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 (+)
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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 PB004663 Pfam-B_4663 1023 1134 5.6e-15 PB004663 Pfam-B_4663 1158 1223 1.2e-10 PB004663 Pfam-B_4663 1222 1407 2.2e-86 PB019358 Pfam-B_19358 1264 1347 4.4e-18 PB006310 Pfam-B_6310 1508 1557 5.8e-13 PB018878 Pfam-B_18878 1977 2032 3.8e-21 PF00856 SET 2156 2261 2.7e-25 PB018246 Pfam-B_18246 2302 2419 1.6e-69 PF00439 Bromodomain 2453 2536 9.5e-17 PF00628 PHD 2587 2630 6.3e-07 PF01426 BAH 2663 2796 6.1e-18 2. Superfamily Domains:Domain ID Start Site End Site E-value 0048183 2069 2282 2.75e-65 0046608 2444 2556 1.31e-21 0050470 2576 2640 1.28e-13 -
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 (+)
$x "); for($d=2;$d<$l777;$d++) { fwrite($FP6,$row6[$d]); fwrite($FP7,"$row6[$d] "); fwrite($FP6,"\t"); } fwrite($FP6,"\n"); fwrite($FP7,""); } fclose($FP6); echo""; } else{echo"
"; ##### table ##### $ptm_tr=file_get_contents("$dir/ptm"); if($ptm_tr != '') { echo"S. No. Position Amino acid Type Post translational modifications are not found!!";} ?> -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR ASH1L ASH1L ASH1L ENSP00000357330 Q9NR48 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q9NR48 ASH1L ENSP00000357330 ASH1L Q9NR48 Expression Atlas Protein Atlas OMIM IntAct PharmGKB ASH1L ENSP00000357330 607999 Q9NR48 PA134891064
