.H1542P COSMIC PASSENGER/OTHER Probably Damaging 94 TCGA-85-6561-01 LUNG c.3414A>G p.L1138L COSMIC NP NP 95 TCGA-91-6847-01 LUNG c.6142C>T p.P2048S COSMIC NP NP 96 TCGA-95-7948-01 LUNG c.5902T>G p.L1968V COSMIC PASSENGER/OTHER Benign 97 TCGA-97-7938-01 LUNG c.5641G>T p.E1881* COSMIC NP NP 98 TCGA-A2-A25A-01 BREAST c.5070G>C p.E1690D COSMIC PASSENGER/OTHER Possibly Damaging 99 TCGA-A3-3372-01 KIDNEY c.294A>G p.K98K COSMIC NP NP 100 TCGA-A3-3385-01 KIDNEY c.8523C>G p.R2841R COSMIC NP NP 101 TCGA-A5-A0G9-01 ENDOMETRIUM c.349A>G p.K117E COSMIC PASSENGER/OTHER Probably Damaging 102 TCGA-A5-A0GA-01 ENDOMETRIUM c.7638A>G p.S2546S COSMIC NP NP 103 TCGA-A5-A0GW-01 ENDOMETRIUM c.7567C>T p.R2523C COSMIC NP NP 104 TCGA-A5-A0VP-01 ENDOMETRIUM c.4457G>A p.R1486H COSMIC PASSENGER/OTHER Probably Damaging 105 TCGA-A5-A0VP-01 ENDOMETRIUM c.8185C>T p.R2729C COSMIC NP NP 106 TCGA-A6-5665-01 LARGE INTESTINE c.6794A>G p.Q2265R COSMIC NP NP 107 TCGA-A6-6653-01 LARGE INTESTINE c.2134delA p.R712fs*23 COSMIC NP NP 108 TCGA-A6-6653-01 LARGE INTESTINE c.8500C>T p.R2834* COSMIC NP NP 109 TCGA-A6-6781-01 LARGE INTESTINE c.2908delA p.I970fs*9 COSMIC NP NP 110 TCGA-A6-6781-01 LARGE INTESTINE c.7116delA p.K2372fs*5 COSMIC NP NP 111 TCGA-A7-A26F-01 BREAST c.3673C>T p.H1225Y COSMIC CANCER Possibly Damaging 112 TCGA-A8-A06Q-01 BREAST c.4486G>C p.E1496Q COSMIC PASSENGER/OTHER Possibly Damaging 113 TCGA-AA-3492-01 LARGE INTESTINE c.3760C>T p.R1254C COSMIC CANCER Probably Damaging 114 TCGA-AA-3510-01 LARGE INTESTINE c.123A>C p.K41N COSMIC PASSENGER/OTHER Benign 115 TCGA-AA-3542-01 LARGE INTESTINE c.5418A>T p.Q1806H COSMIC PASSENGER/OTHER Probably Damaging 116 TCGA-AA-3663-01 LARGE INTESTINE c.161G>A p.R54Q COSMIC PASSENGER/OTHER Benign 117 TCGA-AA-3713-01 LARGE INTESTINE c.2951G>A p.R984H COSMIC PASSENGER/OTHER Probably Damaging 118 TCGA-AA-3713-01 LARGE INTESTINE c.8014C>T p.R2672C COSMIC NP NP 119 TCGA-AA-3715-01 LARGE INTESTINE c.5943C>A p.P1981P COSMIC NP NP 120 TCGA-AA-3818-01 LARGE INTESTINE c.3478C>T p.R1160W COSMIC CANCER Probably Damaging 121 TCGA-AA-3852-01 LARGE INTESTINE c.7833G>T p.V2611V COSMIC NP NP 122 TCGA-AA-3864-01 LARGE INTESTINE c.2119A>G p.K707E COSMIC PASSENGER/OTHER Probably Damaging 123 TCGA-AA-3864-01 LARGE INTESTINE c.2329C>T p.R777C COSMIC PASSENGER/OTHER Benign 124 TCGA-AA-3966-01 LARGE INTESTINE c.8258C>T p.T2753I COSMIC NP NP 125 TCGA-AA-3977-01 LARGE INTESTINE c.3904C>T p.R1302W COSMIC CANCER Probably Damaging 126 TCGA-AA-3977-01 LARGE INTESTINE c.6826C>T p.R2276* COSMIC NP NP 127 TCGA-AA-3977-01 LARGE INTESTINE c.7108C>T p.R2370C COSMIC NP NP 128 TCGA-AA-3984-01 LARGE INTESTINE c.7734C>T p.D2578D COSMIC NP NP 129 TCGA-AA-3984-01 LARGE INTESTINE c.8212C>T p.R2738W COSMIC NP NP 130 TCGA-AA-3989-01 LARGE INTESTINE c.2056G>T p.A686S COSMIC PASSENGER/OTHER Possibly Damaging 131 TCGA-AA-A00J-01 LARGE INTESTINE c.246G>T p.E82D COSMIC PASSENGER/OTHER Probably Damaging 132 TCGA-AA-A00J-01 LARGE INTESTINE c.8683delA p.T2895fs*44 COSMIC NP NP 133 TCGA-AA-A010-01 LARGE INTESTINE c.1777G>A p.E593K COSMIC PASSENGER/OTHER Possibly Damaging 134 TCGA-AA-A010-01 LARGE INTESTINE c.3917G>A p.R1306Q COSMIC CANCER Probably Damaging 135 TCGA-AA-A01P-01 LARGE INTESTINE c.7567C>T p.R2523C COSMIC NP NP 136 TCGA-AA-A01R-01 LARGE INTESTINE c.8522G>A p.R2841H COSMIC NP NP 137 TCGA-AF-2693-01 LARGE INTESTINE c.5129G>A p.G1710E COSMIC PASSENGER/OTHER Benign 138 TCGA-AG-3890-01 LARGE INTESTINE c.6945C>A p.H2315Q COSMIC NP NP 139 TCGA-AG-3892-01 LARGE INTESTINE c.2598A>G p.P866P COSMIC NP NP 140 TCGA-AG-3892-01 LARGE INTESTINE c.2972C>A p.T991N COSMIC PASSENGER/OTHER Probably Damaging 141 TCGA-AG-A002-01 LARGE INTESTINE c.2951G>A p.R984H COSMIC PASSENGER/OTHER Probably Damaging 142 TCGA-AG-A002-01 LARGE INTESTINE c.6217C>T p.R2073C COSMIC NP NP 143 TCGA-AG-A002-01 LARGE INTESTINE c.6231C>T p.Y2077Y COSMIC NP NP 144 TCGA-AG-A002-01 LARGE INTESTINE c.6436C>T p.R2146* COSMIC NP NP 145 TCGA-AG-A02N-01 LARGE INTESTINE c.161G>A p.R54Q COSMIC PASSENGER/OTHER Benign 146 TCGA-AG-A02N-01 LARGE INTESTINE c.5380_5382delCAT p.H1794delH COSMIC NP NP 147 TCGA-AH-6644-01 LARGE INTESTINE c.2548C>G p.P850A COSMIC PASSENGER/OTHER Benign 148 TCGA-AK-3429-01 KIDNEY c.2461T>C p.S821P COSMIC PASSENGER/OTHER Benign 149 TCGA-AK-3436-01 KIDNEY c.3443C>T p.T1148I COSMIC PASSENGER/OTHER Probably Damaging 150 TCGA-AO-A03O-01 BREAST c.1366C>G p.L456V COSMIC PASSENGER/OTHER Benign 151 TCGA-AP-A051-01 ENDOMETRIUM c.2538T>A p.T846T COSMIC NP NP 152 TCGA-AP-A051-01 ENDOMETRIUM c.4497G>A p.Q1499Q COSMIC NP NP 153 TCGA-AP-A051-01 ENDOMETRIUM c.5293C>A p.L1765I COSMIC PASSENGER/OTHER Benign 154 TCGA-AP-A051-01 ENDOMETRIUM c.8500C>T p.R2834* COSMIC NP NP 155 TCGA-AP-A056-01 ENDOMETRIUM c.229G>T p.E77* COSMIC NP NP 156 TCGA-AP-A056-01 ENDOMETRIUM c.2985G>T p.K995N COSMIC PASSENGER/OTHER Probably Damaging 157 TCGA-AP-A056-01 ENDOMETRIUM c.4334A>C p.K1445T COSMIC PASSENGER/OTHER Probably Damaging 158 TCGA-AP-A059-01 ENDOMETRIUM c.3962G>A p.R1321Q COSMIC CANCER Probably Damaging 159 TCGA-AP-A059-01 ENDOMETRIUM c.8145C>T p.H2715H COSMIC NP NP 160 TCGA-AP-A0LM-01 ENDOMETRIUM c.2264C>A p.S755Y COSMIC PASSENGER/OTHER Possibly Damaging 161 TCGA-AP-A0LM-01 ENDOMETRIUM c.3456G>T p.K1152N COSMIC PASSENGER/OTHER Possibly Damaging 162 TCGA-AP-A0LM-01 ENDOMETRIUM c.5561G>A p.R1854Q COSMIC PASSENGER/OTHER Probably Damaging 163 TCGA-AP-A0LM-01 ENDOMETRIUM c.6792A>G p.K2264K COSMIC NP NP 164 TCGA-AP-A0LQ-01 ENDOMETRIUM c.216G>A p.Q72Q COSMIC NP NP 165 TCGA-AR-A0TS-01 BREAST c.8223C>T p.L2741L COSMIC NP NP 166 TCGA-AU-6004-01 LARGE INTESTINE c.3665delA p.K1222fs*11 COSMIC NP NP 167 TCGA-AX-A05Z-01 ENDOMETRIUM c.1477G>T p.E493* COSMIC NP NP 168 TCGA-AX-A05Z-01 ENDOMETRIUM c.2393A>C p.K798T COSMIC PASSENGER/OTHER Probably Damaging 169 TCGA-AX-A05Z-01 ENDOMETRIUM c.471C>T p.C157C COSMIC NP NP 170 TCGA-AX-A063-01 ENDOMETRIUM c.6943C>T p.H2315Y COSMIC NP NP 171 TCGA-AX-A0J1-01 ENDOMETRIUM c.2491C>T p.P831S COSMIC PASSENGER/OTHER Benign 172 TCGA-AX-A0J1-01 ENDOMETRIUM c.6045G>A p.K2015K COSMIC NP NP 173 TCGA-AX-A0J1-01 ENDOMETRIUM c.7731C>T p.D2577D COSMIC NP NP 174 TCGA-AY-5543-01 LARGE INTESTINE c.3128G>A p.G1043E COSMIC CANCER Probably Damaging 175 TCGA-AY-6197-01 LARGE INTESTINE c.585T>C p.T195T COSMIC NP NP 176 TCGA-AZ-4315-01 LARGE INTESTINE c.6217C>T p.R2073C COSMIC NP NP 177 TCGA-AZ-6598-01 LARGE INTESTINE c.74C>T p.A25V COSMIC PASSENGER/OTHER Benign 178 TCGA-B0-4710-01 KIDNEY c.7681G>T p.D2561Y COSMIC NP NP 179 TCGA-B5-A0JR-01 ENDOMETRIUM c.6479T>G p.L2160R COSMIC NP Probably Damaging 180 TCGA-B5-A0JY-01 ENDOMETRIUM c.523T>C p.S175P COSMIC PASSENGER/OTHER Benign 181 TCGA-B5-A0JY-01 ENDOMETRIUM c.6339C>A p.I2113I COSMIC NP NP 182 TCGA-B5-A0JY-01 ENDOMETRIUM c.8887C>T p.R2963* COSMIC NP NP 183 TCGA-B5-A11E-01 ENDOMETRIUM c.1607G>A p.G536D COSMIC PASSENGER/OTHER Possibly Damaging 184 TCGA-B5-A11E-01 ENDOMETRIUM c.1777G>A p.E593K COSMIC PASSENGER/OTHER Possibly Damaging 185 TCGA-B5-A11E-01 ENDOMETRIUM c.2213G>T p.R738I COSMIC PASSENGER/OTHER Probably Damaging 186 TCGA-B5-A11E-01 ENDOMETRIUM c.4568C>T p.A1523V COSMIC PASSENGER/OTHER Benign 187 TCGA-B5-A11H-01 ENDOMETRIUM c.417A>G p.K139K COSMIC NP NP 188 TCGA-B5-A11N-01 ENDOMETRIUM c.2193A>G p.P731P COSMIC NP NP 189 TCGA-B8-5549-01 KIDNEY c.5991C>T p.D1997D COSMIC NP NP 190 TCGA-BG-A0VX-01 ENDOMETRIUM c.3645G>T p.E1215D COSMIC CANCER Probably Damaging 191 TCGA-BP-4161-01 KIDNEY c.7733A>G p.D2578G COSMIC NP Possibly Damaging 192 TCGA-BP-4162-01 KIDNEY c.8633A>G p.E2878G COSMIC NP NP 193 TCGA-BP-5195-01 KIDNEY c.8119A>G p.K2707E COSMIC NP NP 194 TCGA-BS-A0UF-01 ENDOMETRIUM c.229G>T p.E77* COSMIC NP NP 195 TCGA-BS-A0UJ-01 ENDOMETRIUM c.1125A>T p.K375N COSMIC PASSENGER/OTHER Probably Damaging 196 TCGA-BS-A0UJ-01 ENDOMETRIUM c.4483T>C p.S1495P COSMIC PASSENGER/OTHER Benign 197 TCGA-BS-A0UJ-01 ENDOMETRIUM c.6410A>G p.E2137G COSMIC NP NP 198 TCGA-BS-A0UV-01 ENDOMETRIUM c.229G>T p.E77* COSMIC NP NP 199 TCGA-BS-A0UV-01 ENDOMETRIUM c.3191C>A p.S1064Y COSMIC CANCER Benign 200 TCGA-BS-A0UV-01 ENDOMETRIUM c.3962G>A p.R1321Q COSMIC CANCER Probably Damaging 201 TCGA-BS-A0UV-01 ENDOMETRIUM c.6698G>A p.G2233E COSMIC NP NP 202 TCGA-BS-A0UV-01 ENDOMETRIUM c.6706C>T p.R2236W COSMIC NP NP 203 TCGA-BS-A0UV-01 ENDOMETRIUM c.7744C>T p.R2582C COSMIC NP NP 204 TCGA-BT-A0YX-01 URINARY TRACT c.2311G>C p.D771H COSMIC PASSENGER/OTHER Benign 205 TCGA-BT-A20J-01 URINARY TRACT c.7509G>A p.V2503V COSMIC NP NP 206 TCGA-BT-A20O-01 URINARY TRACT c.2994G>C p.L998F COSMIC PASSENGER/OTHER Probably Damaging 207 TCGA-BT-A20T-01 URINARY TRACT c.190G>A p.D64N COSMIC PASSENGER/OTHER Benign 208 TCGA-BT-A3PH-01 URINARY TRACT c.6020G>A p.R2007Q COSMIC PASSENGER/OTHER Possibly Damaging 209 TCGA-C8-A12T-01 BREAST c.2264C>G p.S755C COSMIC PASSENGER/OTHER Probably Damaging 210 TCGA-C8-A27B-01 BREAST c.1833G>C p.L611F COSMIC PASSENGER/OTHER Benign 211 TCGA-CA-5255-01 LARGE INTESTINE c.46G>T p.E16* COSMIC NP NP 212 TCGA-CA-6717-01 LARGE INTESTINE c.1624A>G p.T542A COSMIC PASSENGER/OTHER Benign 213 TCGA-CA-6717-01 LARGE INTESTINE c.3038A>C p.K1013T COSMIC PASSENGER/OTHER Possibly Damaging 214 TCGA-CA-6717-01 LARGE INTESTINE c.3620A>C p.N1207T COSMIC CANCER Probably Damaging 215 TCGA-CA-6717-01 LARGE INTESTINE c.4932T>C p.L1644L COSMIC NP NP 216 TCGA-CA-6718-01 LARGE INTESTINE c.6217C>T p.R2073C COSMIC NP NP 217 TCGA-CH-5752-01 PROSTATE c.2916G>T p.K972N COSMIC PASSENGER/OTHER Benign 218 TCGA-CI-6624-01 LARGE INTESTINE c.8092C>T p.R2698C COSMIC NP NP 219 TCGA-CK-4950-01 LARGE INTESTINE c.583A>T p.T195S COSMIC PASSENGER/OTHER Benign 220 TCGA-CM-4743-01 LARGE INTESTINE c.4598delA p.K1533fs*17 COSMIC NP NP 221 TCGA-CM-5861-01 LARGE INTESTINE c.6909_6910insA p.S2304fs*11 COSMIC NP NP 222 TCGA-CM-6171-01 LARGE INTESTINE c.3665delA p.K1222fs*11 COSMIC NP NP 223 TCGA-CM-6171-01 LARGE INTESTINE c.585T>C p.T195T COSMIC NP NP 224 TCGA-CM-6674-01 LARGE INTESTINE c.4746T>C p.S1582S COSMIC NP NP 225 TCGA-CZ-5470-01 KIDNEY c.505G>T p.G169* COSMIC NP NP 226 TCGA-D1-A0ZO-01 ENDOMETRIUM c.575C>T p.T192M COSMIC PASSENGER/OTHER Possibly Damaging 227 TCGA-D1-A103-01 ENDOMETRIUM c.3645G>T p.E1215D COSMIC CANCER Probably Damaging 228 TCGA-D1-A103-01 ENDOMETRIUM c.8212C>T p.R2738W COSMIC NP NP 229 TCGA-D1-A160-01 ENDOMETRIUM c.3744_3745delTA p.H1248fs*5 COSMIC NP NP 230 TCGA-D1-A163-01 ENDOMETRIUM c.3449C>T p.A1150V COSMIC PASSENGER/OTHER Probably Damaging 231 TCGA-D1-A16F-01 ENDOMETRIUM c.6827G>A p.R2276Q COSMIC NP NP 232 TCGA-D1-A16X-01 ENDOMETRIUM c.2615T>G p.I872S COSMIC PASSENGER/OTHER Benign 233 TCGA-D1-A17M-01 ENDOMETRIUM c.4477C>T p.R1493C COSMIC PASSENGER/OTHER Benign 234 TCGA-D5-5538-01 LARGE INTESTINE c.48A>G p.E16E COSMIC NP NP 235 TCGA-D5-6532-01 LARGE INTESTINE c.3129A>G p.G1043G COSMIC NP NP 236 TCGA-D5-6536-01 LARGE INTESTINE c.5130G>T p.G1710G COSMIC NP NP 237 TCGA-D8-A13Y-01 BREAST c.1475A>C p.K492T COSMIC PASSENGER/OTHER Probably Damaging 238 TCGA-DC-6157-01 LARGE INTESTINE c.47A>G p.E16G COSMIC PASSENGER/OTHER Possibly Damaging 239 TCGA-DI-A0WH-01 ENDOMETRIUM c.6790A>G p.K2264E COSMIC NP NP 240 TCGA-DI-A0WH-01 ENDOMETRIUM c.8163C>T p.H2721H COSMIC NP NP 241 TCGA-DM-A28G-01 LARGE INTESTINE c.7602A>C p.L2534L COSMIC NP NP 242 TCGA-DS-A1OC-01 CERVIX c.1390A>G p.T464A COSMIC PASSENGER/OTHER Benign 243 TCGA-DY-A1DD-01 LARGE INTESTINE c.1468T>G p.L490V COSMIC PASSENGER/OTHER Benign 244 TCGA-E2-A108-01 BREAST c.8331C>T p.I2777I COSMIC NP NP 245 TCGA-E9-A1RH-01 BREAST c.3490_3492delCCT p.P1164delP COSMIC NP NP 246 TCGA-E9-A22G-01 BREAST c.7958G>A p.R2653Q COSMIC NP NP 247 TCGA-EJ-5495-01 PROSTATE c.4403G>T p.S1468I COSMIC PASSENGER/OTHER Benign 248 TCGA-EJ-5505-01 PROSTATE c.681T>A p.C227* COSMIC NP NP 249 TCGA-EU-5906-01 KIDNEY c.578C>A p.P193Q COSMIC PASSENGER/OTHER Benign 250 TCGA-F4-6856-01 LARGE INTESTINE c.7604G>A p.R2535Q COSMIC NP NP 251 TCGA-F5-6465-01 LARGE INTESTINE c.47A>G p.E16G COSMIC PASSENGER/OTHER Possibly Damaging 252 TCGA-FD-A3NA-01 URINARY TRACT c.3439C>T p.Q1147* COSMIC NP NP 253 TCGA-FD-A3NA-01 URINARY TRACT c.3574C>T p.H1192Y COSMIC CANCER Probably Damaging 254 TCGA-G2-A2EO-01 URINARY TRACT c.8023G>A p.D2675N COSMIC NP NP 255 TCGA-G2-A2ES-01 URINARY TRACT c.396G>A p.K132K COSMIC NP NP 256 TCGA-G4-6293-01 LARGE INTESTINE c.5129G>T p.G1710V COSMIC PASSENGER/OTHER Benign 257 TCGA-G4-6304-01 LARGE INTESTINE c.5017C>T p.R1673W COSMIC PASSENGER/OTHER Probably Damaging 258 TCGA-G4-6586-01 LARGE INTESTINE c.5465delA p.N1822fs*2 COSMIC NP NP 259 TCGA-G4-6588-01 LARGE INTESTINE c.4086A>G p.E1362E COSMIC NP NP 260 WA16 PROSTATE c.3157C>T p.R1053C COSMIC CANCER Probably Damaging 261 WA50 PROSTATE c.754_755insATTT p.I254fs*16 COSMIC NP NP 262 YUHEF SKIN c.7855C>T p.L2619F COSMIC NP NP 263 YUPROST SKIN c.2314C>T p.H772Y COSMIC PASSENGER/OTHER Possibly Damaging 264 YUWAND SKIN c.5951C>T p.P1984L COSMIC PASSENGER/OTHER Benign 265 cSCCP1 SKIN c.5806G>A p.E1936K COSMIC PASSENGER/OTHER Benign 266 cSCCP5 SKIN c.5985T>A p.Y1995* COSMIC NP NP 267 cSCCP6 SKIN c.1727C>T p.S576L COSMIC PASSENGER/OTHER Benign 268 cSCCP6 SKIN c.6367C>T p.P2123S COSMIC NP Benign 269 ccRCC-18 KIDNEY c.6547A>T p.M2183L COSMIC NP NP 270 ccRCC-24 KIDNEY c.760A>G p.I254V COSMIC PASSENGER/OTHER Benign 271 ccRCC-92 KIDNEY c.1297C>T p.Q433* COSMIC NP NP 272 pfg016T STOMACH c.3665delA p.K1222fs*11 COSMIC NP NP 273 pfg029T STOMACH c.5843C>A p.P1948Q COSMIC PASSENGER/OTHER Benign
*NP: Not Predicted -
Copy number variation and expression profile (+)
-
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 (+)
-
Post Translational Modifications (+)
Post translational modifications are not found!!Other Databases Link (+)
