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.test -
Tertiary structure (+)
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Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PB002066 Pfam-B_2066 1 52 3.8e-20 PF13414 TPR_11 128 194 5.3e-07 PF13181 TPR_8 207 234 0.093 PF13431 TPR_17 273 303 7.4e-05 PF13414 TPR_11 318 378 1.1e-06 PB000604 Pfam-B_604 631 770 1.5e-38 PB002513 Pfam-B_2513 766 859 6.5e-11 PB000972 Pfam-B_972 771 1109 9.1e-195 PF02373 JmjC 1133 1241 3.4e-33 2. Superfamily Domains:Domain ID Start Site End Site E-value 0047105 954 1045 1.62e-46 0051253 110 327 2.47e-23 0049644 317 379 1.79e-08 -
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 (+)
Proteomics DB COSMIC Gene Atlas STRING PIR KDM6A KDM6A KDM6A ENSP00000367203 O15550 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt O15550 KDM6A ENSP00000367203 KDM6A O15550 Expression Atlas Protein Atlas OMIM IntAct PharmGKB KDM6A ENSP00000367203 300128 O15550 PA37262
