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: SMARCA4 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 639V URINARY TRACT c.2337C>T p.D779D CCLE NP NP 2 639V URINARY TRACT c.3608G>A p.R1203H CCLE NP Probably Damaging 3 639V URINARY TRACT c.4429C>T p.R1477W CCLE NP NP 4 8505C THYROID c.2082C>G p.D694E CCLE NP Benign 5 A2780 OVARY c.2729C>T p.T910M CCLE NP Probably Damaging 6 A498 KIDNEY c.2767G>C p.A923P CCLE NP Probably Damaging 7 A549 LUNG c.2184_2206delGCAGTCCTACTATGCCGTGGCCC p.L728fs CCLE NP NP 8 ACCMESO1 PLEURA c.3575G>A p.R1192H CCLE NP Probably Damaging 9 AN3CA ENDOMETRIUM c.4463C>T p.P1488L CCLE NP Possibly Damaging 10 CAL12T LUNG c.3695G>A p.G1232D CCLE NP Possibly Damaging 11 CAL148 BREAST c.2451C>G p.N817K CCLE NP Probably Damaging 12 CAL54 KIDNEY c.3694G>A p.G1232S CCLE NP Probably Damaging 13 CMLT1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4781A>G p.Q1594R CCLE NP NP 14 COLO684 ENDOMETRIUM c.2334C>T p.A778A CCLE NP NP 15 COLO704 OVARY c.2334C>T p.A778A CCLE NP NP 16 CORL23 LUNG c.2057_2059delAGA p.K689del CCLE NP NP 17 CW2 LARGE INTESTINE c.266G>A p.R89H CCLE NP Probably Damaging 18 CW2 LARGE INTESTINE c.3695G>A p.G1232D CCLE NP Possibly Damaging 19 DMS53 LUNG c.4348G>T p.D1450Y CCLE NP NP 20 DV90 LUNG c.797C>T p.S266L CCLE NP Benign 21 EPLC272H LUNG c.802G>A p.V268M CCLE NP Possibly Damaging 22 FTC238 THYROID c.2918G>A p.R973Q CCLE NP Probably Damaging 23 GAMG CENTRAL NERVOUS SYSTEM c.4591G>T p.E1531* CCLE NP NP 24 GP2D LARGE INTESTINE c.2635A>G p.I879V CCLE NP Possibly Damaging 25 GSS STOMACH c.2738C>T p.P913L CCLE NP Probably Damaging 26 HCC1143 BREAST c.3968G>A p.R1323H CCLE NP Probably Damaging 27 HCC1195 LUNG c.2441_2447delCGCTGTC p.T814fs CCLE NP NP 28 HCC366 LUNG c.3533G>A p.W1178* CCLE NP NP 29 HCT15 LARGE INTESTINE c.2653C>T p.R885C CCLE NP Probably Damaging 30 HEC108 ENDOMETRIUM c.200C>T p.S67F CCLE NP NP 31 HEC108 ENDOMETRIUM c.2444T>C p.L815P CCLE NP Probably Damaging 32 HEC151 ENDOMETRIUM c.2729C>T p.T910M CCLE NP Probably Damaging 33 HEC1A ENDOMETRIUM c.804_805insC p.V268fs CCLE NP NP 34 HEC251 ENDOMETRIUM c.1489A>T p.I497F CCLE NP Possibly Damaging 35 HEC59 ENDOMETRIUM c.2900G>A p.R967H CCLE NP Probably Damaging 36 HEC6 ENDOMETRIUM c.2336A>G p.D779G CCLE NP Probably Damaging 37 HRT18 LARGE INTESTINE c.2653C>T p.R885C CCLE NP Probably Damaging 38 HS571T OVARY c.1915_1915delC p.L639fs CCLE NP NP 39 HS944T SKIN c.2357C>T p.T786I CCLE NP Probably Damaging 40 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.2673C>G p.C891W CCLE NP Probably Damaging 41 IGROV1 OVARY c.3630_3632delGGA p.E1212del CCLE NP NP 42 JHUEM1 ENDOMETRIUM c.3527G>A p.S1176N CCLE NP Probably Damaging 43 KNS42 CENTRAL NERVOUS SYSTEM c.853C>A p.P285T CCLE NP Probably Damaging 44 KYSE140 OESOPHAGUS c.3703G>T p.D1235Y CCLE NP Probably Damaging 45 KYSE270 OESOPHAGUS c.1481C>G p.T494R CCLE NP Possibly Damaging 46 KYSE30 OESOPHAGUS c.3524A>G p.D1175G CCLE NP Probably Damaging 47 KYSE410 OESOPHAGUS c.3619G>A p.V1207I CCLE NP Benign 48 LS513 LARGE INTESTINE c.2917C>T p.R973W CCLE NP Probably Damaging 49 MC116 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3760_3771delGAGGAGCAGGAT p.EEQD1254del CCLE NP NP 50 NALM6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1627G>A p.D543N CCLE NP Probably Damaging 51 NCIH1092 LUNG c.2351G>A p.G784E CCLE NP Probably Damaging 52 NCIH1435 LUNG c.3484G>T p.G1162C CCLE NP Probably Damaging 53 NCIH1568 LUNG c.4441G>T p.E1481* CCLE NP NP 54 NCIH1573 LUNG c.4291G>T p.E1431* CCLE NP NP 55 NCIH1650 LUNG c.3490A>T p.N1164Y CCLE NP Probably Damaging 56 NCIH1693 LUNG c.3253_3269delCTTGATAGAATTCTTCC p.L1085fs CCLE NP NP 57 NCIH1703 LUNG c.2002_splice p.E668_splice CCLE NP NP 58 NCIH1793 LUNG c.1540G>T p.E514* CCLE NP NP 59 NCIH1930 LUNG c.3476G>T p.G1159V CCLE NP Probably Damaging 60 NCIH2023 LUNG c.2477_2477delC p.A826fs CCLE NP NP 61 NCIH2126 LUNG c.2290T>A p.W764R CCLE NP Probably Damaging 62 NCIH2286 LUNG c.3404G>A p.R1135Q CCLE NP Probably Damaging 63 NCIH2342 LUNG c.2581G>A p.E861K CCLE NP Probably Damaging 64 NCIH23 LUNG c.4794_4795GG>TT p.1598_1599KE>N* CCLE NP NP 65 NCIH522 LUNG c.805_806delCC p.P269fs CCLE NP NP 66 NCIH650 LUNG c.2654G>T p.R885L CCLE NP Probably Damaging 67 NCIH650 LUNG c.3703G>T p.D1235Y CCLE NP Probably Damaging 68 NCIH661 LUNG c.3475_3475delG p.G1159fs CCLE NP NP 69 NCIH838 LUNG c.2617_splice p.I873_splice CCLE NP NP 70 NCIH841 LUNG c.2800A>T p.K934* CCLE NP NP 71 OCIM1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2777A>T p.N926I CCLE NP Probably Damaging 72 P3HR1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2642A>G p.D881G CCLE NP Probably Damaging 73 PANC0213 PANCREAS c.2729C>T p.T910M CCLE NP Probably Damaging 74 RERFGC1B STOMACH c.2745G>C p.Q915H CCLE NP Probably Damaging 75 RERFLCAI LUNG c.4582G>T p.E1528* CCLE NP NP 76 RL952 ENDOMETRIUM c.2658_2660delGAA p.K887del CCLE NP NP 77 RL952 ENDOMETRIUM c.4826A>G p.E1609G CCLE NP NP 78 SBC5 LUNG c.3729_3730delGC p.R1243fs CCLE NP NP 79 SHSY5Y AUTONOMIC GANGLIA c.2917C>T p.R973W CCLE NP Probably Damaging 80 SKHEP1 LIVER c.4840G>T p.E1614* CCLE NP NP 81 SKNSH AUTONOMIC GANGLIA c.2917C>T p.R973W CCLE NP Probably Damaging 82 SNGM ENDOMETRIUM c.4460C>A p.P1487Q CCLE NP Possibly Damaging 83 SNU1040 LARGE INTESTINE c.2198C>T p.A733V CCLE NP Benign 84 SNU1040 LARGE INTESTINE c.4640G>A p.R1547H CCLE NP NP 85 SNU175 LARGE INTESTINE c.2896C>T p.R966W CCLE NP Probably Damaging 86 SNU175 LARGE INTESTINE c.4499C>G p.A1500G CCLE NP NP 87 SNU407 LARGE INTESTINE c.1519T>C p.Y507H CCLE NP Benign 88 SNU407 LARGE INTESTINE c.3325A>G p.M1109V CCLE NP Possibly Damaging 89 SNU738 CENTRAL NERVOUS SYSTEM c.2933G>T p.R978L CCLE NP Probably Damaging 90 SNU81 LARGE INTESTINE c.1567G>A p.E523K CCLE NP Probably Damaging 91 SNUC2A LARGE INTESTINE c.3557C>T p.A1186V CCLE NP Probably Damaging 92 SW1271 LUNG c.2322C>A p.N774K CCLE NP Probably Damaging 93 SW48 LARGE INTESTINE c.2108C>T p.A703V CCLE NP Benign 94 TE617T SOFT TISSUE c.1663C>T p.Q555* CCLE NP NP 95 TT OESOPHAGUS c.4456A>C p.N1486H CCLE NP NP 96 WM88 SKIN c.2905C>T p.H969Y CCLE NP Probably Damaging 97 YD15 SALIVARY GLAND c.4801G>A p.D1601N CCLE NP NP 98 102T LARGE INTESTINE c.3230G>T p.R1077L COSMIC NP Probably Damaging 99 1060 OESOPHAGUS c.2644G>A p.E882K COSMIC NP Probably Damaging 100 1223173 LUNG c.3478G>C p.G1160R COSMIC NP Probably Damaging 101 1223174 LUNG c.3526A>T p.S1176C COSMIC NP Probably Damaging 102 12T SKIN c.2300C>T p.S767F COSMIC NP Probably Damaging 103 12T SKIN c.4113C>T p.S1371S COSMIC NP NP 104 1469875 LUNG c.1756A>T p.K586* COSMIC NP NP 105 1989344 CENTRAL NERVOUS SYSTEM c.3229C>T p.R1077* COSMIC NP NP 106 587222 LARGE INTESTINE c.3380A>G p.D1127G COSMIC NP Probably Damaging 107 587228 LARGE INTESTINE c.1141C>T p.R381* COSMIC NP NP 108 587228 LARGE INTESTINE c.3475delG p.L1161fs*3 COSMIC NP NP 109 587234 LARGE INTESTINE c.2896C>T p.R966W COSMIC NP Probably Damaging 110 587306 LARGE INTESTINE c.2729C>T p.T910M COSMIC NP Probably Damaging 111 587316 LARGE INTESTINE c.3436G>A p.G1146S COSMIC NP Benign 112 587336 LARGE INTESTINE c.3293A>G p.K1098R COSMIC NP Benign 113 587338 LARGE INTESTINE c.3967C>T p.R1323C COSMIC NP Probably Damaging 114 587342 LARGE INTESTINE c.1367T>C p.L456P COSMIC NP Probably Damaging 115 587350 LARGE INTESTINE c.1111G>A p.E371K COSMIC NP Possibly Damaging 116 587390 LARGE INTESTINE c.3500C>T p.S1167L COSMIC NP Possibly Damaging 117 631092 LUNG c.830C>A p.P277H COSMIC NP Benign 118 A498 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2767G>C p.A923P COSMIC NP Probably Damaging 119 A549 LUNG c.2184_2206del23 p.Q729fs*4 COSMIC NP NP 120 ALAB BREAST c.1630C>T p.Q544* COSMIC NP NP 121 Br27P CENTRAL NERVOUS SYSTEM c.130G>A p.G44R COSMIC NP Probably Damaging 122 CHC614T LIVER c.3531C>A p.D1177E COSMIC NP Probably Damaging 123 EKVX LUNG c.1252C>T p.Q418* COSMIC NP NP 124 ESO-0292 OESOPHAGUS c.2654G>A p.R885H COSMIC NP Probably Damaging 125 ESO-1060 OESOPHAGUS c.2300C>T p.S767F COSMIC NP Probably Damaging 126 ESO-107 OESOPHAGUS c.2450_2458delACTGGGCGT p.W818_Y820delWAY COSMIC NP NP 127 ESO-1670 OESOPHAGUS c.2729C>T p.T910M COSMIC NP Probably Damaging 128 ESO-169 OESOPHAGUS c.1352G>A p.R451H COSMIC NP Probably Damaging 129 ESO-184 OESOPHAGUS c.4243C>T p.R1415* COSMIC NP NP 130 ESO-184 OESOPHAGUS c.4471C>T p.R1491* COSMIC NP NP 131 ESO-409 OESOPHAGUS c.3575G>A p.R1192H COSMIC NP Probably Damaging 132 ESO-539 OESOPHAGUS c.2896C>T p.R966W COSMIC NP Probably Damaging 133 ESO-555 OESOPHAGUS c.2932C>T p.R978* COSMIC NP NP 134 ESO-859 OESOPHAGUS c.2695A>G p.T899A COSMIC NP Possibly Damaging 135 ESO17T OESOPHAGUS c.2933G>A p.R978Q COSMIC NP Probably Damaging 136 H650 LUNG c.3703G>T p.D1235Y COSMIC NP Probably Damaging 137 HCC-10 LIVER c.2074G>T p.D692Y COSMIC NP Possibly Damaging 138 HCC-10 LIVER c.3485G>T p.G1162V COSMIC NP Probably Damaging 139 HCC-38 LIVER c.4602G>C p.Q1534H COSMIC NP Benign 140 HCC-38 LIVER c.4615T>C p.F1539L COSMIC NP Possibly Damaging 141 HCC06T LIVER c.4471C>T p.R1491* COSMIC NP NP 142 HCC105T LIVER c.2932C>T p.R978* COSMIC NP NP 143 HCC15 LUNG c.805delC p.M272fs*31 COSMIC NP NP 144 HCC28T LIVER c.513A>G p.P171P COSMIC NP NP 145 HCC3T LIVER c.1666C>T p.Q556* COSMIC NP NP 146 HCC41T LIVER c.3574C>G p.R1192G COSMIC NP Probably Damaging 147 HCT-116 LARGE INTESTINE c.3488T>C p.L1163P COSMIC NP Probably Damaging 148 HCT-116 LARGE INTESTINE c.363_364insC p.S122fs*7 COSMIC NP NP 149 HCT-15 LARGE INTESTINE c.2653C>T p.R885C COSMIC NP Probably Damaging 150 HN_00076 UPPER AERODIGESTIVE TRACT c.3566G>A p.R1189Q COSMIC NP Probably Damaging 151 HN_62921 UPPER AERODIGESTIVE TRACT c.3702C>A p.F1234L COSMIC NP Possibly Damaging 152 Hs-578-T BREAST c.589C>T p.P197S COSMIC NP Probably Damaging 153 Hs-700-T PANCREAS c.729delC p.P244fs*59 COSMIC NP NP 154 Hs683 CENTRAL NERVOUS SYSTEM c.4826T>C p.L1609P COSMIC NP Possibly Damaging 155 ICGC_MB14 CENTRAL NERVOUS SYSTEM c.2729C>T p.T910M COSMIC NP Probably Damaging 156 ICGC_MB20 CENTRAL NERVOUS SYSTEM c.3694G>A p.G1232S COSMIC NP Probably Damaging 157 ICGC_MB39 CENTRAL NERVOUS SYSTEM c.3403C>T p.R1135W COSMIC NP Probably Damaging 158 ICGC_MB800 CENTRAL NERVOUS SYSTEM c.2735C>A p.T912K COSMIC NP Probably Damaging 159 ICGC_MB9 CENTRAL NERVOUS SYSTEM c.2461G>A p.E821K COSMIC NP Probably Damaging 160 K27 KIDNEY c.3424T>G p.F1142V COSMIC NP Probably Damaging 161 LAU165 SKIN c.3146C>T p.P1049L COSMIC NP Probably Damaging 162 LAU165 SKIN c.3147C>T p.P1049P COSMIC NP NP 163 LAU50_1 SKIN c.4271C>T p.P1424L COSMIC NP Probably Damaging 164 LAU50_2 SKIN c.4271C>T p.P1424L COSMIC NP Probably Damaging 165 LC_C18 LUNG c.2988delC p.K997fs*22 COSMIC NP NP 166 LC_C18 LUNG c.2989delA p.K997fs*22 COSMIC NP NP 167 LC_C9 LUNG c.2936G>T p.R979L COSMIC NP Probably Damaging 168 LC_S11 LUNG c.302G>T p.G101V COSMIC NP Possibly Damaging 169 LUAD-5V8LT LUNG c.3475G>T p.G1159W COSMIC NP Probably Damaging 170 LUAD-B02477 LUNG c.991C>T p.Q331* COSMIC NP NP 171 LUAD-CHTN-MAD06-00668 LUNG c.2008G>T p.E670* COSMIC NP NP 172 LUAD-CHTN-Z4716A LUNG c.3706C>T p.Q1236* COSMIC NP NP 173 LUAD-D01382 LUNG c.2011G>T p.E671* COSMIC NP NP 174 LUAD-D01603 LUNG c.1750A>T p.K584* COSMIC NP NP 175 LUAD-D02085 LUNG c.455delC p.P153fs*150 COSMIC NP NP 176 LUAD-F00282 LUNG c.4617C>G p.F1539L COSMIC NP Possibly Damaging 177 LUAD-F00365 LUNG c.1781G>C p.G594A COSMIC NP Benign 178 LUAD-F00368 LUNG c.1842C>T p.D614D COSMIC NP NP 179 LUAD-NYU408 LUNG c.3745G>T p.A1249S COSMIC NP Benign 180 LUAD-QY22Z LUNG c.1525G>T p.A509S COSMIC NP Benign 181 LUAD-RT-S01477 LUNG c.4233G>A p.R1411R COSMIC NP NP 182 LUAD-RT-S01777 LUNG c.2338G>A p.E780K COSMIC NP Probably Damaging 183 LUAD-RT-S01808 LUNG c.2207A>G p.H736R COSMIC NP Probably Damaging 184 LUAD-RT-S01818 LUNG c.4936G>A p.E1646K COSMIC NP Benign 185 LUAD-RT-S01840 LUNG c.4635G>T p.L1545L COSMIC NP NP 186 LUAD-S00486 LUNG c.1195A>T p.K399* COSMIC NP NP 187 LUAD-S01357 LUNG c.3056C>T p.T1019I COSMIC NP Probably Damaging 188 LUAD-S01467 LUNG c.3475delG p.L1161fs*3 COSMIC NP NP 189 LUAD_E01047 LUNG c.1458C>G p.F486L COSMIC NP Benign 190 MB108C CENTRAL NERVOUS SYSTEM c.3695G>A p.G1232D COSMIC NP Possibly Damaging 191 MB231PT CENTRAL NERVOUS SYSTEM c.2729C>T p.T910M COSMIC NP Probably Damaging 192 MB246PT CENTRAL NERVOUS SYSTEM c.3469C>T p.R1157W COSMIC NP Probably Damaging 193 MBRep_T28 CENTRAL NERVOUS SYSTEM c.4471C>T p.R1491* COSMIC NP NP 194 MD-143 CENTRAL NERVOUS SYSTEM c.3574C>T p.R1192C COSMIC NP Probably Damaging 195 MD-277 CENTRAL NERVOUS SYSTEM c.2729C>T p.T910M COSMIC NP Probably Damaging 196 MD-284 CENTRAL NERVOUS SYSTEM c.2729C>T p.T910M COSMIC NP Probably Damaging 197 MD-292 CENTRAL NERVOUS SYSTEM c.3572A>G p.H1191R COSMIC NP Probably Damaging 198 ME044T SKIN c.3469C>T p.R1157W COSMIC NP Probably Damaging 199 MZ7-mel SKIN c.3699G>A p.M1233I COSMIC NP Benign 200 Ma29 LUNG c.3166G>T p.E1056* COSMIC NP NP 201 NCI-H157 LUNG c.169delC p.T58fs*36 COSMIC NP NP 202 NCI-H1819 LUNG c.3254_3270del17 p.L1085fs*32 COSMIC NP NP 203 NCI-H2126 LUNG c.2290T>A p.W764R COSMIC NP Probably Damaging 204 NCI-H23 LUNG c.4698_4699GG>TT p.K1566_E1567>N* COSMIC NP NP 205 NCI-H522 LUNG c.805_806delCC p.P270fs*16 COSMIC NP NP 206 NCI-H522 LUNG c.809_810delCC p.P270fs*16 COSMIC NP NP 207 NCI-H661 LUNG c.3476delG p.L1161fs*3 COSMIC NP NP 208 OCC06PT OVARY c.3306C>G p.F1102L COSMIC NP Probably Damaging 209 OV207 OVARY c.1615C>T p.R539C COSMIC NP Probably Damaging 210 OVCAR3 OVARY c.1208A>G p.E403G COSMIC NP Probably Damaging 211 PACA70 PANCREAS c.3304T>C p.F1102L COSMIC NP Probably Damaging 212 PD2153a KIDNEY c.4801C>T p.R1601W COSMIC NP Probably Damaging 213 PLC-PRF-5 LIVER c.3993_3993delC p.K1332fs*26 COSMIC NP NP 214 Pa03C PANCREAS c.3586C>T p.Q1196* COSMIC NP NP 215 Pa120X PANCREAS c.3229C>T p.R1077* COSMIC NP NP 216 Pa135X PANCREAS c.3469C>T p.R1157W COSMIC NP Probably Damaging 217 Patient3_Tu HAEMATOPOIETIC AND LYMPHOID TISSUE c.416C>T p.P139L COSMIC NP Probably Damaging 218 RERF-LC-MS LUNG c.3729_3730delGC p.A1245fs*13 COSMIC NP NP 219 S00936 LUNG c.2687T>A p.V896E COSMIC NP Possibly Damaging 220 SA220 BREAST c.3306C>G p.F1102L COSMIC NP Probably Damaging 221 SJMB002 CENTRAL NERVOUS SYSTEM c.3694G>T p.G1232C COSMIC NP Probably Damaging 222 SJMB050 CENTRAL NERVOUS SYSTEM c.2837C>T p.P946L COSMIC NP Probably Damaging 223 SJMB051 CENTRAL NERVOUS SYSTEM c.3304T>C p.F1102L COSMIC NP Probably Damaging 224 SJMB062 CENTRAL NERVOUS SYSTEM c.2729C>T p.T910M COSMIC NP Probably Damaging 225 SJMB097 CENTRAL NERVOUS SYSTEM c.3727C>T p.R1243W COSMIC NP Probably Damaging 226 SJMB106 CENTRAL NERVOUS SYSTEM c.2461G>A p.E821K COSMIC NP Probably Damaging 227 SJMB123 CENTRAL NERVOUS SYSTEM c.2729C>T p.T910M COSMIC NP Probably Damaging 228 SJMB129 CENTRAL NERVOUS SYSTEM c.2651A>C p.H884P COSMIC NP Probably Damaging 229 SJTALL008 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2461G>A p.E821K COSMIC NP Probably Damaging 230 SK-MEL-5 SKIN c.3157delC p.Q1053fs*53 COSMIC NP NP 231 SNU-C2B LARGE INTESTINE c.3557C>T p.A1186V COSMIC NP Probably Damaging 232 SNU-C2B LARGE INTESTINE c.4007G>A p.R1336H COSMIC NP Probably Damaging 233 Su86_86 PANCREAS c.479A>G p.Q160R COSMIC NP Benign 234 TARGET-30-PANUIF AUTONOMIC GANGLIA c.3553C>A p.Q1185K COSMIC NP Possibly Damaging 235 TCGA-04-1342-01 OVARY c.3857_3858AG>CA p.E1286A COSMIC NP Possibly Damaging 236 TCGA-05-4432-01 LUNG c.3373A>G p.R1125G COSMIC NP Probably Damaging 237 TCGA-05-4432-01 LUNG c.3694G>A p.G1232S COSMIC NP Probably Damaging 238 TCGA-05-5420-01 LUNG c.1141C>T p.R381* COSMIC NP NP 239 TCGA-10-0934-01 OVARY c.2896C>T p.R966W COSMIC NP Probably Damaging 240 TCGA-13-1501-01 OVARY c.1428C>A p.L476L COSMIC NP NP 241 TCGA-18-3409-01 LUNG c.34C>T p.P12S COSMIC NP Probably Damaging 242 TCGA-18-3409-01 LUNG c.35C>T p.P12L COSMIC NP Probably Damaging 243 TCGA-21-1076-01 LUNG c.2080G>T p.D694Y COSMIC NP Benign 244 TCGA-21-5786-01 LUNG c.1562G>C p.R521P COSMIC NP Probably Damaging 245 TCGA-23-1123-01 OVARY c.2441C>A p.T814K COSMIC NP Probably Damaging 246 TCGA-24-1474-01 OVARY c.3324C>T p.L1108L COSMIC NP NP 247 TCGA-24-1604-01 OVARY c.1839C>T p.S613S COSMIC NP NP 248 TCGA-24-2260-01 OVARY c.2059A>G p.K687E COSMIC NP Benign 249 TCGA-33-6737-01 LUNG c.2581G>A p.E861K COSMIC NP Probably Damaging 250 TCGA-35-5375-01 LUNG c.4738G>T p.E1580* COSMIC NP NP 251 TCGA-37-4141-01 LUNG c.1975G>T p.E659* COSMIC NP NP 252 TCGA-38-4629-01 LUNG c.4617C>T p.F1539F COSMIC NP NP 253 TCGA-38-4631-01 LUNG c.3247G>T p.E1083* COSMIC NP NP 254 TCGA-39-5037-01 LUNG c.326C>T p.P109L COSMIC NP Probably Damaging 255 TCGA-44-2656-01 LUNG c.4015G>T p.E1339* COSMIC NP NP 256 TCGA-44-8117-01 LUNG c.1631A>C p.Q544P COSMIC NP Probably Damaging 257 TCGA-44-8119-01 LUNG c.2653C>T p.R885C COSMIC NP Probably Damaging 258 TCGA-49-6742-01 LUNG c.4477G>T p.E1493* COSMIC NP NP 259 TCGA-49-6767-01 LUNG c.1558G>T p.E520* COSMIC NP NP 260 TCGA-50-5072-01 LUNG c.3125T>C p.L1042P COSMIC NP Probably Damaging 261 TCGA-50-5936-01 LUNG c.1147C>T p.Q383* COSMIC NP NP 262 TCGA-50-6592-01 LUNG c.4089_4090GG>TT p.E1363_E1364>D* COSMIC NP NP 263 TCGA-53-7624-01 LUNG c.2539C>T p.Q847* COSMIC NP NP 264 TCGA-55-1596-01 LUNG c.3067G>C p.E1023Q COSMIC NP Possibly Damaging 265 TCGA-55-6543-01 LUNG c.4412A>G p.K1471R COSMIC NP Possibly Damaging 266 TCGA-55-6969-01 LUNG c.3584A>T p.Q1195L COSMIC NP Possibly Damaging 267 TCGA-55-6975-01 LUNG c.3523G>A p.D1175N COSMIC NP Probably Damaging 268 TCGA-55-8089-01 LUNG c.3744G>C p.Q1248H COSMIC NP Benign 269 TCGA-64-1680-01 LUNG c.2843C>T p.A948V COSMIC NP Possibly Damaging 270 TCGA-66-2785-01 LUNG c.3636G>C p.E1212D COSMIC NP Probably Damaging 271 TCGA-69-7974-01 LUNG c.2457G>A p.A819A COSMIC NP NP 272 TCGA-69-7980-01 LUNG c.3092G>T p.G1031V COSMIC NP Probably Damaging 273 TCGA-78-7148-01 LUNG c.3484G>T p.G1162C COSMIC NP Probably Damaging 274 TCGA-86-7711-01 LUNG c.1420G>T p.E474* COSMIC NP NP 275 TCGA-A2-A0EQ-01 BREAST c.538C>T p.L180F COSMIC NP Probably Damaging 276 TCGA-A2-A0T0-01 BREAST c.4735G>T p.E1579* COSMIC NP NP 277 TCGA-A3-3374-01 KIDNEY c.3203G>A p.G1068D COSMIC NP Benign 278 TCGA-A5-A0GB-01 ENDOMETRIUM c.4232G>A p.R1411Q COSMIC NP Probably Damaging 279 TCGA-A5-A0VP-01 ENDOMETRIUM c.2758G>A p.E920K COSMIC NP Probably Damaging 280 TCGA-A5-A0VP-01 ENDOMETRIUM c.3046G>A p.V1016M COSMIC NP Probably Damaging 281 TCGA-A6-6653-01 LARGE INTESTINE c.4051G>A p.D1351N COSMIC NP Probably Damaging 282 TCGA-A6-6781-01 LARGE INTESTINE c.2653C>T p.R885C COSMIC NP Probably Damaging 283 TCGA-A8-A06Q-01 BREAST c.4838G>A p.R1613Q COSMIC NP Possibly Damaging 284 TCGA-AA-3492-01 LARGE INTESTINE c.3811T>C p.F1271L COSMIC NP Benign 285 TCGA-AA-3518-01 LARGE INTESTINE c.2294T>G p.L765R COSMIC NP Probably Damaging 286 TCGA-AA-3524-01 LARGE INTESTINE c.2432C>G p.P811R COSMIC NP Probably Damaging 287 TCGA-AA-3529-01 LARGE INTESTINE c.3278G>A p.R1093Q COSMIC NP Benign 288 TCGA-AA-3558-01 LARGE INTESTINE c.1216G>A p.A406T COSMIC NP Benign 289 TCGA-AA-3663-01 LARGE INTESTINE c.4823G>A p.R1608Q COSMIC NP Possibly Damaging 290 TCGA-AA-3712-01 LARGE INTESTINE c.2654G>A p.R885H COSMIC NP Probably Damaging 291 TCGA-AA-3713-01 LARGE INTESTINE c.1674C>T p.D558D COSMIC NP NP 292 TCGA-AA-3815-01 LARGE INTESTINE c.2059A>G p.K687E COSMIC NP Benign 293 TCGA-AA-3977-01 LARGE INTESTINE c.1142G>A p.R381Q COSMIC NP Probably Damaging 294 TCGA-AA-A010-01 LARGE INTESTINE c.1142G>A p.R381Q COSMIC NP Probably Damaging 295 TCGA-AA-A022-01 LARGE INTESTINE c.1146T>C p.I382I COSMIC NP NP 296 TCGA-AA-A022-01 LARGE INTESTINE c.3165C>T p.I1055I COSMIC NP NP 297 TCGA-AD-6889-01 LARGE INTESTINE c.322delC p.P109fs*194 COSMIC NP NP 298 TCGA-AD-6964-01 LARGE INTESTINE c.4105C>A p.R1369S COSMIC NP Possibly Damaging 299 TCGA-AG-4007-01 LARGE INTESTINE c.2986A>T p.I996F COSMIC NP Probably Damaging 300 TCGA-AG-A002-01 LARGE INTESTINE c.4200C>T p.I1400I COSMIC NP NP 301 TCGA-AG-A02N-01 LARGE INTESTINE c.1959G>A p.P653P COSMIC NP NP 302 TCGA-AP-A059-01 ENDOMETRIUM c.3631G>A p.E1211K COSMIC NP Possibly Damaging 303 TCGA-AP-A059-01 ENDOMETRIUM c.451G>A p.G151S COSMIC NP Benign 304 TCGA-AP-A0LM-01 ENDOMETRIUM c.4201G>A p.E1401K COSMIC NP Probably Damaging 305 TCGA-AP-A0LT-01 ENDOMETRIUM c.2402G>A p.R801H COSMIC NP Probably Damaging 306 TCGA-AU-6004-01 LARGE INTESTINE c.3834A>G p.P1278P COSMIC NP NP 307 TCGA-AX-A05Z-01 ENDOMETRIUM c.1142G>A p.R381Q COSMIC NP Probably Damaging 308 TCGA-AX-A0J1-01 ENDOMETRIUM c.3356G>A p.R1119H COSMIC NP Probably Damaging 309 TCGA-AX-A0J1-01 ENDOMETRIUM c.4606G>A p.A1536T COSMIC NP Probably Damaging 310 TCGA-AY-6197-01 LARGE INTESTINE c.254C>T p.S85L COSMIC NP Benign 311 TCGA-AZ-6598-01 LARGE INTESTINE c.590C>A p.P197H COSMIC NP Probably Damaging 312 TCGA-AZ-6600-01 LARGE INTESTINE c.3324C>T p.L1108L COSMIC NP NP 313 TCGA-AZ-6601-01 LARGE INTESTINE c.3481C>T p.L1161F COSMIC NP Probably Damaging 314 TCGA-AZ-6603-01 LARGE INTESTINE c.2655C>G p.R885R COSMIC NP NP 315 TCGA-B0-5702-01 KIDNEY c.2738C>A p.P913Q COSMIC NP Probably Damaging 316 TCGA-B0-5812-01 KIDNEY c.3379G>T p.D1127Y COSMIC NP Probably Damaging 317 TCGA-B5-A0JY-01 ENDOMETRIUM c.4315A>C p.K1439Q COSMIC NP Benign 318 TCGA-B5-A0K2-01 ENDOMETRIUM c.1683G>T p.V561V COSMIC NP NP 319 TCGA-B5-A11E-01 ENDOMETRIUM c.2298G>A p.V766V COSMIC NP NP 320 TCGA-B5-A11H-01 ENDOMETRIUM c.3005C>T p.A1002V COSMIC NP Possibly Damaging 321 TCGA-B6-A0X5-01 BREAST c.254C>T p.S85L COSMIC NP Benign 322 TCGA-BG-A0MG-01 ENDOMETRIUM c.2713C>T p.R905C COSMIC NP Probably Damaging 323 TCGA-BG-A18B-01 ENDOMETRIUM c.4559G>A p.R1520H COSMIC NP Possibly Damaging 324 TCGA-BH-A0B8-01 BREAST c.3768_3769delGG p.D1257fs*1 COSMIC NP NP 325 TCGA-BH-A0B8-01 BREAST c.3770_3771insC p.E1258fs*1 COSMIC NP NP 326 TCGA-BP-4964-01 KIDNEY c.3727C>T p.R1243W COSMIC NP Probably Damaging 327 TCGA-BP-4992-01 KIDNEY c.3557C>G p.A1186G COSMIC NP Probably Damaging 328 TCGA-BS-A0TJ-01 ENDOMETRIUM c.3694G>A p.G1232S COSMIC NP Probably Damaging 329 TCGA-BS-A0UF-01 ENDOMETRIUM c.3315G>T p.M1105I COSMIC NP Probably Damaging 330 TCGA-BS-A0V8-01 ENDOMETRIUM c.1108C>T p.R370C COSMIC NP Probably Damaging 331 TCGA-BT-A20T-01 URINARY TRACT c.2357C>A p.T786N COSMIC NP Probably Damaging 332 TCGA-BT-A2LD-01 URINARY TRACT c.3403C>T p.R1135W COSMIC NP Probably Damaging 333 TCGA-CA-6717-01 LARGE INTESTINE c.4148T>C p.L1383P COSMIC NP Probably Damaging 334 TCGA-CI-6620-01 LARGE INTESTINE c.400G>A p.V134I COSMIC NP Benign 335 TCGA-CK-4950-01 LARGE INTESTINE c.1426C>G p.L476V COSMIC NP Probably Damaging 336 TCGA-CM-4746-01 LARGE INTESTINE c.1058delC p.I355fs*56 COSMIC NP NP 337 TCGA-CM-4746-01 LARGE INTESTINE c.3557C>T p.A1186V COSMIC NP Probably Damaging 338 TCGA-CM-4752-01 LARGE INTESTINE c.1757A>G p.K586R COSMIC NP Benign 339 TCGA-CM-5344-01 LARGE INTESTINE c.589C>G p.P197A COSMIC NP Probably Damaging 340 TCGA-CM-5348-01 LARGE INTESTINE c.3557C>T p.A1186V COSMIC NP Probably Damaging 341 TCGA-CM-6161-01 LARGE INTESTINE c.2440A>G p.T814A COSMIC NP Probably Damaging 342 TCGA-CM-6674-01 LARGE INTESTINE c.1426C>T p.L476F COSMIC NP Probably Damaging 343 TCGA-CU-A3KJ-01 URINARY TRACT c.3099G>C p.K1033N COSMIC NP Probably Damaging 344 TCGA-CZ-5453-01 KIDNEY c.1917G>T p.L639L COSMIC NP NP 345 TCGA-D1-A103-01 ENDOMETRIUM c.2022G>A p.P674P COSMIC NP NP 346 TCGA-D1-A103-01 ENDOMETRIUM c.2682G>A p.T894T COSMIC NP NP 347 TCGA-D1-A103-01 ENDOMETRIUM c.3374G>T p.R1125M COSMIC NP Probably Damaging 348 TCGA-D1-A15Z-01 ENDOMETRIUM c.3630_3632delGGA p.E1212delE COSMIC NP NP 349 TCGA-D1-A17D-01 ENDOMETRIUM c.4090G>A p.E1364K COSMIC NP Possibly Damaging 350 TCGA-D1-A17Q-01 ENDOMETRIUM c.4158G>A p.K1386K COSMIC NP NP 351 TCGA-D1-A17U-01 ENDOMETRIUM c.2322C>T p.N774N COSMIC NP NP 352 TCGA-D1-A1NU-01 ENDOMETRIUM c.1590C>G p.L530L COSMIC NP NP 353 TCGA-D5-5537-01 LARGE INTESTINE c.1959G>A p.P653P COSMIC NP NP 354 TCGA-D5-6534-01 LARGE INTESTINE c.4051G>A p.D1351N COSMIC NP Probably Damaging 355 TCGA-D5-6536-01 LARGE INTESTINE c.1427T>C p.L476P COSMIC NP Probably Damaging 356 TCGA-D5-6928-01 LARGE INTESTINE c.2653C>T p.R885C COSMIC NP Probably Damaging 357 TCGA-D5-6928-01 LARGE INTESTINE c.4067G>A p.R1356Q COSMIC NP Possibly Damaging 358 TCGA-D8-A140-01 BREAST c.1860C>T p.I620I COSMIC NP NP 359 TCGA-DI-A0WH-01 ENDOMETRIUM c.2578T>C p.Y860H COSMIC NP Probably Damaging 360 TCGA-DK-A1A5-01 URINARY TRACT c.2376C>T p.L792L COSMIC NP NP 361 TCGA-DK-A2HX-01 URINARY TRACT c.37C>T p.R13W COSMIC NP Probably Damaging 362 TCGA-DK-A3IS-01 URINARY TRACT c.2427C>T p.I809I COSMIC NP NP 363 TCGA-DM-A0X9-01 LARGE INTESTINE c.3348T>C p.F1116F COSMIC NP NP 364 TCGA-DY-A1DG-01 LARGE INTESTINE c.2290T>C p.W764R COSMIC NP Probably Damaging 365 TCGA-E2-A10C-01 BREAST c.4702G>A p.D1568N COSMIC NP Benign 366 TCGA-E2-A15C-01 BREAST c.2484C>G p.S828S COSMIC NP NP 367 TCGA-G2-A2EF-01 URINARY TRACT c.4177G>A p.E1393K COSMIC NP Probably Damaging 368 TCGA-G2-A2EO-01 URINARY TRACT c.2220G>A p.E740E COSMIC NP NP 369 TCGA-G2-A2EO-01 URINARY TRACT c.2222G>A p.R741K COSMIC NP Benign 370 TCGA-G2-A2ES-01 URINARY TRACT c.98G>A p.G33D COSMIC NP Probably Damaging 371 TCGA-G4-6299-01 LARGE INTESTINE c.3324C>A p.L1108L COSMIC NP NP 372 TCGA-G4-6310-01 LARGE INTESTINE c.2897G>T p.R966L COSMIC NP Probably Damaging 373 TCGA-G4-6321-01 LARGE INTESTINE c.4887T>C p.D1629D COSMIC NP NP 374 TCGA-G4-6588-01 LARGE INTESTINE c.1130G>A p.R377H COSMIC NP Probably Damaging 375 TCGA-G4-6626-01 LARGE INTESTINE c.3324C>A p.L1108L COSMIC NP NP 376 WiDr LARGE INTESTINE c.3850G>A p.D1284N COSMIC NP Probably Damaging 377 YUDEXA SKIN c.2260C>T p.L754F COSMIC NP Probably Damaging 378 YUFLA SKIN c.2620C>T p.R874C COSMIC NP Probably Damaging 379 YULAN SKIN c.4367C>T p.P1456L COSMIC NP Benign 380 YUMER SKIN c.4030C>T p.P1344S COSMIC NP Probably Damaging 381 YUWAND SKIN c.2351G>A p.G784E COSMIC NP Probably Damaging 382 ccRCC-74 KIDNEY c.2729C>T p.T910M COSMIC NP Probably Damaging 383 tumor_4182393 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2918G>A p.R973Q COSMIC NP Probably Damaging 384 tumor_4194218 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2917C>T p.R973W COSMIC NP Probably Damaging
*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 is not available in PDB -
Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PF08880 QLQ 171 206 4.7e-15 PB014261 Pfam-B_14261 403 591 1.7e-07 PF07529 HSA 460 532 4.7e-18 PB014974 Pfam-B_14974 533 570 2.5e-09 PF07533 BRK 610 655 4.5e-18 PF00176 SNF2_N 757 1051 1.9e-79 PF00271 Helicase_C 1117 1194 5.4e-15 PB008129 Pfam-B_8129 1125 1215 1.3e-05 PF14619 SnAC 1322 1389 3.2e-19 PB017897 Pfam-B_17897 1436 1481 3.1e-06 PF00439 Bromodomain 1477 1550 2.5e-22 2. Superfamily Domains:Domain ID Start Site End Site E-value 0051485 981 1240 2.88e-67 0051486 735 979 2.89e-61 0046608 1442 1569 3.66e-32 0054691 601 673 1.70e-21 -
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 (+)
$x "); for($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 (+)
