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: TAF1 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 769P KIDNEY c.3359A>C p.E1120A CCLE PASSENGER/OTHER Probably Damaging 2 A172 CENTRAL NERVOUS SYSTEM c.644C>T p.P215L CCLE NP NP 3 CAL51 BREAST c.3070G>A p.A1024T CCLE NP NP 4 CAL51 BREAST c.976T>C p.C326R CCLE NP NP 5 CHL1 SKIN c.247G>A p.A83T CCLE PASSENGER/OTHER Benign 6 CL34 LARGE INTESTINE c.4580C>T p.A1527V CCLE NP NP 7 CW2 LARGE INTESTINE c.3090A>C p.K1030N CCLE NP NP 8 CW2 LARGE INTESTINE c.4494T>C p.C1498C CCLE NP NP 9 CW2 LARGE INTESTINE c.5204A>C p.E1735A CCLE NP NP 10 EN ENDOMETRIUM c.2486A>G p.Q829R CCLE NP NP 11 ESS1 ENDOMETRIUM c.2591G>A p.R864Q CCLE NP NP 12 ESS1 ENDOMETRIUM c.504G>T p.K168N CCLE PASSENGER/OTHER Possibly Damaging 13 EVSAT BREAST c.2107G>C p.E703Q CCLE NP NP 14 EVSAT BREAST c.3125C>G p.S1042C CCLE NP NP 15 GP2D LARGE INTESTINE c.4780A>G p.N1594D CCLE NP NP 16 GSU STOMACH c.4031T>C p.I1344T CCLE NP NP 17 HCC1395 BREAST c.1041_1046delAGATAT p.DI348del CCLE NP NP 18 HCC202 BREAST c.2600T>G p.L867R CCLE NP NP 19 HCC2935 LUNG c.889_890insAGG p.298_299insE CCLE NP NP 20 HEC151 ENDOMETRIUM c.1832A>G p.Q611R CCLE NP NP 21 HEC1B ENDOMETRIUM c.2116G>A p.E706K CCLE NP NP 22 HEC1B ENDOMETRIUM c.91G>A p.A31T CCLE PASSENGER/OTHER Benign 23 HEC251 ENDOMETRIUM c.3377A>C p.E1126A CCLE NP NP 24 HEC265 ENDOMETRIUM c.3233A>C p.E1078A CCLE NP NP 25 HEC59 ENDOMETRIUM c.94G>A p.G32R CCLE PASSENGER/OTHER Benign 26 HMCB SKIN c.3683G>A p.R1228Q CCLE NP Probably Damaging 27 HSC4 UPPER AERODIGESTIVE TRACT c.988G>A p.D330N CCLE NP NP 28 HUH7 LIVER c.551G>T p.G184V CCLE NP NP 29 IMR32 AUTONOMIC GANGLIA c.5219C>A p.S1740Y CCLE NP NP 30 JHH1 LIVER c.4561G>T p.D1521Y CCLE NP NP 31 JHUEM1 ENDOMETRIUM c.3128G>A p.R1043H CCLE NP NP 32 JHUEM1 ENDOMETRIUM c.3960G>T p.Q1320H CCLE NP NP 33 JHUEM7 ENDOMETRIUM c.4734C>A p.I1578I CCLE NP NP 34 JHUEM7 ENDOMETRIUM c.665A>C p.E222A CCLE NP NP 35 KLE ENDOMETRIUM c.2039G>T p.G680V CCLE NP NP 36 KNS62 LUNG c.3053G>A p.R1018H CCLE NP NP 37 KP3 PANCREAS c.3086G>A p.R1029H CCLE NP NP 38 KYSE150 OESOPHAGUS c.3128G>A p.R1043H CCLE NP NP 39 LS411N LARGE INTESTINE c.5282_splice p.A1761_splice CCLE NP NP 40 MDAMB435S SKIN c.5027C>T p.S1676F CCLE NP NP 41 MOLT13 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2609G>A p.C870Y CCLE NP NP 42 NALM19 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4612C>G p.Q1538E CCLE NP NP 43 NB1 AUTONOMIC GANGLIA c.3734G>A p.R1245Q CCLE NP NP 44 NCIH1339 LUNG c.1506G>T p.E502D CCLE NP NP 45 NCIH1836 LUNG c.889_890insAGG p.298_299insE CCLE NP NP 46 NCIH2228 LUNG c.3509A>G p.D1170G CCLE NP NP 47 NCIH2342 LUNG c.1337G>T p.G446V CCLE NP NP 48 NCIH69 LUNG c.3730G>A p.E1244K CCLE NP Benign 49 OCILY10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2956T>G p.Y986D CCLE NP NP 50 OVK18 OVARY c.5006A>T p.D1669V CCLE NP NP 51 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1913G>A p.R638H CCLE NP NP 52 PK45H PANCREAS c.1028C>T p.S343F CCLE NP NP 53 RKO LARGE INTESTINE c.1993_1993delA p.K665fs CCLE NP NP 54 RMUGS OVARY c.4581G>A p.A1527A CCLE NP NP 55 SKMEL24 SKIN c.1949C>T p.S650F CCLE NP NP 56 SNU1 STOMACH c.1397C>T p.A466V CCLE NP NP 57 SNU407 LARGE INTESTINE c.3862T>C p.C1288R CCLE NP NP 58 SNU520 STOMACH c.2553_2553delA p.I851fs CCLE NP NP 59 SNU685 ENDOMETRIUM c.3260G>T p.C1087F CCLE NP NP 60 SNUC2A LARGE INTESTINE c.3650G>A p.R1217H CCLE PASSENGER/OTHER Probably Damaging 61 SUPB15 HAEMATOPOIETIC AND LYMPHOID TISSUE c.203G>A p.G68D CCLE PASSENGER/OTHER Probably Damaging 62 SW403 LARGE INTESTINE c.2846G>A p.R949H CCLE NP NP 63 SW403 LARGE INTESTINE c.491G>A p.G164E CCLE PASSENGER/OTHER Benign 64 TEN ENDOMETRIUM c.4437C>T p.T1479T CCLE NP NP 65 TGBC11TKB STOMACH c.4532G>A p.R1511H CCLE NP NP 66 TOLEDO HAEMATOPOIETIC AND LYMPHOID TISSUE c.4062G>A p.A1354A CCLE NP NP 67 TOV21G OVARY c.3362T>C p.M1121T CCLE NP NP 68 YD15 SALIVARY GLAND c.4225A>G p.I1409V CCLE NP Probably Damaging 69 05-11328 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3140T>C p.F1047S COSMIC PASSENGER/OTHER Probably Damaging 70 09-09 LARGE INTESTINE c.3674G>A p.R1225Q COSMIC PASSENGER/OTHER Probably Damaging 71 2334191 LUNG c.4808C>G p.T1603R COSMIC PASSENGER/OTHER Probably Damaging 72 585208 LUNG c.4036C>G p.P1346A COSMIC PASSENGER/OTHER Possibly Damaging 73 585276 LUNG c.5536C>T p.Q1846* COSMIC NP NP 74 587224 LARGE INTESTINE c.4277A>G p.D1426G COSMIC PASSENGER/OTHER Probably Damaging 75 587276 LARGE INTESTINE c.4505A>C p.D1502A COSMIC PASSENGER/OTHER Probably Damaging 76 587282 LARGE INTESTINE c.5527G>A p.V1843I COSMIC PASSENGER/OTHER Probably Damaging 77 587342 LARGE INTESTINE c.2012T>C p.L671P COSMIC CANCER Probably Damaging 78 587376 LARGE INTESTINE c.365G>A p.R122Q COSMIC PASSENGER/OTHER Possibly Damaging 79 587398 LARGE INTESTINE c.380C>T p.T127M COSMIC PASSENGER/OTHER Possibly Damaging 80 B8 KIDNEY c.339C>T p.I113I COSMIC NP NP 81 BB15T BREAST c.4877delT p.L1626fs*6 COSMIC NP NP 82 CCRF-CEM HAEMATOPOIETIC AND LYMPHOID TISSUE c.10G>A p.G4S COSMIC PASSENGER/OTHER Benign 83 CLL013 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1736G>T p.G579V COSMIC PASSENGER/OTHER Possibly Damaging 84 DLBCL-PatientM HAEMATOPOIETIC AND LYMPHOID TISSUE c.2999T>C p.L1000P COSMIC PASSENGER/OTHER Probably Damaging 85 ESO-0071 OESOPHAGUS c.3890A>T p.E1297V COSMIC PASSENGER/OTHER Possibly Damaging 86 ESO-037 OESOPHAGUS c.4303C>T p.R1435C COSMIC PASSENGER/OTHER Probably Damaging 87 HCC107T LIVER c.3392G>A p.R1131Q COSMIC PASSENGER/OTHER Probably Damaging 88 HCC1395 BREAST c.983_988delTAGATA p.I328_K330>K COSMIC NP NP 89 HCC18T LIVER c.1684A>T p.K562* COSMIC NP NP 90 HCC37T LIVER c.2796G>T p.W932C COSMIC CANCER Probably Damaging 91 HCC72T LIVER c.226A>G p.S76G COSMIC PASSENGER/OTHER Benign 92 HN_62671 UPPER AERODIGESTIVE TRACT c.3561A>G p.K1187K COSMIC NP NP 93 HX17T LIVER c.5408A>G p.Y1803C COSMIC PASSENGER/OTHER Benign 94 ICGC_MB2 CENTRAL NERVOUS SYSTEM c.5221A>G p.I1741V COSMIC PASSENGER/OTHER Benign 95 LC_S34 LUNG c.3580T>G p.Y1194D COSMIC PASSENGER/OTHER Probably Damaging 96 LPJ108 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5174A>C p.E1725A COSMIC PASSENGER/OTHER Possibly Damaging 97 LUAD-B00859 LUNG c.2023G>T p.D675Y COSMIC CANCER Probably Damaging 98 LUAD-B02077 LUNG c.5351G>T p.G1784V COSMIC PASSENGER/OTHER Probably Damaging 99 LUAD-F00368 LUNG c.2011C>A p.L671I COSMIC CANCER Probably Damaging 100 LUAD-NYU1027 LUNG c.4324C>T p.R1442W COSMIC PASSENGER/OTHER Probably Damaging 101 LUAD-NYU627 LUNG c.356A>T p.D119V COSMIC PASSENGER/OTHER Possibly Damaging 102 LUAD-NYU704 LUNG c.3824C>A p.T1275N COSMIC PASSENGER/OTHER Probably Damaging 103 LUAD-NYU847 LUNG c.4154T>A p.L1385Q COSMIC PASSENGER/OTHER Probably Damaging 104 LUAD-RT-S01702 LUNG c.882C>T p.Y294Y COSMIC NP NP 105 LUAD-RT-S01709 LUNG c.4942G>T p.D1648Y COSMIC PASSENGER/OTHER Probably Damaging 106 LUAD-S01356 LUNG c.3064C>T p.R1022C COSMIC PASSENGER/OTHER Probably Damaging 107 LUAD-S01409 LUNG c.3123G>C p.E1041D COSMIC PASSENGER/OTHER Benign 108 LUAD-S01409 LUNG c.3126G>T p.G1042G COSMIC NP NP 109 LUAD-YINHD LUNG c.3705G>A p.K1235K COSMIC NP NP 110 MB_Exm702 CENTRAL NERVOUS SYSTEM c.3203G>A p.R1068H COSMIC PASSENGER/OTHER Probably Damaging 111 ME016T SKIN c.2527C>T p.R843W COSMIC CANCER Probably Damaging 112 ME029T SKIN c.4645G>A p.D1549N COSMIC PASSENGER/OTHER Probably Damaging 113 MZ7-mel SKIN c.1951G>A p.E651K COSMIC PASSENGER/OTHER Probably Damaging 114 NB-1263 AUTONOMIC GANGLIA c.86A>G p.D29G COSMIC PASSENGER/OTHER Benign 115 NB04C AUTONOMIC GANGLIA c.378G>T p.Q126H COSMIC PASSENGER/OTHER Probably Damaging 116 OCC06PT OVARY c.4523C>T p.S1508F COSMIC PASSENGER/OTHER Probably Damaging 117 OCC06PT OVARY c.4531C>G p.L1511V COSMIC PASSENGER/OTHER Possibly Damaging 118 OV207 OVARY c.2560C>T p.R854C COSMIC PASSENGER/OTHER Probably Damaging 119 PCSI0002 PANCREAS c.1363_1364insC p.A456fs*4 COSMIC NP NP 120 PD0252a LUNG c.2073G>A p.M691I COSMIC PASSENGER/OTHER Benign 121 PD1519a LARGE INTESTINE c.1937delA p.K646fs*4 COSMIC NP NP 122 PD1522a LARGE INTESTINE c.1358G>A p.G453D COSMIC PASSENGER/OTHER Benign 123 PD4004a BREAST c.4577G>T p.W1526L COSMIC PASSENGER/OTHER Probably Damaging 124 PD4100a BREAST c.569C>A p.S190Y COSMIC PASSENGER/OTHER Probably Damaging 125 PD4107a BREAST c.2062G>T p.G688* COSMIC NP NP 126 PD4136a BREAST c.4538A>T p.N1513I COSMIC PASSENGER/OTHER Probably Damaging 127 PR-03-1026 PROSTATE c.5015C>A p.S1672Y COSMIC PASSENGER/OTHER Probably Damaging 128 PR-2915 PROSTATE c.3064C>G p.R1022G COSMIC PASSENGER/OTHER Probably Damaging 129 S00501 LUNG c.12C>A p.G4G COSMIC NP NP 130 S00830 LUNG c.4324_4325insG p.E1443fs*14 COSMIC NP NP 131 S00936 LUNG c.4517C>T p.A1506V COSMIC PASSENGER/OTHER Probably Damaging 132 S00943 LUNG c.1167G>A p.E389E COSMIC NP NP 133 S00946 LUNG c.3881C>T p.A1294V COSMIC PASSENGER/OTHER Possibly Damaging 134 SA074 BREAST c.4186A>G p.M1396V COSMIC PASSENGER/OTHER Benign 135 SA083 BREAST c.488C>T p.P163L COSMIC PASSENGER/OTHER Benign 136 TCGA-04-1343-01 OVARY c.1877G>A p.G626D COSMIC PASSENGER/OTHER Probably Damaging 137 TCGA-06-0176-01 CENTRAL NERVOUS SYSTEM c.4898G>C p.S1633T COSMIC PASSENGER/OTHER Benign 138 TCGA-06-0213-01 CENTRAL NERVOUS SYSTEM c.218G>A p.G73E COSMIC PASSENGER/OTHER Probably Damaging 139 TCGA-13-0890-01 OVARY c.4248C>G p.D1416E COSMIC PASSENGER/OTHER Possibly Damaging 140 TCGA-13-0900-01 OVARY c.5150T>G p.L1717R COSMIC PASSENGER/OTHER Probably Damaging 141 TCGA-13-1482-01 OVARY c.5199A>C p.E1733D COSMIC PASSENGER/OTHER Possibly Damaging 142 TCGA-21-1070-01 LUNG c.3127C>T p.P1043S COSMIC PASSENGER/OTHER Benign 143 TCGA-21-5782-01 LUNG c.1954C>G p.Q652E COSMIC PASSENGER/OTHER Possibly Damaging 144 TCGA-21-5782-01 LUNG c.3837C>G p.C1279W COSMIC CANCER Probably Damaging 145 TCGA-22-4591-01 LUNG c.2854G>A p.G952R COSMIC CANCER Probably Damaging 146 TCGA-22-4607-01 LUNG c.2032C>G p.L678V COSMIC PASSENGER/OTHER Possibly Damaging 147 TCGA-22-4613-01 LUNG c.736G>T p.G246* COSMIC NP NP 148 TCGA-23-2643-01 OVARY c.2583G>A p.W861* COSMIC NP NP 149 TCGA-23-2643-01 OVARY c.3319A>C p.M1107L COSMIC PASSENGER/OTHER Benign 150 TCGA-24-0975-01 OVARY c.956C>G p.S319C COSMIC PASSENGER/OTHER Probably Damaging 151 TCGA-24-1546-01 OVARY c.1372C>G p.L458V COSMIC PASSENGER/OTHER Benign 152 TCGA-34-5234-01 LUNG c.4761T>A p.S1587R COSMIC PASSENGER/OTHER Probably Damaging 153 TCGA-34-5929-01 LUNG c.1841A>C p.Q614P COSMIC PASSENGER/OTHER Possibly Damaging 154 TCGA-39-5036-01 LUNG c.1178G>A p.G393D COSMIC PASSENGER/OTHER Benign 155 TCGA-43-2578-01 LUNG c.1946T>C p.M649T COSMIC PASSENGER/OTHER Benign 156 TCGA-43-3920-01 LUNG c.4990G>T p.V1664L COSMIC PASSENGER/OTHER Benign 157 TCGA-44-3918-01 LUNG c.797A>C p.H266P COSMIC PASSENGER/OTHER Benign 158 TCGA-44-8119-01 LUNG c.5415G>A p.E1805E COSMIC NP NP 159 TCGA-49-6767-01 LUNG c.4291C>A p.R1431S COSMIC PASSENGER/OTHER Probably Damaging 160 TCGA-50-6594-01 LUNG c.3353C>T p.S1118L COSMIC PASSENGER/OTHER Probably Damaging 161 TCGA-55-7910-01 LUNG c.1165G>T p.E389* COSMIC NP NP 162 TCGA-55-7910-01 LUNG c.2647G>T p.E883* COSMIC NP NP 163 TCGA-60-2722-01 LUNG c.728G>A p.R243H COSMIC PASSENGER/OTHER Benign 164 TCGA-66-2785-01 LUNG c.1417G>A p.E473K COSMIC PASSENGER/OTHER Possibly Damaging 165 TCGA-66-2795-01 LUNG c.2878G>T p.G960C COSMIC CANCER Probably Damaging 166 TCGA-66-2795-01 LUNG c.2879G>T p.G960V COSMIC CANCER Probably Damaging 167 TCGA-69-7979-01 LUNG c.7C>A p.P3T COSMIC PASSENGER/OTHER Benign 168 TCGA-71-6725-01 LUNG c.3253A>G p.T1085A COSMIC PASSENGER/OTHER Probably Damaging 169 TCGA-75-6207-01 LUNG c.969A>G p.Q323Q COSMIC NP NP 170 TCGA-80-5608-01 LUNG c.532G>T p.E178* COSMIC NP NP 171 TCGA-A3-3380-01 KIDNEY c.3998C>T p.A1333V COSMIC PASSENGER/OTHER Possibly Damaging 172 TCGA-A5-A0G9-01 ENDOMETRIUM c.3197G>T p.C1066F COSMIC PASSENGER/OTHER Probably Damaging 173 TCGA-A5-A0G9-01 ENDOMETRIUM c.3348G>T p.Q1116H COSMIC PASSENGER/OTHER Probably Damaging 174 TCGA-A5-A0GB-01 ENDOMETRIUM c.1024C>T p.R342C COSMIC PASSENGER/OTHER Probably Damaging 175 TCGA-A5-A0VP-01 ENDOMETRIUM c.2560C>T p.R854C COSMIC PASSENGER/OTHER Probably Damaging 176 TCGA-A6-2683-01 LARGE INTESTINE c.718C>T p.R240C COSMIC PASSENGER/OTHER Possibly Damaging 177 TCGA-A6-5657-01 LARGE INTESTINE c.1952A>G p.E651G COSMIC PASSENGER/OTHER Probably Damaging 178 TCGA-A6-5657-01 LARGE INTESTINE c.5122C>A p.Q1708K COSMIC PASSENGER/OTHER Benign 179 TCGA-A6-5657-01 LARGE INTESTINE c.5198A>G p.E1733G COSMIC PASSENGER/OTHER Probably Damaging 180 TCGA-A6-5665-01 LARGE INTESTINE c.3202C>T p.R1068C COSMIC PASSENGER/OTHER Probably Damaging 181 TCGA-AA-3697-01 LARGE INTESTINE c.5197G>A p.E1733K COSMIC PASSENGER/OTHER Possibly Damaging 182 TCGA-AA-3715-01 LARGE INTESTINE c.5118G>A p.Q1706Q COSMIC NP NP 183 TCGA-AA-3864-01 LARGE INTESTINE c.5522C>T p.P1841L COSMIC PASSENGER/OTHER Probably Damaging 184 TCGA-AA-3950-01 LARGE INTESTINE c.1410T>C p.I470I COSMIC NP NP 185 TCGA-AA-3977-01 LARGE INTESTINE c.1024C>T p.R342C COSMIC PASSENGER/OTHER Probably Damaging 186 TCGA-AA-A00N-01 LARGE INTESTINE c.2494A>C p.K832Q COSMIC PASSENGER/OTHER Possibly Damaging 187 TCGA-AA-A00N-01 LARGE INTESTINE c.3662G>A p.R1221Q COSMIC PASSENGER/OTHER Probably Damaging 188 TCGA-AA-A010-01 LARGE INTESTINE c.5054T>G p.V1685G COSMIC PASSENGER/OTHER Benign 189 TCGA-AA-A01R-01 LARGE INTESTINE c.2403G>A p.T801T COSMIC NP NP 190 TCGA-AA-A03F-01 LARGE INTESTINE c.1272A>T p.K424N COSMIC PASSENGER/OTHER Probably Damaging 191 TCGA-AG-3892-01 LARGE INTESTINE c.3515G>A p.R1172Q COSMIC PASSENGER/OTHER Benign 192 TCGA-AG-4001-01 LARGE INTESTINE c.530G>A p.G177D COSMIC PASSENGER/OTHER Benign 193 TCGA-AG-A002-01 LARGE INTESTINE c.2038C>A p.L680I COSMIC CANCER Probably Damaging 194 TCGA-AG-A002-01 LARGE INTESTINE c.2477G>A p.R826Q COSMIC PASSENGER/OTHER Probably Damaging 195 TCGA-AG-A002-01 LARGE INTESTINE c.3376C>T p.R1126W COSMIC PASSENGER/OTHER Probably Damaging 196 TCGA-AN-A0AS-01 BREAST c.4111C>T p.H1371Y COSMIC PASSENGER/OTHER Possibly Damaging 197 TCGA-AN-A0XN-01 BREAST c.2327T>G p.L776* COSMIC NP NP 198 TCGA-AO-A124-01 BREAST c.2132A>G p.D711G COSMIC CANCER Probably Damaging 199 TCGA-AO-A12F-01 BREAST c.2635A>G p.M879V COSMIC PASSENGER/OTHER Benign 200 TCGA-AP-A056-01 ENDOMETRIUM c.1616G>A p.R539Q COSMIC PASSENGER/OTHER Possibly Damaging 201 TCGA-AP-A056-01 ENDOMETRIUM c.2548G>A p.A850T COSMIC PASSENGER/OTHER Probably Damaging 202 TCGA-AP-A056-01 ENDOMETRIUM c.3940G>T p.E1314* COSMIC NP NP 203 TCGA-AP-A056-01 ENDOMETRIUM c.5100G>T p.E1700D COSMIC PASSENGER/OTHER Benign 204 TCGA-AP-A059-01 ENDOMETRIUM c.1997G>A p.R666H COSMIC PASSENGER/OTHER Probably Damaging 205 TCGA-AP-A059-01 ENDOMETRIUM c.2605C>T p.R869C COSMIC PASSENGER/OTHER Probably Damaging 206 TCGA-AP-A059-01 ENDOMETRIUM c.3650G>A p.R1217Q COSMIC PASSENGER/OTHER Possibly Damaging 207 TCGA-AP-A059-01 ENDOMETRIUM c.889G>A p.A297T COSMIC PASSENGER/OTHER Probably Damaging 208 TCGA-AP-A0LE-01 ENDOMETRIUM c.2527C>T p.R843W COSMIC CANCER Probably Damaging 209 TCGA-AP-A0LM-01 ENDOMETRIUM c.1312C>T p.P438S COSMIC PASSENGER/OTHER Possibly Damaging 210 TCGA-AP-A0LM-01 ENDOMETRIUM c.1436G>A p.R479H COSMIC PASSENGER/OTHER Probably Damaging 211 TCGA-AP-A0LM-01 ENDOMETRIUM c.2616G>A p.T872T COSMIC NP NP 212 TCGA-AP-A0LM-01 ENDOMETRIUM c.334G>T p.D112Y COSMIC PASSENGER/OTHER Probably Damaging 213 TCGA-AP-A0LM-01 ENDOMETRIUM c.3544T>C p.C1182R COSMIC CANCER Benign 214 TCGA-AP-A0LM-01 ENDOMETRIUM c.3661C>T p.R1221* COSMIC NP NP 215 TCGA-AP-A0LT-01 ENDOMETRIUM c.3113G>C p.R1038P COSMIC PASSENGER/OTHER Probably Damaging 216 TCGA-AR-A1AL-01 BREAST c.1753G>A p.G585R COSMIC PASSENGER/OTHER Possibly Damaging 217 TCGA-AX-A05S-01 ENDOMETRIUM c.5544C>A p.H1848Q COSMIC PASSENGER/OTHER Benign 218 TCGA-AX-A05Z-01 ENDOMETRIUM c.2899A>G p.K967E COSMIC PASSENGER/OTHER Probably Damaging 219 TCGA-AX-A060-01 ENDOMETRIUM c.2352G>A p.Q784Q COSMIC NP NP 220 TCGA-AX-A060-01 ENDOMETRIUM c.2528G>A p.R843Q COSMIC CANCER Probably Damaging 221 TCGA-AX-A060-01 ENDOMETRIUM c.3488G>A p.R1163H COSMIC PASSENGER/OTHER Benign 222 TCGA-AX-A063-01 ENDOMETRIUM c.1610A>G p.K537R COSMIC PASSENGER/OTHER Possibly Damaging 223 TCGA-AX-A063-01 ENDOMETRIUM c.472C>T p.P158S COSMIC PASSENGER/OTHER Benign 224 TCGA-AX-A064-01 ENDOMETRIUM c.2235C>G p.N745K COSMIC PASSENGER/OTHER Probably Damaging 225 TCGA-AX-A06H-01 ENDOMETRIUM c.670C>T p.P224S COSMIC PASSENGER/OTHER Possibly Damaging 226 TCGA-AX-A0J0-01 ENDOMETRIUM c.1616G>A p.R539Q COSMIC PASSENGER/OTHER Possibly Damaging 227 TCGA-AX-A0J0-01 ENDOMETRIUM c.256G>T p.E86* COSMIC NP NP 228 TCGA-AX-A0J0-01 ENDOMETRIUM c.3707G>T p.R1236M COSMIC PASSENGER/OTHER Probably Damaging 229 TCGA-AX-A0J0-01 ENDOMETRIUM c.3944T>G p.L1315R COSMIC PASSENGER/OTHER Probably Damaging 230 TCGA-AX-A0J0-01 ENDOMETRIUM c.5332A>C p.S1778R COSMIC PASSENGER/OTHER Probably Damaging 231 TCGA-AX-A0J1-01 ENDOMETRIUM c.1042C>T p.L348L COSMIC NP NP 232 TCGA-AX-A0J1-01 ENDOMETRIUM c.3203G>A p.R1068H COSMIC PASSENGER/OTHER Probably Damaging 233 TCGA-AZ-4315-01 LARGE INTESTINE c.3088C>T p.R1030C COSMIC PASSENGER/OTHER Probably Damaging 234 TCGA-AZ-6601-01 LARGE INTESTINE c.1374T>C p.L458L COSMIC NP NP 235 TCGA-B0-4818-01 KIDNEY c.2606G>A p.R869H COSMIC PASSENGER/OTHER Probably Damaging 236 TCGA-B0-4842-01 KIDNEY c.3146G>A p.R1049H COSMIC PASSENGER/OTHER Probably Damaging 237 TCGA-B5-A0JR-01 ENDOMETRIUM c.3542G>A p.R1181H COSMIC PASSENGER/OTHER Probably Damaging 238 TCGA-B5-A0JY-01 ENDOMETRIUM c.1463C>T p.A488V COSMIC PASSENGER/OTHER Benign 239 TCGA-B5-A0JY-01 ENDOMETRIUM c.2286C>A p.F762L COSMIC CANCER Probably Damaging 240 TCGA-B5-A0JY-01 ENDOMETRIUM c.3662G>A p.R1221Q COSMIC PASSENGER/OTHER Probably Damaging 241 TCGA-B5-A0K2-01 ENDOMETRIUM c.2527C>T p.R843W COSMIC CANCER Probably Damaging 242 TCGA-B5-A0K3-01 ENDOMETRIUM c.3678G>T p.R1226S COSMIC PASSENGER/OTHER Probably Damaging 243 TCGA-B5-A11E-01 ENDOMETRIUM c.2508C>A p.S836S COSMIC NP NP 244 TCGA-B5-A11E-01 ENDOMETRIUM c.4937C>A p.P1646H COSMIC PASSENGER/OTHER Probably Damaging 245 TCGA-B5-A11I-01 ENDOMETRIUM c.2053G>A p.E685K COSMIC PASSENGER/OTHER Probably Damaging 246 TCGA-B5-A11N-01 ENDOMETRIUM c.368G>T p.R123I COSMIC PASSENGER/OTHER Benign 247 TCGA-B5-A11O-01 ENDOMETRIUM c.2271G>T p.M757I COSMIC PASSENGER/OTHER Benign 248 TCGA-BG-A0MG-01 ENDOMETRIUM c.1680A>T p.E560D COSMIC PASSENGER/OTHER Benign 249 TCGA-BG-A0MO-01 ENDOMETRIUM c.3698G>A p.R1233Q COSMIC PASSENGER/OTHER Probably Damaging 250 TCGA-BH-A0DZ-01 BREAST c.5557G>A p.E1853K COSMIC PASSENGER/OTHER Benign 251 TCGA-BH-A0HP-01 BREAST c.2411G>A p.R804Q COSMIC PASSENGER/OTHER Probably Damaging 252 TCGA-BH-A0W4-01 BREAST c.1312C>T p.P438S COSMIC PASSENGER/OTHER Possibly Damaging 253 TCGA-BS-A0TJ-01 ENDOMETRIUM c.3535T>C p.Y1179H COSMIC PASSENGER/OTHER Possibly Damaging 254 TCGA-BS-A0U8-01 ENDOMETRIUM c.1094G>A p.G365D COSMIC PASSENGER/OTHER Probably Damaging 255 TCGA-BS-A0UF-01 ENDOMETRIUM c.1124C>A p.P375H COSMIC PASSENGER/OTHER Possibly Damaging 256 TCGA-BS-A0UF-01 ENDOMETRIUM c.1918C>A p.L640I COSMIC PASSENGER/OTHER Benign 257 TCGA-BS-A0UF-01 ENDOMETRIUM c.2620G>T p.E874* COSMIC NP NP 258 TCGA-BS-A0UF-01 ENDOMETRIUM c.3694A>G p.R1232G COSMIC PASSENGER/OTHER Probably Damaging 259 TCGA-BS-A0UV-01 ENDOMETRIUM c.1988T>G p.F663C COSMIC PASSENGER/OTHER Probably Damaging 260 TCGA-C4-A0F6-01 URINARY TRACT c.2462G>A p.R821Q COSMIC PASSENGER/OTHER Possibly Damaging 261 TCGA-CA-6717-01 LARGE INTESTINE c.2990G>A p.R997H COSMIC PASSENGER/OTHER Probably Damaging 262 TCGA-CA-6717-01 LARGE INTESTINE c.3989T>G p.I1330S COSMIC PASSENGER/OTHER Possibly Damaging 263 TCGA-CA-6718-01 LARGE INTESTINE c.2097G>T p.K699N COSMIC PASSENGER/OTHER Probably Damaging 264 TCGA-CF-A1HS-01 URINARY TRACT c.1417G>C p.E473Q COSMIC PASSENGER/OTHER Probably Damaging 265 TCGA-CJ-5672-01 KIDNEY c.2078A>G p.Q693R COSMIC PASSENGER/OTHER Probably Damaging 266 TCGA-CJ-5686-01 KIDNEY c.1566T>C p.S522S COSMIC NP NP 267 TCGA-CK-4947-01 LARGE INTESTINE c.1878T>C p.G626G COSMIC NP NP 268 TCGA-CK-4947-01 LARGE INTESTINE c.5199A>G p.E1733E COSMIC NP NP 269 TCGA-CM-5344-01 LARGE INTESTINE c.1953A>G p.E651E COSMIC NP NP 270 TCGA-CM-5349-01 LARGE INTESTINE c.1373T>C p.L458P COSMIC PASSENGER/OTHER Benign 271 TCGA-CM-5862-01 LARGE INTESTINE c.1952A>G p.E651G COSMIC PASSENGER/OTHER Probably Damaging 272 TCGA-CM-6166-01 LARGE INTESTINE c.1876G>T p.G626C COSMIC PASSENGER/OTHER Probably Damaging 273 TCGA-CM-6168-01 LARGE INTESTINE c.1878T>C p.G626G COSMIC NP NP 274 TCGA-CM-6171-01 LARGE INTESTINE c.5199A>G p.E1733E COSMIC NP NP 275 TCGA-CM-6676-01 LARGE INTESTINE c.4247A>G p.D1416G COSMIC PASSENGER/OTHER Possibly Damaging 276 TCGA-CZ-5466-01 KIDNEY c.2986C>T p.R996C COSMIC PASSENGER/OTHER Probably Damaging 277 TCGA-CZ-5470-01 KIDNEY c.2359C>T p.P787S COSMIC CANCER Possibly Damaging 278 TCGA-D1-A0ZN-01 ENDOMETRIUM c.1772A>G p.H591R COSMIC CANCER Probably Damaging 279 TCGA-D1-A103-01 ENDOMETRIUM c.124C>A p.L42I COSMIC PASSENGER/OTHER Probably Damaging 280 TCGA-D1-A16X-01 ENDOMETRIUM c.2003C>T p.P668L COSMIC PASSENGER/OTHER Benign 281 TCGA-D1-A16Y-01 ENDOMETRIUM c.2986C>T p.R996C COSMIC PASSENGER/OTHER Probably Damaging 282 TCGA-D1-A16Y-01 ENDOMETRIUM c.458G>T p.C153F COSMIC PASSENGER/OTHER Benign 283 TCGA-D1-A174-01 ENDOMETRIUM c.2850G>T p.V950V COSMIC NP NP 284 TCGA-D1-A176-01 ENDOMETRIUM c.4475A>G p.E1492G COSMIC PASSENGER/OTHER Probably Damaging 285 TCGA-D1-A177-01 ENDOMETRIUM c.2528G>A p.R843Q COSMIC CANCER Probably Damaging 286 TCGA-D1-A17A-01 ENDOMETRIUM c.3376C>T p.R1126W COSMIC PASSENGER/OTHER Probably Damaging 287 TCGA-D1-A17Q-01 ENDOMETRIUM c.3026A>C p.K1009T COSMIC PASSENGER/OTHER Benign 288 TCGA-D1-A1NU-01 ENDOMETRIUM c.3505C>T p.R1169C COSMIC PASSENGER/OTHER Probably Damaging 289 TCGA-D5-6532-01 LARGE INTESTINE c.1374T>C p.L458L COSMIC NP NP 290 TCGA-D5-6534-01 LARGE INTESTINE c.5199A>G p.E1733E COSMIC NP NP 291 TCGA-D5-6922-01 LARGE INTESTINE c.1876G>T p.G626C COSMIC PASSENGER/OTHER Probably Damaging 292 TCGA-D5-6928-01 LARGE INTESTINE c.4127G>A p.R1376Q COSMIC PASSENGER/OTHER Probably Damaging 293 TCGA-D8-A1XC-01 BREAST c.4127G>A p.R1376Q COSMIC PASSENGER/OTHER Probably Damaging 294 TCGA-DI-A0WH-01 ENDOMETRIUM c.1259A>T p.D420V COSMIC PASSENGER/OTHER Probably Damaging 295 TCGA-DK-A1AG-01 URINARY TRACT c.3852A>G p.Q1284Q COSMIC NP NP 296 TCGA-DM-A0XD-01 LARGE INTESTINE c.1876G>A p.G626S COSMIC PASSENGER/OTHER Probably Damaging 297 TCGA-DM-A1DA-01 LARGE INTESTINE c.1372C>A p.L458I COSMIC PASSENGER/OTHER Benign 298 TCGA-DM-A28E-01 LARGE INTESTINE c.1952A>G p.E651G COSMIC PASSENGER/OTHER Probably Damaging 299 TCGA-DR-A0ZM-01 CERVIX c.2620G>A p.E874K COSMIC PASSENGER/OTHER Probably Damaging 300 TCGA-DY-A0XA-01 LARGE INTESTINE c.501G>A p.K167K COSMIC NP NP 301 TCGA-EW-A1IW-01 BREAST c.3495C>T p.L1165L COSMIC NP NP 302 TCGA-EY-A1GS-01 ENDOMETRIUM c.3592C>T p.R1198W COSMIC PASSENGER/OTHER Probably Damaging 303 TCGA-F5-6571-01 LARGE INTESTINE c.2071A>G p.M691V COSMIC PASSENGER/OTHER Benign 304 TCGA-G4-6306-01 LARGE INTESTINE c.1878T>C p.G626G COSMIC NP NP 305 TCGA-G4-6309-01 LARGE INTESTINE c.5150T>C p.L1717P COSMIC PASSENGER/OTHER Probably Damaging 306 WA56 PROSTATE c.1714_1730del17 p.Y572fs*100 COSMIC NP NP 307 cSCCP2 SKIN c.1501A>G p.T501A COSMIC PASSENGER/OTHER Benign 308 cSCCP6 SKIN c.5590G>T p.G1864W COSMIC PASSENGER/OTHER Probably Damaging 309 ccRCC-28 KIDNEY c.2324A>T p.E775V COSMIC PASSENGER/OTHER Benign 310 ccRCC-31 KIDNEY c.2972C>A p.T991K COSMIC PASSENGER/OTHER Probably Damaging 311 ccRCC-88 KIDNEY c.3349C>A p.L1117I 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. Variants are not present in 1000 Genomes!!2. Sequence alignment with CCLE mutants: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 (+)
