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: PRDM9 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 020 HAEMATOPOIETIC AND LYMPHOID TISSUE c.827A>T p.Y276F COSMIC PASSENGER/OTHER Probably Damaging 2 020-0049-01TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.827A>T p.Y276F COSMIC PASSENGER/OTHER Probably Damaging 3 100 BREAST c.920G>A p.G307E COSMIC PASSENGER/OTHER Benign 4 100-02-2TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.920G>A p.G307E COSMIC PASSENGER/OTHER Benign 5 134427 LUNG c.2627G>C p.C876S COSMIC PASSENGER/OTHER Benign 6 2334187 LUNG c.1377G>T p.R459S COSMIC PASSENGER/OTHER Benign 7 2334201 LUNG c.1499C>A p.T500K COSMIC PASSENGER/OTHER Probably Damaging 8 585258 LUNG c.1544G>C p.G515A COSMIC PASSENGER/OTHER Benign 9 587228 LARGE INTESTINE c.696G>T p.K232N COSMIC PASSENGER/OTHER Probably Damaging 10 587232 LARGE INTESTINE c.2516G>A p.R839Q COSMIC PASSENGER/OTHER Possibly Damaging 11 587238 LARGE INTESTINE c.664C>T p.P222S COSMIC PASSENGER/OTHER Probably Damaging 12 587306 LARGE INTESTINE c.153T>A p.Y51* COSMIC NP NP 13 587332 LARGE INTESTINE c.338G>A p.R113H COSMIC PASSENGER/OTHER Possibly Damaging 14 587342 LARGE INTESTINE c.31C>A p.P11T COSMIC PASSENGER/OTHER Benign 15 587376 LARGE INTESTINE c.2506G>A p.E836K COSMIC PASSENGER/OTHER Possibly Damaging 16 587376 LARGE INTESTINE c.44C>T p.T15I COSMIC PASSENGER/OTHER Benign 17 587376 LARGE INTESTINE c.836G>A p.R279Q COSMIC PASSENGER/OTHER Benign 18 98711 LUNG c.122C>A p.A41E COSMIC PASSENGER/OTHER Benign 19 98735 LUNG c.1678G>T p.G560C COSMIC PASSENGER/OTHER Benign 20 CLL104 HAEMATOPOIETIC AND LYMPHOID TISSUE c.727C>A p.P243T COSMIC PASSENGER/OTHER Probably Damaging 21 Capan-1 PANCREAS c.504A>T p.K168N COSMIC PASSENGER/OTHER Probably Damaging 22 ESO-005 OESOPHAGUS c.631T>G p.F211V COSMIC PASSENGER/OTHER Possibly Damaging 23 ESO-0053 OESOPHAGUS c.724C>A p.L242M COSMIC PASSENGER/OTHER Probably Damaging 24 ESO-0149 OESOPHAGUS c.275A>G p.D92G COSMIC PASSENGER/OTHER Probably Damaging 25 ESO-0292 OESOPHAGUS c.2209A>G p.R737G COSMIC PASSENGER/OTHER Benign 26 ESO-077 OESOPHAGUS c.1766T>A p.F589Y COSMIC PASSENGER/OTHER Probably Damaging 27 ESO-1145 OESOPHAGUS c.1474A>C p.R492R COSMIC NP NP 28 ESO-1163 OESOPHAGUS c.475A>C p.S159R COSMIC PASSENGER/OTHER Benign 29 ESO-118 OESOPHAGUS c.2531A>C p.K844T COSMIC PASSENGER/OTHER Possibly Damaging 30 ESO-1608 OESOPHAGUS c.198C>T p.L66L COSMIC NP NP 31 ESO-169 OESOPHAGUS c.281A>C p.E94A COSMIC PASSENGER/OTHER Probably Damaging 32 ESO-2472 OESOPHAGUS c.1014G>T p.Q338H COSMIC PASSENGER/OTHER Possibly Damaging 33 ESO-717 OESOPHAGUS c.338G>T p.R113L COSMIC PASSENGER/OTHER Benign 34 ESO-913 OESOPHAGUS c.367T>C p.S123P COSMIC PASSENGER/OTHER Benign 35 ESOSCC152T OESOPHAGUS c.151T>C p.Y51H COSMIC PASSENGER/OTHER Probably Damaging 36 ESOSCC159T OESOPHAGUS c.2588G>A p.R863K COSMIC PASSENGER/OTHER Benign 37 H2171 LUNG c.697G>T p.G233W COSMIC PASSENGER/OTHER Probably Damaging 38 HN_00076 UPPER AERODIGESTIVE TRACT c.1050C>T p.G350G COSMIC NP NP 39 HN_00190 UPPER AERODIGESTIVE TRACT c.1398G>T p.R466S COSMIC PASSENGER/OTHER Benign 40 HN_62338 UPPER AERODIGESTIVE TRACT c.953A>T p.Y318F COSMIC PASSENGER/OTHER Possibly Damaging 41 HN_62415 UPPER AERODIGESTIVE TRACT c.2551C>A p.Q851K COSMIC PASSENGER/OTHER Possibly Damaging 42 HN_62421 UPPER AERODIGESTIVE TRACT c.1634C>G p.T545R COSMIC PASSENGER/OTHER Possibly Damaging 43 HN_62506 UPPER AERODIGESTIVE TRACT c.2259T>A p.C753* COSMIC NP NP 44 HN_62652 UPPER AERODIGESTIVE TRACT c.2273G>A p.R758H COSMIC PASSENGER/OTHER Possibly Damaging 45 HN_62739 UPPER AERODIGESTIVE TRACT c.321C>T p.A107A COSMIC NP NP 46 HN_62825 UPPER AERODIGESTIVE TRACT c.593A>T p.Q198L COSMIC PASSENGER/OTHER Probably Damaging 47 HN_62897 UPPER AERODIGESTIVE TRACT c.31C>A p.P11T COSMIC PASSENGER/OTHER Benign 48 HN_62921 UPPER AERODIGESTIVE TRACT c.104T>A p.F35Y COSMIC PASSENGER/OTHER Probably Damaging 49 LUAD-B02594 LUNG c.2576C>A p.P859H COSMIC PASSENGER/OTHER Probably Damaging 50 LUAD-CHTN-MAD06-00490 LUNG c.174T>A p.Y58* COSMIC NP NP 51 LUAD-CHTN-MAD06-00668 LUNG c.1749G>T p.R583S COSMIC PASSENGER/OTHER Benign 52 LUAD-CHTN-MAD06-00668 LUNG c.936G>T p.W312C COSMIC PASSENGER/OTHER Possibly Damaging 53 LUAD-CHTN-Z4716A LUNG c.1311G>T p.Q437H COSMIC PASSENGER/OTHER Possibly Damaging 54 LUAD-D01603 LUNG c.1465G>T p.V489L COSMIC PASSENGER/OTHER Possibly Damaging 55 LUAD-D01751 LUNG c.1068G>T p.W356C COSMIC PASSENGER/OTHER Probably Damaging 56 LUAD-E00443 LUNG c.967C>A p.R323R COSMIC NP NP 57 LUAD-E00897 LUNG c.19C>A p.Q7K COSMIC PASSENGER/OTHER Benign 58 LUAD-E00897 LUNG c.379G>T p.E127* COSMIC NP NP 59 LUAD-E00918 LUNG c.669A>T p.T223T COSMIC NP NP 60 LUAD-E00934 LUNG c.2275G>A p.D759N COSMIC PASSENGER/OTHER Possibly Damaging 61 LUAD-F00162 LUNG c.1801_1802delAC p.T603fs*15 COSMIC NP NP 62 LUAD-F00368 LUNG c.2651G>T p.G884V COSMIC PASSENGER/OTHER Probably Damaging 63 LUAD-NYU1021 LUNG c.1594G>C p.G532R COSMIC PASSENGER/OTHER Benign 64 LUAD-NYU284 LUNG c.842C>A p.T281K COSMIC PASSENGER/OTHER Probably Damaging 65 LUAD-NYU627 LUNG c.1093C>A p.L365M COSMIC PASSENGER/OTHER Probably Damaging 66 LUAD-RT-S01699 LUNG c.2408C>A p.P803H COSMIC PASSENGER/OTHER Probably Damaging 67 LUAD-RT-S01774 LUNG c.424delG p.A142fs*26 COSMIC NP NP 68 LUAD-RT-S01840 LUNG c.1457G>T p.S486I COSMIC PASSENGER/OTHER Possibly Damaging 69 LUAD-S00488 LUNG c.2298C>A p.H766Q COSMIC CANCER Probably Damaging 70 LUAD-S01302 LUNG c.2148G>A p.G716G COSMIC NP NP 71 LUAD-S01354 LUNG c.7C>A p.P3T COSMIC PASSENGER/OTHER Benign 72 LUAD-S01357 LUNG c.730C>T p.P244S COSMIC PASSENGER/OTHER Probably Damaging 73 LUAD-S01405 LUNG c.1548_1557del10 p.G517fs*>375 COSMIC NP NP 74 LUAD-S01405 LUNG c.1802C>G p.T601R COSMIC PASSENGER/OTHER Possibly Damaging 75 LUAD-S01409 LUNG c.2469G>T p.Q823H COSMIC PASSENGER/OTHER Probably Damaging 76 LUAD-U6SJ7 LUNG c.2315G>T p.G772V COSMIC PASSENGER/OTHER Probably Damaging 77 LUAD-VUMN6 LUNG c.799C>G p.L267V COSMIC PASSENGER/OTHER Probably Damaging 78 LUAD-YINHD LUNG c.582C>A p.V194V COSMIC NP NP 79 LUAD-YINHD LUNG c.942C>A p.N314K COSMIC PASSENGER/OTHER Probably Damaging 80 LUAD_E00565 LUNG c.2184C>A p.G728G COSMIC NP NP 81 LUAD_E00623 LUNG c.507G>T p.L169L COSMIC NP NP 82 MBRep_T56 CENTRAL NERVOUS SYSTEM c.561G>A p.K187K COSMIC NP NP 83 MD-290 CENTRAL NERVOUS SYSTEM c.2525G>A p.R842H COSMIC PASSENGER/OTHER Possibly Damaging 84 ME002T SKIN c.1119G>A p.W373* COSMIC NP NP 85 ME024T NS c.2358A>C p.R786S COSMIC PASSENGER/OTHER Benign 86 ME029T SKIN c.2023T>C p.W675R COSMIC PASSENGER/OTHER Benign 87 ME029T SKIN c.2527A>G p.N843D COSMIC PASSENGER/OTHER Benign 88 ME030T SKIN c.1802C>G p.T601R COSMIC PASSENGER/OTHER Possibly Damaging 89 ME030T SKIN c.2440A>C p.S814R COSMIC PASSENGER/OTHER Possibly Damaging 90 ME041T SKIN c.1337G>A p.S446N COSMIC PASSENGER/OTHER Benign 91 ME041T SKIN c.2527A>G p.N843D COSMIC PASSENGER/OTHER Benign 92 ME100L SKIN c.1790C>G p.T597S COSMIC PASSENGER/OTHER Benign 93 Mx30 LARGE INTESTINE c.1567A>G p.K523E COSMIC PASSENGER/OTHER Benign 94 Mx34 LARGE INTESTINE c.932C>A p.S311Y COSMIC PASSENGER/OTHER Possibly Damaging 95 NB-1110 AUTONOMIC GANGLIA c.209G>T p.R70L COSMIC PASSENGER/OTHER Possibly Damaging 96 OLID09 CENTRAL NERVOUS SYSTEM c.967C>T p.R323W COSMIC PASSENGER/OTHER Benign 97 P05-620 PROSTATE c.338G>A p.R113H COSMIC PASSENGER/OTHER Possibly Damaging 98 PA195 PANCREAS c.888C>G p.T296T COSMIC NP NP 99 PD4937a BREAST c.1078G>A p.E360K COSMIC PASSENGER/OTHER Probably Damaging 100 Pa09C PANCREAS c.1602T>G p.S534R COSMIC PASSENGER/OTHER Benign 101 S00050 LUNG c.2515C>A p.R839R COSMIC NP NP 102 S00356 LUNG c.1365G>T p.E455D COSMIC PASSENGER/OTHER Possibly Damaging 103 S00501 LUNG c.2138C>G p.T713R COSMIC PASSENGER/OTHER Possibly Damaging 104 S00501 LUNG c.2295A>T p.R765S COSMIC PASSENGER/OTHER Benign 105 S00539 LUNG c.410C>T p.A137V COSMIC PASSENGER/OTHER Possibly Damaging 106 S00836 LUNG c.803C>A p.P268Q COSMIC PASSENGER/OTHER Probably Damaging 107 S00837 LUNG c.1432A>C p.S478R COSMIC PASSENGER/OTHER Possibly Damaging 108 S00936 LUNG c.2114C>T p.S705L COSMIC PASSENGER/OTHER Possibly Damaging 109 S00944 LUNG c.25G>C p.E9Q COSMIC PASSENGER/OTHER Benign 110 S00945 LUNG c.2290C>T p.L764F COSMIC PASSENGER/OTHER Benign 111 S01563 LUNG c.1675C>A p.R559R COSMIC NP NP 112 TCGA-05-4244-01 LUNG c.2476C>A p.H826N COSMIC PASSENGER/OTHER Probably Damaging 113 TCGA-05-4398-01 LUNG c.2340G>T p.E780D COSMIC PASSENGER/OTHER Possibly Damaging 114 TCGA-05-4405-01 LUNG c.279A>T p.E93D COSMIC PASSENGER/OTHER Probably Damaging 115 TCGA-05-4410-01 LUNG c.1289C>A p.P430H COSMIC PASSENGER/OTHER Benign 116 TCGA-05-4417-01 LUNG c.847G>T p.D283Y COSMIC PASSENGER/OTHER Probably Damaging 117 TCGA-05-4430-01 LUNG c.2424G>T p.E808D COSMIC PASSENGER/OTHER Possibly Damaging 118 TCGA-05-5428-01 LUNG c.745G>T p.G249W COSMIC PASSENGER/OTHER Probably Damaging 119 TCGA-13-0910-01 OVARY c.1959T>C p.T653T COSMIC NP NP 120 TCGA-13-1411-01 OVARY c.101A>G p.Y34C COSMIC PASSENGER/OTHER Probably Damaging 121 TCGA-18-4083-01 LUNG c.2240C>A p.P747H COSMIC PASSENGER/OTHER Probably Damaging 122 TCGA-18-4083-01 LUNG c.2241C>A p.P747P COSMIC NP NP 123 TCGA-22-1002-01 LUNG c.208C>T p.R70* COSMIC NP NP 124 TCGA-22-4591-01 LUNG c.2573A>T p.K858M COSMIC PASSENGER/OTHER Probably Damaging 125 TCGA-22-4595-01 LUNG c.1034G>T p.R345L COSMIC PASSENGER/OTHER Probably Damaging 126 TCGA-22-4613-01 LUNG c.505C>A p.L169M COSMIC PASSENGER/OTHER Possibly Damaging 127 TCGA-22-5471-01 LUNG c.1834G>A p.E612K COSMIC PASSENGER/OTHER Benign 128 TCGA-24-1844-01 OVARY c.121G>A p.A41T COSMIC PASSENGER/OTHER Benign 129 TCGA-24-2289-01 OVARY c.2058C>G p.H686Q COSMIC PASSENGER/OTHER Possibly Damaging 130 TCGA-25-1319-01 OVARY c.2480C>G p.T827R COSMIC PASSENGER/OTHER Possibly Damaging 131 TCGA-25-1329-01 OVARY c.1148C>G p.P383R COSMIC PASSENGER/OTHER Possibly Damaging 132 TCGA-29-1761-01 OVARY c.478A>T p.T160S COSMIC PASSENGER/OTHER Benign 133 TCGA-29-1762-01 OVARY c.1855C>T p.R619W COSMIC PASSENGER/OTHER Benign 134 TCGA-33-4538-01 LUNG c.168G>T p.R56S COSMIC PASSENGER/OTHER Probably Damaging 135 TCGA-33-4566-01 LUNG c.1326A>T p.P442P COSMIC NP NP 136 TCGA-33-4566-01 LUNG c.765G>T p.Q255H COSMIC PASSENGER/OTHER Possibly Damaging 137 TCGA-33-4566-01 LUNG c.98T>A p.I33K COSMIC PASSENGER/OTHER Possibly Damaging 138 TCGA-34-5231-01 LUNG c.79G>T p.A27S COSMIC PASSENGER/OTHER Possibly Damaging 139 TCGA-35-4122-01 LUNG c.315G>T p.W105C COSMIC PASSENGER/OTHER Possibly Damaging 140 TCGA-38-4626-01 LUNG c.654C>G p.A218A COSMIC NP NP 141 TCGA-43-3920-01 LUNG c.1505A>T p.Q502L COSMIC PASSENGER/OTHER Probably Damaging 142 TCGA-43-3920-01 LUNG c.195T>C p.G65G COSMIC NP NP 143 TCGA-44-2657-01 LUNG c.66C>A p.P22P COSMIC NP NP 144 TCGA-44-2659-01 LUNG c.2478C>A p.H826Q COSMIC PASSENGER/OTHER Probably Damaging 145 TCGA-44-2659-01 LUNG c.307C>A p.P103T COSMIC PASSENGER/OTHER Possibly Damaging 146 TCGA-44-7671-01 LUNG c.2672G>T p.R891M COSMIC PASSENGER/OTHER Probably Damaging 147 TCGA-44-8117-01 LUNG c.1168T>C p.C390R COSMIC PASSENGER/OTHER Probably Damaging 148 TCGA-49-4490-01 LUNG c.603T>C p.D201D COSMIC NP NP 149 TCGA-49-6743-01 LUNG c.2399G>T p.G800V COSMIC PASSENGER/OTHER Probably Damaging 150 TCGA-49-6744-01 LUNG c.586G>A p.E196K COSMIC PASSENGER/OTHER Possibly Damaging 151 TCGA-50-5049-01 LUNG c.94T>A p.S32T COSMIC PASSENGER/OTHER Probably Damaging 152 TCGA-50-5066-01 LUNG c.2226C>G p.H742Q COSMIC PASSENGER/OTHER Probably Damaging 153 TCGA-50-5066-02 LUNG c.2226C>G p.H742Q COSMIC PASSENGER/OTHER Probably Damaging 154 TCGA-50-5933-01 LUNG c.1745G>T p.C582F COSMIC CANCER Probably Damaging 155 TCGA-50-5946-01 LUNG c.1757G>T p.G586V COSMIC PASSENGER/OTHER Probably Damaging 156 TCGA-50-5946-02 LUNG c.1757G>T p.G586V COSMIC PASSENGER/OTHER Probably Damaging 157 TCGA-50-5946-02 LUNG c.2496T>C p.Y832Y COSMIC NP NP 158 TCGA-50-6590-01 LUNG c.769G>A p.G257R COSMIC CANCER Probably Damaging 159 TCGA-50-6592-01 LUNG c.1682T>A p.F561Y COSMIC PASSENGER/OTHER Probably Damaging 160 TCGA-50-6593-01 LUNG c.1327G>A p.D443N COSMIC PASSENGER/OTHER Benign 161 TCGA-50-6593-01 LUNG c.1372G>T p.E458* COSMIC NP NP 162 TCGA-50-6593-01 LUNG c.1389G>A p.L463L COSMIC NP NP 163 TCGA-50-6593-01 LUNG c.1404G>A p.W468* COSMIC NP NP 164 TCGA-50-7109-01 LUNG c.1032C>T p.C344C COSMIC NP NP 165 TCGA-53-7624-01 LUNG c.110A>G p.K37R COSMIC PASSENGER/OTHER Probably Damaging 166 TCGA-55-1592-01 LUNG c.645C>T p.S215S COSMIC NP NP 167 TCGA-55-1596-01 LUNG c.1083C>A p.Y361* COSMIC NP NP 168 TCGA-55-6985-01 LUNG c.1821C>T p.P607P COSMIC NP NP 169 TCGA-55-6986-01 LUNG c.2598G>A p.G866G COSMIC NP NP 170 TCGA-55-7227-01 LUNG c.565C>T p.H189Y COSMIC PASSENGER/OTHER Possibly Damaging 171 TCGA-55-7281-01 LUNG c.663C>A p.P221P COSMIC NP NP 172 TCGA-55-7574-01 LUNG c.1794C>A p.H598Q COSMIC CANCER Probably Damaging 173 TCGA-55-7725-01 LUNG c.2496T>C p.Y832Y COSMIC NP NP 174 TCGA-55-7727-01 LUNG c.2496T>C p.Y832Y COSMIC NP NP 175 TCGA-55-7907-01 LUNG c.1524C>A p.N508K COSMIC PASSENGER/OTHER Benign 176 TCGA-55-7910-01 LUNG c.337C>A p.R113S COSMIC PASSENGER/OTHER Benign 177 TCGA-55-7911-01 LUNG c.519G>A p.K173K COSMIC NP NP 178 TCGA-60-2698-01 LUNG c.1475G>A p.R492K COSMIC PASSENGER/OTHER Benign 179 TCGA-60-2698-01 LUNG c.2373C>A p.L791L COSMIC NP NP 180 TCGA-60-2724-01 LUNG c.2244T>C p.Y748Y COSMIC NP NP 181 TCGA-61-1998-01 OVARY c.796G>A p.D266N COSMIC PASSENGER/OTHER Probably Damaging 182 TCGA-63-6202-01 LUNG c.2208C>A p.L736L COSMIC NP NP 183 TCGA-64-5775-01 LUNG c.18C>T p.S6S COSMIC NP NP 184 TCGA-66-2734-01 LUNG c.885C>A p.I295I COSMIC NP NP 185 TCGA-66-2754-01 LUNG c.368C>A p.S123* COSMIC NP NP 186 TCGA-69-7979-01 LUNG c.426A>C p.A142A COSMIC NP NP 187 TCGA-69-7979-01 LUNG c.428G>T p.S143I COSMIC PASSENGER/OTHER Possibly Damaging 188 TCGA-73-4666-01 LUNG c.434C>A p.S145* COSMIC NP NP 189 TCGA-73-4668-01 LUNG c.2317G>T p.E773* COSMIC NP NP 190 TCGA-73-7499-01 LUNG c.2001G>A p.R667R COSMIC NP NP 191 TCGA-78-7147-01 LUNG c.2255A>T p.E752V COSMIC PASSENGER/OTHER Benign 192 TCGA-78-7154-01 LUNG c.1142G>A p.R381K COSMIC PASSENGER/OTHER Possibly Damaging 193 TCGA-78-7166-01 LUNG c.2478C>A p.H826Q COSMIC PASSENGER/OTHER Probably Damaging 194 TCGA-78-7536-01 LUNG c.1746C>T p.C582C COSMIC NP NP 195 TCGA-78-7542-01 LUNG c.2313A>T p.T771T COSMIC NP NP 196 TCGA-85-6175-01 LUNG c.1759C>A p.R587R COSMIC NP NP 197 TCGA-86-6851-01 LUNG c.129G>T p.M43I COSMIC PASSENGER/OTHER Possibly Damaging 198 TCGA-86-7713-01 LUNG c.763C>A p.Q255K COSMIC PASSENGER/OTHER Benign 199 TCGA-91-7771-01 LUNG c.27G>T p.E9D COSMIC PASSENGER/OTHER Benign 200 TCGA-93-7347-01 LUNG c.1970G>C p.R657T COSMIC PASSENGER/OTHER Benign 201 TCGA-95-7043-01 LUNG c.1501_1502GG>TT p.G501F COSMIC PASSENGER/OTHER Probably Damaging 202 TCGA-97-7554-01 LUNG c.2198C>A p.S733* COSMIC NP NP 203 TCGA-97-7938-01 LUNG c.1248C>A p.F416L COSMIC PASSENGER/OTHER Benign 204 TCGA-99-8028-01 LUNG c.782G>A p.W261* COSMIC NP NP 205 TCGA-99-8032-01 LUNG c.1782C>A p.V594V COSMIC NP NP 206 TCGA-99-8033-01 LUNG c.2496T>C p.Y832Y COSMIC NP NP 207 TCGA-A5-A0GD-01 ENDOMETRIUM c.2379T>A p.S793R COSMIC PASSENGER/OTHER Benign 208 TCGA-A5-A0GV-01 ENDOMETRIUM c.2358A>C p.R786S COSMIC PASSENGER/OTHER Benign 209 TCGA-A6-3810-01 LARGE INTESTINE c.2179C>T p.R727W COSMIC PASSENGER/OTHER Possibly Damaging 210 TCGA-A6-6782-01 LARGE INTESTINE c.726G>T p.L242L COSMIC NP NP 211 TCGA-AA-3492-01 LARGE INTESTINE c.2011C>T p.R671W COSMIC PASSENGER/OTHER Probably Damaging 212 TCGA-AA-3510-01 LARGE INTESTINE c.550C>T p.R184* COSMIC NP NP 213 TCGA-AA-3672-01 LARGE INTESTINE c.1759C>T p.R587W COSMIC PASSENGER/OTHER Benign 214 TCGA-AA-3712-01 LARGE INTESTINE c.2479A>G p.T827A COSMIC PASSENGER/OTHER Benign 215 TCGA-AA-3715-01 LARGE INTESTINE c.1290C>A p.P430P COSMIC NP NP 216 TCGA-AA-3715-01 LARGE INTESTINE c.306A>G p.K102K COSMIC NP NP 217 TCGA-AA-3831-01 LARGE INTESTINE c.1383A>T p.K461N COSMIC PASSENGER/OTHER Possibly Damaging 218 TCGA-AA-3845-01 LARGE INTESTINE c.2515C>T p.R839W COSMIC PASSENGER/OTHER Possibly Damaging 219 TCGA-AA-3864-01 LARGE INTESTINE c.2389A>G p.T797A COSMIC PASSENGER/OTHER Possibly Damaging 220 TCGA-AA-3866-01 LARGE INTESTINE c.1855C>T p.R619W COSMIC PASSENGER/OTHER Benign 221 TCGA-AA-3941-01 LARGE INTESTINE c.1424C>A p.A475D COSMIC PASSENGER/OTHER Probably Damaging 222 TCGA-AA-3947-01 LARGE INTESTINE c.2560C>T p.H854Y COSMIC PASSENGER/OTHER Possibly Damaging 223 TCGA-AA-3984-01 LARGE INTESTINE c.144A>C p.K48N COSMIC PASSENGER/OTHER Probably Damaging 224 TCGA-AA-3984-01 LARGE INTESTINE c.497G>T p.R166I COSMIC PASSENGER/OTHER Possibly Damaging 225 TCGA-AA-A010-01 LARGE INTESTINE c.1644G>T p.G548G COSMIC NP NP 226 TCGA-AA-A010-01 LARGE INTESTINE c.2338G>T p.E780* COSMIC NP NP 227 TCGA-AA-A010-01 LARGE INTESTINE c.394G>T p.E132* COSMIC NP NP 228 TCGA-AA-A010-01 LARGE INTESTINE c.537G>T p.K179N COSMIC PASSENGER/OTHER Benign 229 TCGA-AA-A01R-01 LARGE INTESTINE c.1372G>T p.E458* COSMIC NP NP 230 TCGA-AB-2832-03 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2233G>A p.E745K COSMIC PASSENGER/OTHER Probably Damaging 231 TCGA-AB-2859-03 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1589G>A p.G530E COSMIC PASSENGER/OTHER Probably Damaging 232 TCGA-AB-3005-03 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2295A>T p.R765S COSMIC PASSENGER/OTHER Benign 233 TCGA-AD-5900-01 LARGE INTESTINE c.2664C>T p.Y888Y COSMIC NP NP 234 TCGA-AD-6889-01 LARGE INTESTINE c.2264G>A p.R755Q COSMIC PASSENGER/OTHER Benign 235 TCGA-AD-6901-01 LARGE INTESTINE c.2665G>A p.V889I COSMIC PASSENGER/OTHER Benign 236 TCGA-AF-2693-01 LARGE INTESTINE c.931T>C p.S311P COSMIC PASSENGER/OTHER Possibly Damaging 237 TCGA-AG-3727-01 LARGE INTESTINE c.1790C>G p.T597S COSMIC PASSENGER/OTHER Benign 238 TCGA-AG-3892-01 LARGE INTESTINE c.1011G>A p.R337R COSMIC NP NP 239 TCGA-AG-3892-01 LARGE INTESTINE c.1387T>G p.L463V COSMIC PASSENGER/OTHER Benign 240 TCGA-AG-3892-01 LARGE INTESTINE c.900C>A p.N300K COSMIC PASSENGER/OTHER Benign 241 TCGA-AG-A002-01 LARGE INTESTINE c.1365G>T p.E455D COSMIC PASSENGER/OTHER Possibly Damaging 242 TCGA-AG-A01L-01 LARGE INTESTINE c.1843C>T p.R615W COSMIC PASSENGER/OTHER Probably Damaging 243 TCGA-AG-A02N-01 LARGE INTESTINE c.58C>T p.R20W COSMIC PASSENGER/OTHER Benign 244 TCGA-AP-A051-01 ENDOMETRIUM c.1890C>T p.H630H COSMIC NP NP 245 TCGA-AP-A051-01 ENDOMETRIUM c.249C>T p.L83L COSMIC NP NP 246 TCGA-AP-A056-01 ENDOMETRIUM c.1344T>C p.N448N COSMIC NP NP 247 TCGA-AP-A056-01 ENDOMETRIUM c.1413G>T p.E471D COSMIC PASSENGER/OTHER Benign 248 TCGA-AP-A056-01 ENDOMETRIUM c.280G>T p.E94* COSMIC NP NP 249 TCGA-AP-A059-01 ENDOMETRIUM c.2273G>A p.R758H COSMIC PASSENGER/OTHER Possibly Damaging 250 TCGA-AP-A0L8-01 ENDOMETRIUM c.1781T>A p.V594D COSMIC PASSENGER/OTHER Benign 251 TCGA-AP-A0LF-01 ENDOMETRIUM c.1364A>G p.E455G COSMIC PASSENGER/OTHER Possibly Damaging 252 TCGA-AP-A0LM-01 ENDOMETRIUM c.394G>C p.E132Q COSMIC PASSENGER/OTHER Benign 253 TCGA-AX-A05Z-01 ENDOMETRIUM c.1222G>A p.E408K COSMIC PASSENGER/OTHER Benign 254 TCGA-AX-A05Z-01 ENDOMETRIUM c.171C>A p.N57K COSMIC PASSENGER/OTHER Probably Damaging 255 TCGA-AX-A1CP-01 ENDOMETRIUM c.366G>A p.A122A COSMIC NP NP 256 TCGA-AY-6196-01 LARGE INTESTINE c.2095C>T p.R699W COSMIC PASSENGER/OTHER Probably Damaging 257 TCGA-AZ-4315-01 LARGE INTESTINE c.929A>C p.K310T COSMIC PASSENGER/OTHER Benign 258 TCGA-B0-5699-01 KIDNEY c.569C>A p.A190E COSMIC PASSENGER/OTHER Benign 259 TCGA-B0-5702-01 KIDNEY c.2275G>A p.D759N COSMIC PASSENGER/OTHER Possibly Damaging 260 TCGA-B5-A0JY-01 ENDOMETRIUM c.1284G>T p.E428D COSMIC PASSENGER/OTHER Possibly Damaging 261 TCGA-B5-A0JY-01 ENDOMETRIUM c.1686C>A p.S562R COSMIC PASSENGER/OTHER Benign 262 TCGA-B5-A0JY-01 ENDOMETRIUM c.2516G>A p.R839Q COSMIC PASSENGER/OTHER Possibly Damaging 263 TCGA-B5-A0K4-01 ENDOMETRIUM c.2564C>A p.T855K COSMIC PASSENGER/OTHER Possibly Damaging 264 TCGA-B5-A0K7-01 ENDOMETRIUM c.2379T>A p.S793R COSMIC PASSENGER/OTHER Benign 265 TCGA-B5-A11E-01 ENDOMETRIUM c.1631G>T p.R544M COSMIC PASSENGER/OTHER Probably Damaging 266 TCGA-B5-A11E-01 ENDOMETRIUM c.2319G>T p.E773D COSMIC PASSENGER/OTHER Benign 267 TCGA-B5-A11E-01 ENDOMETRIUM c.506T>C p.L169P COSMIC PASSENGER/OTHER Benign 268 TCGA-B5-A11E-01 ENDOMETRIUM c.907G>T p.E303* COSMIC NP NP 269 TCGA-B5-A11N-01 ENDOMETRIUM c.1843C>T p.R615W COSMIC PASSENGER/OTHER Probably Damaging 270 TCGA-B5-A11N-01 ENDOMETRIUM c.721A>G p.S241G COSMIC PASSENGER/OTHER Possibly Damaging 271 TCGA-BG-A0M3-01 ENDOMETRIUM c.2379T>A p.S793R COSMIC PASSENGER/OTHER Benign 272 TCGA-BG-A0M9-01 ENDOMETRIUM c.2496T>C p.Y832Y COSMIC NP NP 273 TCGA-BG-A0MI-01 ENDOMETRIUM c.835C>T p.R279* COSMIC NP NP 274 TCGA-BG-A0YV-01 ENDOMETRIUM c.1389G>A p.L463L COSMIC NP NP 275 TCGA-BS-A0TC-01 ENDOMETRIUM c.836G>A p.R279Q COSMIC PASSENGER/OTHER Benign 276 TCGA-BS-A0U7-01 ENDOMETRIUM c.1030T>C p.C344R COSMIC PASSENGER/OTHER Probably Damaging 277 TCGA-BS-A0UF-01 ENDOMETRIUM c.272C>A p.S91Y COSMIC PASSENGER/OTHER Probably Damaging 278 TCGA-BS-A0UF-01 ENDOMETRIUM c.415T>G p.L139V COSMIC PASSENGER/OTHER Benign 279 TCGA-BS-A0UF-01 ENDOMETRIUM c.95C>A p.S32Y COSMIC PASSENGER/OTHER Probably Damaging 280 TCGA-BS-A0UV-01 ENDOMETRIUM c.1034G>A p.R345Q COSMIC PASSENGER/OTHER Possibly Damaging 281 TCGA-BS-A0V6-01 ENDOMETRIUM c.2358A>C p.R786S COSMIC PASSENGER/OTHER Benign 282 TCGA-BS-A0V8-01 ENDOMETRIUM c.752C>G p.S251* COSMIC NP NP 283 TCGA-BS-A0WQ-01 ENDOMETRIUM c.889A>T p.K297* COSMIC NP NP 284 TCGA-BT-A20R-01 URINARY TRACT c.494C>G p.S165* COSMIC NP NP 285 TCGA-CA-6717-01 LARGE INTESTINE c.1340G>A p.R447H COSMIC PASSENGER/OTHER Possibly Damaging 286 TCGA-CA-6717-01 LARGE INTESTINE c.550C>T p.R184* COSMIC NP NP 287 TCGA-CA-6718-01 LARGE INTESTINE c.1075G>A p.D359N COSMIC PASSENGER/OTHER Probably Damaging 288 TCGA-CA-6718-01 LARGE INTESTINE c.2311A>G p.T771A COSMIC PASSENGER/OTHER Benign 289 TCGA-CH-5748-01 PROSTATE c.1790C>G p.T597S COSMIC PASSENGER/OTHER Benign 290 TCGA-CI-6624-01 LARGE INTESTINE c.2436C>G p.G812G COSMIC NP NP 291 TCGA-CK-5912-01 LARGE INTESTINE c.1125A>T p.K375N COSMIC PASSENGER/OTHER Possibly Damaging 292 TCGA-CK-5913-01 LARGE INTESTINE c.2077G>C p.V693L COSMIC PASSENGER/OTHER Possibly Damaging 293 TCGA-CK-6746-01 LARGE INTESTINE c.1468G>T p.G490* COSMIC NP NP 294 TCGA-CL-5917-01 LARGE INTESTINE c.2358A>C p.R786S COSMIC PASSENGER/OTHER Benign 295 TCGA-CM-5341-01 LARGE INTESTINE c.638T>C p.I213T COSMIC PASSENGER/OTHER Benign 296 TCGA-D1-A103-01 ENDOMETRIUM c.1242G>A p.Q414Q COSMIC NP NP 297 TCGA-D1-A103-01 ENDOMETRIUM c.551G>A p.R184Q COSMIC PASSENGER/OTHER Probably Damaging 298 TCGA-D1-A103-01 ENDOMETRIUM c.909G>T p.E303D COSMIC PASSENGER/OTHER Probably Damaging 299 TCGA-D1-A103-01 ENDOMETRIUM c.914T>A p.V305E COSMIC PASSENGER/OTHER Benign 300 TCGA-D1-A16Y-01 ENDOMETRIUM c.836G>A p.R279Q COSMIC PASSENGER/OTHER Benign 301 TCGA-D1-A17Q-01 ENDOMETRIUM c.1248C>A p.F416L COSMIC PASSENGER/OTHER Benign 302 TCGA-D1-A17Q-01 ENDOMETRIUM c.2235G>T p.E745D COSMIC PASSENGER/OTHER Probably Damaging 303 TCGA-D1-A17Q-01 ENDOMETRIUM c.553G>T p.E185* COSMIC NP NP 304 TCGA-D1-A17R-01 ENDOMETRIUM c.1758G>T p.G586G COSMIC NP NP 305 TCGA-D5-5539-01 LARGE INTESTINE c.1568A>G p.K523R COSMIC PASSENGER/OTHER Benign 306 TCGA-D5-6928-01 LARGE INTESTINE c.1402T>C p.W468R COSMIC PASSENGER/OTHER Benign 307 TCGA-DC-5869-01 LARGE INTESTINE c.2190C>A p.S730R COSMIC PASSENGER/OTHER Possibly Damaging 308 TCGA-DK-A1AC-01 URINARY TRACT c.627G>C p.Q209H COSMIC PASSENGER/OTHER Benign 309 TCGA-DK-A2I6-01 URINARY TRACT c.1488A>C p.E496D COSMIC PASSENGER/OTHER Probably Damaging 310 TCGA-DM-A28K-01 LARGE INTESTINE c.1315C>T p.Q439* COSMIC NP NP 311 TCGA-DS-A1OD-01 CERVIX c.1855C>T p.R619W COSMIC PASSENGER/OTHER Benign 312 TCGA-DY-A0XA-01 LARGE INTESTINE c.2479A>G p.T827A COSMIC PASSENGER/OTHER Benign 313 TCGA-EJ-7328-01 PROSTATE c.2496T>C p.Y832Y COSMIC NP NP 314 TCGA-EJ-7793-01 PROSTATE c.2496T>C p.Y832Y COSMIC NP NP 315 TCGA-EW-A1OY-01 BREAST c.2126C>G p.T709S COSMIC PASSENGER/OTHER Benign 316 TCGA-EW-A1PA-01 BREAST c.2075A>G p.Y692C COSMIC PASSENGER/OTHER Probably Damaging 317 TCGA-G2-A3IB-01 URINARY TRACT c.1886G>C p.R629T COSMIC PASSENGER/OTHER Benign 318 TCGA-G2-A3IE-01 URINARY TRACT c.1970G>C p.R657T COSMIC PASSENGER/OTHER Benign 319 TCGA-G4-6303-01 LARGE INTESTINE c.100T>C p.Y34H COSMIC PASSENGER/OTHER Probably Damaging 320 TCGA-G9-6362-01 PROSTATE c.1162C>T p.H388Y COSMIC PASSENGER/OTHER Benign 321 TCGA-G9-6362-01 PROSTATE c.1790C>G p.T597S COSMIC PASSENGER/OTHER Benign 322 TCGA-GV-A3QG-01 URINARY TRACT c.2496T>C p.Y832Y COSMIC NP NP 323 TCGA-GV-A3QI-01 URINARY TRACT c.2496T>C p.Y832Y COSMIC NP NP 324 TCGA-H4-A2HQ-01 URINARY TRACT c.1377G>A p.R459R COSMIC NP NP 325 cSCCP2 SKIN c.1453G>A p.G485R COSMIC PASSENGER/OTHER Benign 326 cSCCP6 SKIN c.850G>A p.E284K COSMIC PASSENGER/OTHER Benign 327 pfg016T STOMACH c.1713G>A p.Q571Q COSMIC NP NP 328 tumor_4163639 HAEMATOPOIETIC AND LYMPHOID TISSUE c.199A>G p.R67G COSMIC PASSENGER/OTHER Possibly 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.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 (+)
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Post Translational Modifications (+)
Post translational modifications are not found!!Other Databases Link (+)
