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: KDM6A |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 59M OVARY c.1877C>A p.A626E CCLE NP NP 2 647V URINARY TRACT c.1166C>T p.A389V CCLE PASSENGER/OTHER Benign 3 ACCS URINARY TRACT c.2839G>T p.E947* CCLE NP NP 4 BCP1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.617A>C p.E206A CCLE PASSENGER/OTHER Possibly Damaging 5 BICR18 UPPER AERODIGESTIVE TRACT c.1852C>A p.P618T CCLE PASSENGER/OTHER Probably Damaging 6 BICR18 UPPER AERODIGESTIVE TRACT c.240T>C p.Y80Y CCLE NP NP 7 BICR18 UPPER AERODIGESTIVE TRACT c.267A>G p.G89G CCLE NP NP 8 BICR6 UPPER AERODIGESTIVE TRACT c.2180G>A p.G727D CCLE NP NP 9 CAL120 BREAST c.2599G>T p.V867F CCLE NP NP 10 CAL27 UPPER AERODIGESTIVE TRACT c.3460G>A p.E1154K CCLE NP NP 11 CAL29 URINARY TRACT c.3460G>A p.E1154K CCLE NP NP 12 COLO668 LUNG c.3002G>T p.R1001L CCLE CANCER Possibly Damaging 13 COLO775 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1580A>C p.Q527P CCLE NP Benign 14 CORL95 LUNG c.799A>T p.S267C CCLE PASSENGER/OTHER Probably Damaging 15 CW2 LARGE INTESTINE c.3493G>A p.V1165I CCLE NP NP 16 ESS1 ENDOMETRIUM c.319G>A p.E107K CCLE PASSENGER/OTHER Probably Damaging 17 FTC238 THYROID c.564G>C p.K188N CCLE PASSENGER/OTHER Probably Damaging 18 HCC78 LUNG c.2456_2457insT p.S819fs CCLE NP NP 19 HEC108 ENDOMETRIUM c.1861A>G p.N621D CCLE NP NP 20 HEC108 ENDOMETRIUM c.355T>C p.Y119H CCLE PASSENGER/OTHER Probably Damaging 21 HEC151 ENDOMETRIUM c.1112C>T p.A371V CCLE PASSENGER/OTHER Probably Damaging 22 HEC151 ENDOMETRIUM c.371C>T p.S124F CCLE PASSENGER/OTHER Possibly Damaging 23 HEC151 ENDOMETRIUM c.4098_4098delA p.G1366fs CCLE NP NP 24 HEC265 ENDOMETRIUM c.738A>G p.L246L CCLE NP NP 25 HEC6 ENDOMETRIUM c.4037A>G p.Y1346C CCLE NP NP 26 HS281T BREAST c.428A>G p.Y143C CCLE PASSENGER/OTHER Probably Damaging 27 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.3487C>T p.R1163C CCLE NP NP 28 HUH28 BILIARY TRACT c.3199A>G p.T1067A CCLE NP NP 29 J82 URINARY TRACT c.4238G>A p.C1413Y CCLE NP NP 30 JHUEM7 ENDOMETRIUM c.1996G>C p.A666P CCLE NP NP 31 KM12 LARGE INTESTINE c.113_113delC p.S38fs CCLE NP NP 32 KMS34 HAEMATOPOIETIC AND LYMPHOID TISSUE c.49G>T p.A17S CCLE PASSENGER/OTHER Benign 33 KU1919 URINARY TRACT c.2743C>T p.Q915* CCLE NP NP 34 KYSE180 OESOPHAGUS c.997C>T p.Q333* CCLE NP NP 35 LP1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1777C>T p.Q593* CCLE NP NP 36 LS180 LARGE INTESTINE c.3050A>C p.N1017T CCLE NP Probably Damaging 37 LS180 LARGE INTESTINE c.4097_4098insA p.G1366fs CCLE NP NP 38 MDAMB436 BREAST c.2964G>C p.L988F CCLE NP NP 39 MFE296 ENDOMETRIUM c.1946_1947delAT p.H649fs CCLE NP NP 40 MOLT13 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3487C>T p.R1163C CCLE NP NP 41 MPP89 PLEURA c.2985T>G p.I995M CCLE NP NP 42 NCIH1436 LUNG c.4117G>T p.G1373W CCLE NP NP 43 NCIH1651 LUNG c.3241C>T p.H1081Y CCLE NP NP 44 OVK18 OVARY c.1823C>A p.P608H CCLE CANCER Probably Damaging 45 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3991C>T p.R1331* CCLE NP NP 46 REC1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1581_splice p.Q527_splice CCLE NP NP 47 RPMI8226 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1580A>C p.Q527P CCLE NP Benign 48 RT11284 URINARY TRACT c.3571_3571delC p.P1191fs CCLE NP NP 49 RT112 URINARY TRACT c.3571_3571delC p.P1191fs CCLE NP NP 50 SKLU1 LUNG c.2185C>T p.Q729* CCLE NP NP 51 SNU324 PANCREAS c.3892G>A p.A1298T CCLE NP NP 52 SNU520 STOMACH c.3919C>T p.R1307W CCLE PASSENGER/OTHER Probably Damaging 53 SNU899 UPPER AERODIGESTIVE TRACT c.2419A>G p.T807A CCLE NP NP 54 SNUC2A LARGE INTESTINE c.3675_3676insT p.Y1225fs CCLE NP NP 55 SNUC2A LARGE INTESTINE c.394_394delT p.F132fs CCLE NP NP 56 SW48 LARGE INTESTINE c.2052_2053insA p.W684fs CCLE NP NP 57 TUHR14TKB KIDNEY c.1808C>A p.P603H CCLE NP NP 58 UMUC1 URINARY TRACT c.3841C>T p.Q1281* CCLE NP NP 59 UMUC3 URINARY TRACT c.4043T>G p.L1348R CCLE NP NP 60 VMCUB1 URINARY TRACT c.3866T>A p.I1289N CCLE NP NP 61 1 OVARY c.1655G>A p.S552N COSMIC PASSENGER/OTHER Benign 62 11_3318 NS c.3799A>G p.I1267V COSMIC PASSENGER/OTHER Benign 63 148632 SALIVARY GLAND c.3419G>A p.G1140E COSMIC PASSENGER/OTHER Probably Damaging 64 3492 LARGE INTESTINE c.4124T>C p.L1375P COSMIC PASSENGER/OTHER Probably Damaging 65 585208 LUNG c.3809T>C p.M1270T COSMIC PASSENGER/OTHER Probably Damaging 66 587232 LARGE INTESTINE c.3052A>T p.K1018* COSMIC NP NP 67 587376 LARGE INTESTINE c.3638G>A p.R1213Q COSMIC PASSENGER/OTHER Probably Damaging 68 671204 NS c.3004A>G p.T1002A COSMIC CANCER Probably Damaging 69 8015423 PANCREAS c.792C>T p.T264T COSMIC NP NP 70 98687 LUNG c.2997A>C p.E999D COSMIC CANCER Probably Damaging 71 B101 URINARY TRACT c.2112_2121del10 p.T705fs*7 COSMIC NP NP 72 B104-0 URINARY TRACT c.560T>G p.L187* COSMIC NP NP 73 B105 URINARY TRACT c.1007A>G p.D336G COSMIC PASSENGER/OTHER Probably Damaging 74 B111 URINARY TRACT c.3517T>A p.Y1173N COSMIC PASSENGER/OTHER Probably Damaging 75 B114 URINARY TRACT c.3668G>A p.G1223D COSMIC PASSENGER/OTHER Probably Damaging 76 B57 URINARY TRACT c.2959A>T p.K987* COSMIC NP NP 77 B57 URINARY TRACT c.3397C>T p.Q1133* COSMIC NP NP 78 B66 URINARY TRACT c.3341C>T p.S1114L COSMIC PASSENGER/OTHER Possibly Damaging 79 B69 URINARY TRACT c.3351_3353delTCT p.L1119delL COSMIC NP NP 80 B79 URINARY TRACT c.4129C>T p.Q1377* COSMIC NP NP 81 B8 KIDNEY c.3341C>A p.S1114* COSMIC NP NP 82 B82 URINARY TRACT c.2104_2105insA p.H702fs*28 COSMIC NP NP 83 B83 URINARY TRACT c.2897C>G p.P966R COSMIC CANCER Probably Damaging 84 B85-0 URINARY TRACT c.2324C>G p.S775* COSMIC NP NP 85 B85-2 URINARY TRACT c.3582G>A p.W1194* COSMIC NP NP 86 B89-16 URINARY TRACT c.349C>T p.Q117* COSMIC NP NP 87 B89-4 URINARY TRACT c.2995G>T p.E999* COSMIC NP NP 88 B89-5 URINARY TRACT c.378C>G p.Y126* COSMIC NP NP 89 B90 URINARY TRACT c.1105C>T p.Q369* COSMIC NP NP 90 B96 URINARY TRACT c.1663C>T p.Q555* COSMIC NP NP 91 BN20T LIVER c.339A>G p.L113L COSMIC NP NP 92 BN44T LIVER c.963G>A p.W321* COSMIC NP NP 93 BV-173 HAEMATOPOIETIC AND LYMPHOID TISSUE c.226_384del159 p.0 COSMIC NP NP 94 CLL111 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3859A>T p.K1287* COSMIC NP NP 95 D-247MG CENTRAL NERVOUS SYSTEM c.514C>T p.R172* COSMIC NP NP 96 D-423MG CENTRAL NERVOUS SYSTEM c.384+1G>T p.0 COSMIC NP NP 97 ESO-1145 OESOPHAGUS c.3598C>T p.L1200F COSMIC PASSENGER/OTHER Probably Damaging 98 ESOSCC161T OESOPHAGUS c.1178G>A p.R393Q COSMIC PASSENGER/OTHER Probably Damaging 99 H322T LUNG c.3717G>T p.W1239C COSMIC PASSENGER/OTHER Probably Damaging 100 HCC1806 BREAST c.444_564del121 p.0 COSMIC NP NP 101 HCC24T LIVER c.902A>G p.Q301R COSMIC PASSENGER/OTHER Probably Damaging 102 HCC2998 LARGE INTESTINE c.3614T>G p.V1205G COSMIC PASSENGER/OTHER Possibly Damaging 103 HDLM-2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.226_654del429 p.0 COSMIC NP NP 104 ICGC_0019 PANCREAS c.792C>T p.T264T COSMIC NP NP 105 ICGC_MB49 CENTRAL NERVOUS SYSTEM c.2712_2717TAAAAA>TAAAAAA p.G904fs COSMIC NP NP 106 ICGC_MB49 CENTRAL NERVOUS SYSTEM c.2717_2718insA p.N906fs*5 COSMIC NP NP 107 ICGC_MB7 CENTRAL NERVOUS SYSTEM c.3940G>T p.G1314* COSMIC NP NP 108 KM12 LARGE INTESTINE c.117delC p.S40fs*2 COSMIC NP NP 109 KU-19-19 URINARY TRACT c.2587C>T p.Q863* COSMIC NP NP 110 KYSE-180 OESOPHAGUS c.997C>T p.Q333* COSMIC NP NP 111 KYSE-450 OESOPHAGUS c.385_654del270 p.0 COSMIC NP NP 112 L-363 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1_225del225 p.0 COSMIC NP NP 113 LB2241-RCC KIDNEY c.975-1G>T p.0 COSMIC NP NP 114 LB996-RCC KIDNEY c.2654_2663del10 p.M885fs*10 COSMIC NP NP 115 LP-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1621C>T p.Q541* COSMIC NP NP 116 LPJ023 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2529C>A p.S843R COSMIC CANCER Possibly Damaging 117 LPJ023 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2531T>A p.L844H COSMIC CANCER Probably Damaging 118 LS-174T LARGE INTESTINE c.3945_3946insA p.E1316fs*17 COSMIC NP NP 119 LUAD-B00416 LUNG c.2889G>C p.P963P COSMIC NP NP 120 LUAD-B00523 LUNG c.959C>T p.T320I COSMIC PASSENGER/OTHER Probably Damaging 121 LUAD-E01278 LUNG c.1999C>T p.Q667* COSMIC NP NP 122 LUAD-S01356 LUNG c.353G>A p.R118K COSMIC PASSENGER/OTHER Probably Damaging 123 LUAD_E00565 LUNG c.1616C>G p.S539C COSMIC PASSENGER/OTHER Possibly Damaging 124 MBRep_T41 CENTRAL NERVOUS SYSTEM c.2776_2777TC>T p.S926fs COSMIC NP NP 125 MBRep_T41 CENTRAL NERVOUS SYSTEM c.2777delC p.S926fs*11 COSMIC NP NP 126 MBRep_T48 CENTRAL NERVOUS SYSTEM c.4134_4138CAAAA>CAAAAA p.Y1378fs COSMIC NP NP 127 MBRep_T48 CENTRAL NERVOUS SYSTEM c.4138_4139insA p.M1380fs*9 COSMIC NP NP 128 MBRep_T72 CENTRAL NERVOUS SYSTEM c.3768C>G p.Y1256* COSMIC NP NP 129 MD-305 CENTRAL NERVOUS SYSTEM c.4001G>A p.C1334Y COSMIC CANCER Probably Damaging 130 MD-331 CENTRAL NERVOUS SYSTEM c.3154_3155insA p.R1054fs*5 COSMIC NP NP 131 MD-342 CENTRAL NERVOUS SYSTEM c.3646G>T p.D1216Y COSMIC PASSENGER/OTHER Probably Damaging 132 MFE-296 ENDOMETRIUM c.1793_1794delTA p.I598fs*6 COSMIC NP NP 133 MONO-MAC-6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.226_875del650 p.0 COSMIC NP NP 134 MUTZ-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.226_654del429 p.0 COSMIC NP NP 135 Mx42 LARGE INTESTINE c.3317T>G p.L1106R COSMIC CANCER Probably Damaging 136 NALM-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.226_654del429 p.0 COSMIC NP NP 137 NB-1243 AUTONOMIC GANGLIA c.3904C>T p.Q1302* COSMIC NP NP 138 NCI-H128 LUNG c.2122G>T p.G708* COSMIC NP NP 139 NCI-H1926 LUNG c.869_870insT p.G291fs*22 COSMIC NP NP 140 P07-360 PROSTATE c.3189_3196delTGAATCTA p.E1064fs*4 COSMIC NP NP 141 P51 LIVER c.4205G>C p.*1402S COSMIC NP NP 142 PA090 PANCREAS c.3115C>G p.Q1039E COSMIC CANCER Probably Damaging 143 PCSI_0102_Pa_P NS c.1819G>A p.V607M COSMIC CANCER Probably Damaging 144 PD2147a KIDNEY c.4161_4162delTG p.Y1387fs*1 COSMIC NP NP 145 PD2173a KIDNEY c.3930C>A p.L1310L COSMIC NP NP 146 PD2213a KIDNEY c.2090delA p.N697fs*18 COSMIC NP NP 147 PD2916a HAEMATOPOIETIC AND LYMPHOID TISSUE c.1787delA p.N596fs*3 COSMIC NP NP 148 PD2933a HAEMATOPOIETIC AND LYMPHOID TISSUE c.3014delT p.L1005fs*43 COSMIC NP NP 149 PD3189a SALIVARY GLAND c.975-1G>T p.0 COSMIC NP NP 150 PD3245a OESOPHAGUS c.646G>T p.E216* COSMIC NP NP 151 PD3318a KIDNEY c.3445_3446delAA p.N1149fs*1 COSMIC NP NP 152 PD3386a KIDNEY c.3220A>G p.R1074G COSMIC CANCER Benign 153 PD3521a KIDNEY c.2312G>A p.G771D COSMIC CANCER Possibly Damaging 154 PD3529a KIDNEY c.2929C>A p.L977I COSMIC PASSENGER/OTHER Probably Damaging 155 PD3577a KIDNEY c.1834C>T p.R612* COSMIC NP NP 156 PD6761a NS c.2599A>T p.K867* COSMIC NP NP 157 PF-382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3835C>T p.R1279* COSMIC NP NP 158 PR-2916 PROSTATE c.3479G>T p.G1160V COSMIC PASSENGER/OTHER Probably Damaging 159 PR-3036 PROSTATE c.3470T>A p.I1157K COSMIC PASSENGER/OTHER Probably Damaging 160 RK086_C01 LIVER c.3172A>G p.K1058E COSMIC CANCER Possibly Damaging 161 RK091_C01 LIVER c.1460T>G p.L487* COSMIC NP NP 162 RT-112 URINARY TRACT c.3416delC p.P1139fs*19 COSMIC NP NP 163 S00946 LUNG c.1268G>T p.W423L COSMIC PASSENGER/OTHER Probably Damaging 164 SA052 BREAST c.3338_3339insGTCGT p.A1115fs*7 COSMIC NP NP 165 SA218 BREAST c.3763C>T p.R1255W COSMIC PASSENGER/OTHER Probably Damaging 166 SJMB009 CENTRAL NERVOUS SYSTEM c.3434G>A p.G1145D COSMIC PASSENGER/OTHER Probably Damaging 167 SJMB017 CENTRAL NERVOUS SYSTEM c.894delG p.V300fs*25 COSMIC NP NP 168 SJMB029 CENTRAL NERVOUS SYSTEM c.3725G>T p.G1242V COSMIC PASSENGER/OTHER Probably Damaging 169 SJMB071 CENTRAL NERVOUS SYSTEM c.1077_1078insG p.T360fs*4 COSMIC NP NP 170 SJMB078 CENTRAL NERVOUS SYSTEM c.3681G>A p.W1227* COSMIC NP NP 171 SJMB101 CENTRAL NERVOUS SYSTEM c.2966T>A p.L989* COSMIC NP NP 172 SK-LU-1 LUNG c.2029C>T p.Q677* COSMIC NP NP 173 SK-MM-2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1_225del225 p.0 COSMIC NP NP 174 SNU-C2B LARGE INTESTINE c.3520_3521insT p.W1174fs*6 COSMIC NP NP 175 SWE-18 PROSTATE c.4034delC p.T1345fs*11 COSMIC NP NP 176 SWE-23 PROSTATE c.311T>G p.L104R COSMIC CANCER Probably Damaging 177 SWE-37 PROSTATE c.3111G>A p.Q1037Q COSMIC NP NP 178 SWE-55B PROSTATE c.2880T>G p.C960W COSMIC PASSENGER/OTHER Probably Damaging 179 SWE-9 PROSTATE c.450_451insA p.A152fs*9 COSMIC NP NP 180 TCGA-18-3411-01 LUNG c.1555C>T p.R519* COSMIC NP NP 181 TCGA-30-1714-01 OVARY c.2857_2858delTT p.F953fs*25 COSMIC NP NP 182 TCGA-33-4538-01 LUNG c.649A>G p.T217A COSMIC PASSENGER/OTHER Possibly Damaging 183 TCGA-35-5375-01 LUNG c.3571G>T p.G1191C COSMIC PASSENGER/OTHER Probably Damaging 184 TCGA-44-2661-01 LUNG c.3120C>T p.A1040A COSMIC NP NP 185 TCGA-55-5899-01 LUNG c.2007C>T p.L669L COSMIC NP NP 186 TCGA-66-2742-01 LUNG c.3154G>T p.E1052* COSMIC NP NP 187 TCGA-66-2795-01 LUNG c.2702G>A p.R901K COSMIC CANCER Probably Damaging 188 TCGA-78-7166-01 LUNG c.994A>T p.N332Y COSMIC PASSENGER/OTHER Probably Damaging 189 TCGA-78-7536-01 LUNG c.3961G>T p.G1321W COSMIC PASSENGER/OTHER Probably Damaging 190 TCGA-A1-A0SI-01 BREAST c.1509C>G p.V503V COSMIC NP NP 191 TCGA-A5-A0R6-01 ENDOMETRIUM c.3022_3050del29 p.A1008fs*7 COSMIC NP NP 192 TCGA-A6-3809-01 LARGE INTESTINE c.3472A>C p.N1158H COSMIC PASSENGER/OTHER Probably Damaging 193 TCGA-A6-5666-01 LARGE INTESTINE c.2588A>G p.Q863R COSMIC CANCER Benign 194 TCGA-A6-6654-01 LARGE INTESTINE c.2313T>G p.G771G COSMIC NP NP 195 TCGA-A8-A06Y-01 BREAST c.736delT p.L246fs*4 COSMIC NP NP 196 TCGA-AA-3713-01 LARGE INTESTINE c.3929T>C p.L1310P COSMIC PASSENGER/OTHER Probably Damaging 197 TCGA-AA-A00R-01 LARGE INTESTINE c.1599G>A p.L533L COSMIC NP NP 198 TCGA-AA-A010-01 LARGE INTESTINE c.1819G>A p.V607M COSMIC CANCER Probably Damaging 199 TCGA-AB-2806-03 HAEMATOPOIETIC AND LYMPHOID TISSUE c.997C>A p.Q333K COSMIC PASSENGER/OTHER Probably Damaging 200 TCGA-AB-2867-03 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1861C>T p.R621C COSMIC PASSENGER/OTHER Benign 201 TCGA-AD-6964-01 LARGE INTESTINE c.2713delA p.N906fs*31 COSMIC NP NP 202 TCGA-AO-A12A-01 BREAST c.3356T>C p.L1119P COSMIC PASSENGER/OTHER Probably Damaging 203 TCGA-AP-A051-01 ENDOMETRIUM c.1213C>T p.P405S COSMIC PASSENGER/OTHER Benign 204 TCGA-AP-A051-01 ENDOMETRIUM c.1482G>A p.M494I COSMIC PASSENGER/OTHER Benign 205 TCGA-AP-A051-01 ENDOMETRIUM c.2019C>T p.G673G COSMIC NP NP 206 TCGA-AP-A056-01 ENDOMETRIUM c.2705A>G p.N902S COSMIC CANCER Possibly Damaging 207 TCGA-AP-A056-01 ENDOMETRIUM c.502G>T p.E168* COSMIC NP NP 208 TCGA-AP-A059-01 ENDOMETRIUM c.2911C>T p.R971C COSMIC CANCER Probably Damaging 209 TCGA-AP-A0LM-01 ENDOMETRIUM c.3336C>T p.V1112V COSMIC NP NP 210 TCGA-AX-A0J0-01 ENDOMETRIUM c.300T>C p.G100G COSMIC NP NP 211 TCGA-AX-A0J1-01 ENDOMETRIUM c.1246C>T p.L416F COSMIC PASSENGER/OTHER Probably Damaging 212 TCGA-AZ-4315-01 LARGE INTESTINE c.3836G>A p.R1279Q COSMIC PASSENGER/OTHER Possibly Damaging 213 TCGA-B5-A0JY-01 ENDOMETRIUM c.3540C>A p.F1180L COSMIC PASSENGER/OTHER Possibly Damaging 214 TCGA-B5-A0JY-01 ENDOMETRIUM c.389C>A p.A130D COSMIC PASSENGER/OTHER Probably Damaging 215 TCGA-B5-A11E-01 ENDOMETRIUM c.2657C>A p.S886Y COSMIC CANCER Probably Damaging 216 TCGA-B5-A11G-01 ENDOMETRIUM c.3677_3678insT p.W1227fs*24 COSMIC NP NP 217 TCGA-BG-A0LX-01 ENDOMETRIUM c.2289C>T p.S763S COSMIC NP NP 218 TCGA-BH-A0HA-01 BREAST c.3452A>G p.N1151S COSMIC PASSENGER/OTHER Possibly Damaging 219 TCGA-BK-A0C9-01 ENDOMETRIUM c.2293G>T p.G765* COSMIC NP NP 220 TCGA-BP-5201-01 KIDNEY c.2076G>A p.Q692Q COSMIC NP NP 221 TCGA-BS-A0UF-01 ENDOMETRIUM c.711T>G p.L237L COSMIC NP NP 222 TCGA-BS-A0UV-01 ENDOMETRIUM c.4028T>G p.F1343C COSMIC PASSENGER/OTHER Probably Damaging 223 TCGA-BT-A3PH-01 URINARY TRACT c.3182C>G p.S1061* COSMIC NP NP 224 TCGA-BT-A3PH-01 URINARY TRACT c.943G>C p.E315Q COSMIC PASSENGER/OTHER Probably Damaging 225 TCGA-C4-A0EZ-01 URINARY TRACT c.2319A>G p.L773L COSMIC NP NP 226 TCGA-C4-A0F6-01 URINARY TRACT c.3060C>T p.I1020I COSMIC NP NP 227 TCGA-CA-6717-01 LARGE INTESTINE c.975T>C p.G325G COSMIC NP NP 228 TCGA-CK-5914-01 LARGE INTESTINE c.998A>G p.Q333R COSMIC PASSENGER/OTHER Probably Damaging 229 TCGA-CM-4747-01 LARGE INTESTINE c.2242C>T p.P748S COSMIC PASSENGER/OTHER Benign 230 TCGA-CM-5348-01 LARGE INTESTINE c.2311G>C p.G771R COSMIC CANCER Possibly Damaging 231 TCGA-CM-6164-01 LARGE INTESTINE c.3220A>G p.R1074G COSMIC CANCER Benign 232 TCGA-CM-6168-01 LARGE INTESTINE c.2030A>G p.Q677R COSMIC PASSENGER/OTHER Benign 233 TCGA-CM-6169-01 LARGE INTESTINE c.3317T>C p.L1106P COSMIC CANCER Probably Damaging 234 TCGA-CM-6676-01 LARGE INTESTINE c.2930T>C p.L977P COSMIC PASSENGER/OTHER Probably Damaging 235 TCGA-CU-A3KJ-01 URINARY TRACT c.3578G>A p.W1193* COSMIC NP NP 236 TCGA-D1-A103-01 ENDOMETRIUM c.3763C>T p.R1255W COSMIC PASSENGER/OTHER Probably Damaging 237 TCGA-D1-A167-01 ENDOMETRIUM c.494G>A p.R165Q COSMIC PASSENGER/OTHER Possibly Damaging 238 TCGA-D5-6529-01 LARGE INTESTINE c.3317T>C p.L1106P COSMIC CANCER Probably Damaging 239 TCGA-D5-6529-01 LARGE INTESTINE c.516A>G p.R172R COSMIC NP NP 240 TCGA-D5-6535-01 LARGE INTESTINE c.1621C>T p.Q541* COSMIC NP NP 241 TCGA-D5-6540-01 LARGE INTESTINE c.1444G>A p.A482T COSMIC PASSENGER/OTHER Benign 242 TCGA-D5-6926-01 LARGE INTESTINE c.3929T>C p.L1310P COSMIC PASSENGER/OTHER Probably Damaging 243 TCGA-D5-6929-01 LARGE INTESTINE c.3929T>C p.L1310P COSMIC PASSENGER/OTHER Probably Damaging 244 TCGA-D5-7000-01 LARGE INTESTINE c.1364_1365insG p.S456fs*29 COSMIC NP NP 245 TCGA-D8-A1JH-01 BREAST c.1547_1548insA p.Q517fs*9 COSMIC NP NP 246 TCGA-DC-6681-01 LARGE INTESTINE c.3317T>C p.L1106P COSMIC CANCER Probably Damaging 247 TCGA-DI-A0WH-01 ENDOMETRIUM c.576A>G p.L192L COSMIC NP NP 248 TCGA-DK-A1A7-01 URINARY TRACT c.1663C>T p.Q555* COSMIC NP NP 249 TCGA-DK-A1AA-01 URINARY TRACT c.832G>T p.E278* COSMIC NP NP 250 TCGA-DK-A1AB-01 URINARY TRACT c.4009G>T p.E1337* COSMIC NP NP 251 TCGA-DK-A2I2-01 URINARY TRACT c.3579G>A p.W1193* COSMIC NP NP 252 TCGA-DK-A3IS-01 URINARY TRACT c.571C>T p.Q191* COSMIC NP NP 253 TCGA-DM-A0XF-01 LARGE INTESTINE c.3929T>C p.L1310P COSMIC PASSENGER/OTHER Probably Damaging 254 TCGA-DM-A28C-01 LARGE INTESTINE c.2311G>T p.G771C COSMIC CANCER Probably Damaging 255 TCGA-DM-A28E-01 LARGE INTESTINE c.3837A>G p.R1279R COSMIC NP NP 256 TCGA-DM-A28F-01 LARGE INTESTINE c.3836G>A p.R1279Q COSMIC PASSENGER/OTHER Possibly Damaging 257 TCGA-DS-A0VK-01 CERVIX c.3337G>A p.V1113I COSMIC PASSENGER/OTHER Possibly Damaging 258 TCGA-DY-A1DC-01 LARGE INTESTINE c.2313T>C p.G771G COSMIC NP NP 259 TCGA-E5-A2PC-01 URINARY TRACT c.4074C>A p.C1358* COSMIC NP NP 260 TCGA-E9-A1RF-01 BREAST c.781G>C p.D261H COSMIC PASSENGER/OTHER Probably Damaging 261 TCGA-EI-6507-01 LARGE INTESTINE c.2124A>G p.G708G COSMIC NP NP 262 TCGA-EJ-5509-01 PROSTATE c.2960A>G p.K987R COSMIC PASSENGER/OTHER Probably Damaging 263 TCGA-F4-6805-01 LARGE INTESTINE c.2930T>C p.L977P COSMIC PASSENGER/OTHER Probably Damaging 264 TCGA-FD-A3B5-01 URINARY TRACT c.3634C>T p.Q1212* COSMIC NP NP 265 TCGA-FD-A3N5-01 URINARY TRACT c.1531A>T p.R511* COSMIC NP NP 266 TCGA-G2-A2EK-01 URINARY TRACT c.439C>T p.Q147* COSMIC NP NP 267 TCGA-G4-6303-01 LARGE INTESTINE c.975-1G>T p.0 COSMIC NP NP 268 TCGA-G4-6306-01 LARGE INTESTINE c.2313T>C p.G771G COSMIC NP NP 269 TCGA-G4-6586-01 LARGE INTESTINE c.515G>A p.R172Q COSMIC PASSENGER/OTHER Possibly Damaging 270 TE-15 OESOPHAGUS c.226_384del159 p.0 COSMIC NP NP 271 TE-6 OESOPHAGUS c.1_225del225 p.0 COSMIC NP NP 272 THP-1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1_1923del1923 p.0 COSMIC NP NP 273 WA57 PROSTATE c.2443G>A p.V815I COSMIC CANCER Possibly Damaging 274 YURUS SKIN c.1789C>T p.H597Y COSMIC PASSENGER/OTHER Benign 275 pfg008T STOMACH c.3253G>A p.G1085R COSMIC CANCER 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.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. Sequence alignment with CCLE mutants: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 (+)
