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: SETD2 |
| Expand All | Collapse All |
-
Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 001 KIDNEY c.2900C>T p.P967L COSMIC NP NP 2 002 KIDNEY c.2986T>C p.C996R COSMIC NP NP 3 002 KIDNEY c.3456_3457insGAAG p.V1153fs*11 COSMIC NP NP 4 10-407 SOFT TISSUE c.5462C>T p.A1821V COSMIC NP NP 5 1352071 KIDNEY c.3337G>A p.D1113N COSMIC NP NP 6 587338 LARGE INTESTINE c.2456G>A p.R819Q COSMIC NP NP 7 587342 LARGE INTESTINE c.4055T>C p.L1352P COSMIC NP NP 8 587376 LARGE INTESTINE c.1836A>C p.E612D COSMIC NP NP 9 587376 LARGE INTESTINE c.23C>A p.S8Y COSMIC NP NP 10 587376 LARGE INTESTINE c.2456G>A p.R819Q COSMIC NP NP 11 A498 HAEMATOPOIETIC AND LYMPHOID TISSUE c.6096_6097delTG p.V2033fs*9 COSMIC NP NP 12 BN30T LIVER c.2908T>G p.F970V COSMIC NP NP 13 BN43T LIVER c.2801C>G p.S934* COSMIC NP NP 14 Br27P CENTRAL NERVOUS SYSTEM c.2992T>G p.C998G COSMIC NP NP 15 DLBCL1052 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3218T>G p.V1073G COSMIC NP NP 16 DLBCL759 HAEMATOPOIETIC AND LYMPHOID TISSUE c.770T>C p.L257P COSMIC NP NP 17 DLBCL806 HAEMATOPOIETIC AND LYMPHOID TISSUE c.774G>A p.M258I COSMIC NP NP 18 DLBCL890 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3488A>G p.Y1163C COSMIC NP NP 19 ESO-007 OESOPHAGUS c.789G>A p.M263I COSMIC NP NP 20 ESO-027 OESOPHAGUS c.5110C>G p.Q1704E COSMIC NP NP 21 ESO-118 OESOPHAGUS c.3584G>C p.R1195T COSMIC NP NP 22 GC8_T STOMACH c.1731G>A p.M577I COSMIC NP NP 23 GC8_T STOMACH c.4376C>T p.P1459L COSMIC NP NP 24 HCC108T LIVER c.3377A>G p.H1126R COSMIC NP NP 25 HCC122T LIVER c.774G>A p.M258I COSMIC NP NP 26 HCC20T LIVER c.3738_3739delGC p.Q1247fs*38 COSMIC NP NP 27 HCC2218 BREAST c.1689C>G p.L563L COSMIC NP NP 28 HCC2998 LARGE INTESTINE c.3349A>C p.K1117Q COSMIC NP NP 29 HCC58T LIVER c.1661A>T p.D554V COSMIC NP NP 30 HCC68T LIVER c.3809G>T p.R1270L COSMIC NP NP 31 HCC89T LIVER c.1439A>G p.E480G COSMIC NP NP 32 HCT-116 LARGE INTESTINE c.6145G>A p.G2049R COSMIC NP NP 33 ICGC_MB32 CENTRAL NERVOUS SYSTEM c.5628_5629insC p.S1879fs*47 COSMIC NP NP 34 ICGC_MB32 CENTRAL NERVOUS SYSTEM c.5629_5635CCCCCCT>CCCCCCCT p.P1877fs COSMIC NP NP 35 K141 KIDNEY c.4398delA p.K1466fs*2 COSMIC NP NP 36 K246 KIDNEY c.4409delC p.P1470fs*33 COSMIC NP NP 37 K368 KIDNEY c.2905_2906insA p.Y969fs*1 COSMIC NP NP 38 LB996-RCC KIDNEY c.3421G>T p.G1141* COSMIC NP NP 39 LC_C13 LUNG c.3936G>T p.L1312F COSMIC NP NP 40 LC_C13 LUNG c.3937G>T p.E1313* COSMIC NP NP 41 LC_S28 LUNG c.4539G>T p.W1513C COSMIC NP NP 42 LC_S32 LUNG c.5828A>T p.E1943V COSMIC NP NP 43 LC_S41 LUNG c.1643C>A p.S548* COSMIC NP NP 44 LOXIMVI HAEMATOPOIETIC AND LYMPHOID TISSUE c.3364C>T p.R1122C COSMIC NP NP 45 LUAD-5V8LT LUNG c.1116delG p.S373fs*15 COSMIC NP NP 46 LUAD-NYU1210 LUNG c.4706_4707delAA p.K1569fs*17 COSMIC NP NP 47 LUAD-RT-S01477 LUNG c.2281C>G p.Q761E COSMIC NP NP 48 LUAD-RT-S01477 LUNG c.5737C>G p.Q1913E COSMIC NP Possibly Damaging 49 LUAD-RT-S01818 LUNG c.5785G>A p.E1929K COSMIC NP NP 50 LUAD-S00484 LUNG c.4736C>T p.S1579L COSMIC NP NP 51 LUAD-S01315 LUNG c.5621A>G p.D1874G COSMIC NP NP 52 LUAD-S01315 LUNG c.584C>T p.S195F COSMIC NP NP 53 LUAD-YINHD LUNG c.5509C>T p.H1837Y COSMIC NP NP 54 LUAD_E01086 LUNG c.1951_1954delGATA p.D651fs*22 COSMIC NP NP 55 Ly1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5376A>G p.I1792M COSMIC NP NP 56 Ly10 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1147C>G p.L383V COSMIC PASSENGER/OTHER Benign 57 MD-342 CENTRAL NERVOUS SYSTEM c.1625C>A p.S542* COSMIC NP NP 58 ME044T SKIN c.4859A>G p.K1620R COSMIC PASSENGER/OTHER Probably Damaging 59 MEL-Ma-Mel-48 SKIN c.1583delT p.V528fs*90 COSMIC NP NP 60 MZ7-mel SKIN c.2028C>T p.D676D COSMIC NP NP 61 P04-2666 PROSTATE c.5037T>C p.P1679P COSMIC NP NP 62 PACA50 PANCREAS c.4338_4340delACC p.P1447delP COSMIC NP NP 63 PD1754a KIDNEY c.5218delC p.Q1740fs*5 COSMIC NP NP 64 PD2126a KIDNEY c.1417A>T p.R473* COSMIC NP NP 65 PD2146a KIDNEY c.3383G>A p.C1128Y COSMIC NP NP 66 PD2153a KIDNEY c.3545G>T p.C1182F COSMIC NP NP 67 PD2186a KIDNEY c.5619_5626delGGATCTGC p.L1873fs*50 COSMIC NP NP 68 PD2205a KIDNEY c.2659delT p.S887fs*4 COSMIC NP NP 69 PD2214a KIDNEY c.3392_3393delAT p.N1131fs*2 COSMIC NP NP 70 PD3338a KIDNEY c.92_122del31 p.P31fs*35 COSMIC NP NP 71 PD3363a KIDNEY c.5341C>T p.Q1781* COSMIC NP NP 72 PD3379a KIDNEY c.4333A>T p.K1445* COSMIC NP NP 73 PD3408a KIDNEY c.1850_1853delTAGC p.I617fs*33 COSMIC NP NP 74 PD3419a KIDNEY c.5540_5555del16 p.A1847fs*17 COSMIC NP NP 75 PD3431a KIDNEY c.4841delC p.S1614fs*30 COSMIC NP NP 76 PD3437a KIDNEY c.2965C>T p.R989* COSMIC NP NP 77 PD3528a KIDNEY c.3152T>G p.V1051G COSMIC NP NP 78 PD4120a BREAST c.688G>C p.D230H COSMIC NP NP 79 PD4127a BREAST c.1981C>T p.Q661* COSMIC NP NP 80 PD4127a BREAST c.5686C>T p.R1896* COSMIC NP NP 81 PD6350a NS c.3265C>T p.R1089* COSMIC NP NP 82 PD6350a NS c.3446C>A p.T1149N COSMIC NP NP 83 PGBM03PT CENTRAL NERVOUS SYSTEM c.2866C>T p.R956* COSMIC NP NP 84 RCC-AB KIDNEY c.4885_4885delC p.R1629fs*15 COSMIC NP NP 85 RCC-ER KIDNEY c.455T>A p.L152* COSMIC NP NP 86 RCC-JF KIDNEY c.2637T>C p.A879A COSMIC NP NP 87 RCC-JW KIDNEY c.2267G>T p.G756V COSMIC NP NP 88 RCC-MF KIDNEY c.3769_3777del9 p.N1257_H1259del COSMIC NP NP 89 RCC-MF KIDNEY c.3769_3777delAACACACAC p.N1257_H1259delNTH COSMIC NP NP 90 RK036_C01 LIVER c.4017G>C p.G1339G COSMIC NP NP 91 RK052_C01 LIVER c.2425A>T p.R809* COSMIC NP NP 92 RK052_C01 LIVER c.5736T>G p.T1912T COSMIC NP NP 93 RK056_C01 LIVER c.4849G>T p.E1617* COSMIC NP NP 94 S00836 LUNG c.5463C>G p.A1821A COSMIC NP NP 95 SA098 BREAST c.2143C>T p.Q715* COSMIC NP NP 96 SK-MEL-2 SKIN c.649G>A p.G217R COSMIC NP NP 97 T-3 KIDNEY c.3337G>A p.D1113N COSMIC NP NP 98 T-4 KIDNEY c.5551A>G p.T1851A COSMIC NP Probably Damaging 99 T-g KIDNEY c.2388C>T p.Y796Y COSMIC NP NP 100 T164 KIDNEY c.3352G>A p.G1118R COSMIC NP NP 101 TCGA-05-4427-01 LUNG c.2144A>C p.Q715P COSMIC NP NP 102 TCGA-09-1674-01 OVARY c.5080G>C p.V1694L COSMIC NP NP 103 TCGA-13-0893-01 OVARY c.3467G>T p.G1156V COSMIC NP NP 104 TCGA-13-0923-01 OVARY c.3890T>A p.I1297N COSMIC NP NP 105 TCGA-13-1404-01 OVARY c.3587C>T p.A1196V COSMIC NP NP 106 TCGA-24-1427-01 OVARY c.1438G>T p.E480* COSMIC NP NP 107 TCGA-24-2290-01 OVARY c.5019T>A p.Y1673* COSMIC NP NP 108 TCGA-34-2600-01 LUNG c.5599G>T p.V1867F COSMIC NP NP 109 TCGA-34-5927-01 LUNG c.3464C>T p.S1155L COSMIC NP NP 110 TCGA-36-1569-01 OVARY c.2026G>C p.D676H COSMIC NP NP 111 TCGA-38-4631-01 LUNG c.3043G>T p.E1015* COSMIC NP NP 112 TCGA-44-2666-01 LUNG c.2455C>T p.R819* COSMIC NP NP 113 TCGA-44-7670-01 LUNG c.5442A>C p.P1814P COSMIC NP NP 114 TCGA-46-6026-01 LUNG c.3365G>A p.R1122H COSMIC NP NP 115 TCGA-49-4487-01 LUNG c.1678A>T p.R560* COSMIC NP NP 116 TCGA-49-6744-01 LUNG c.3038G>T p.C1013F COSMIC NP NP 117 TCGA-50-5942-01 LUNG c.3113A>G p.N1038S COSMIC NP NP 118 TCGA-50-5942-01 LUNG c.3490C>T p.Q1164* COSMIC NP NP 119 TCGA-53-7624-01 LUNG c.122C>T p.S41L COSMIC NP NP 120 TCGA-53-7624-01 LUNG c.1870C>G p.Q624E COSMIC NP NP 121 TCGA-53-7624-01 LUNG c.5575C>G p.Q1859E COSMIC NP NP 122 TCGA-60-2723-01 LUNG c.4537T>C p.W1513R COSMIC NP NP 123 TCGA-64-5775-01 LUNG c.1054A>T p.S352C COSMIC NP NP 124 TCGA-66-2786-01 LUNG c.3757G>T p.E1253* COSMIC NP NP 125 TCGA-67-6216-01 LUNG c.4690A>T p.K1564* COSMIC NP NP 126 TCGA-73-4666-01 LUNG c.3041G>T p.G1014V COSMIC PASSENGER/OTHER Benign 127 TCGA-73-4676-01 LUNG c.2965C>T p.R989* COSMIC NP NP 128 TCGA-75-5126-01 LUNG c.2941G>T p.E981* COSMIC NP NP 129 TCGA-75-6214-01 LUNG c.2246C>G p.S749* COSMIC NP NP 130 TCGA-75-7025-01 LUNG c.2142G>A p.W714* COSMIC NP NP 131 TCGA-78-7150-01 LUNG c.5537C>G p.A1846G COSMIC NP NP 132 TCGA-91-6848-01 LUNG c.2827G>T p.G943W COSMIC NP NP 133 TCGA-97-7941-01 LUNG c.2993G>C p.C998S COSMIC NP NP 134 TCGA-97-7941-01 LUNG c.4699C>T p.Q1567* COSMIC NP NP 135 TCGA-A3-3311-01 KIDNEY c.6020G>A p.R2007H COSMIC NP NP 136 TCGA-A3-3374-01 KIDNEY c.4704T>A p.N1568K COSMIC NP Probably Damaging 137 TCGA-A3-3380-01 KIDNEY c.5404G>T p.V1802F COSMIC NP NP 138 TCGA-A5-A0VP-01 ENDOMETRIUM c.3809G>A p.R1270H COSMIC NP NP 139 TCGA-A6-2672-01 LARGE INTESTINE c.4526T>G p.L1509R COSMIC NP Probably Damaging 140 TCGA-A6-5659-01 LARGE INTESTINE c.3383G>A p.C1128Y COSMIC NP NP 141 TCGA-A6-5664-01 LARGE INTESTINE c.3382T>C p.C1128R COSMIC NP NP 142 TCGA-A6-5665-01 LARGE INTESTINE c.4561C>T p.R1521* COSMIC NP NP 143 TCGA-A6-5665-01 LARGE INTESTINE c.815T>G p.V272G COSMIC NP NP 144 TCGA-A6-6141-01 LARGE INTESTINE c.77G>T p.R26I COSMIC NP NP 145 TCGA-A8-A06Z-01 BREAST c.5616C>T p.L1872L COSMIC NP NP 146 TCGA-A8-A09E-01 BREAST c.5960G>A p.R1987Q COSMIC NP NP 147 TCGA-AA-3525-01 LARGE INTESTINE c.5338C>T p.Q1780* COSMIC NP NP 148 TCGA-AA-3543-01 LARGE INTESTINE c.3439T>G p.F1147V COSMIC NP NP 149 TCGA-AA-3662-01 LARGE INTESTINE c.3384T>C p.C1128C COSMIC NP NP 150 TCGA-AA-3663-01 LARGE INTESTINE c.3467G>A p.G1156D COSMIC NP NP 151 TCGA-AA-3680-01 LARGE INTESTINE c.5354C>T p.P1785L COSMIC NP NP 152 TCGA-AA-3710-01 LARGE INTESTINE c.1852G>A p.A618T COSMIC NP NP 153 TCGA-AA-3851-01 LARGE INTESTINE c.5765C>T p.P1922L COSMIC NP NP 154 TCGA-AA-3947-01 LARGE INTESTINE c.1995T>C p.V665V COSMIC NP NP 155 TCGA-AA-3984-01 LARGE INTESTINE c.3135G>A p.Q1045Q COSMIC NP NP 156 TCGA-AA-3984-01 LARGE INTESTINE c.5905G>A p.E1969K COSMIC NP Probably Damaging 157 TCGA-AA-A00E-01 LARGE INTESTINE c.1019A>T p.D340V COSMIC NP NP 158 TCGA-AA-A00N-01 LARGE INTESTINE c.3058C>T p.R1020C COSMIC NP NP 159 TCGA-AA-A010-01 LARGE INTESTINE c.1191C>T p.C397C COSMIC NP NP 160 TCGA-AD-6548-01 LARGE INTESTINE c.5846C>T p.S1949L COSMIC NP Benign 161 TCGA-AD-6889-01 LARGE INTESTINE c.3929delA p.N1310fs*25 COSMIC NP NP 162 TCGA-AF-2691-01 LARGE INTESTINE c.5686C>T p.R1896* COSMIC NP NP 163 TCGA-AF-2693-01 LARGE INTESTINE c.2637T>C p.A879A COSMIC NP NP 164 TCGA-AG-3892-01 LARGE INTESTINE c.1768A>C p.S590R COSMIC NP NP 165 TCGA-AG-A002-01 LARGE INTESTINE c.2653G>T p.D885Y COSMIC NP NP 166 TCGA-AG-A002-01 LARGE INTESTINE c.3059G>A p.R1020H COSMIC NP NP 167 TCGA-AG-A002-01 LARGE INTESTINE c.40G>T p.E14* COSMIC NP NP 168 TCGA-AG-A002-01 LARGE INTESTINE c.4817G>A p.R1606Q COSMIC NP NP 169 TCGA-AH-6549-01 LARGE INTESTINE c.3724A>G p.I1242V COSMIC NP NP 170 TCGA-AK-3455-01 KIDNEY c.3440T>C p.F1147S COSMIC NP NP 171 TCGA-AO-A03T-01 BREAST c.227A>G p.N76S COSMIC NP Probably Damaging 172 TCGA-AP-A051-01 ENDOMETRIUM c.1171A>G p.S391G COSMIC PASSENGER/OTHER Probably Damaging 173 TCGA-AP-A051-01 ENDOMETRIUM c.1958G>A p.R653H COSMIC NP NP 174 TCGA-AP-A056-01 ENDOMETRIUM c.4817G>A p.R1606Q COSMIC NP NP 175 TCGA-AP-A059-01 ENDOMETRIUM c.2782G>A p.V928I COSMIC NP NP 176 TCGA-AP-A059-01 ENDOMETRIUM c.2871G>A p.W957* COSMIC NP NP 177 TCGA-AP-A059-01 ENDOMETRIUM c.6058T>C p.Y2020H COSMIC NP NP 178 TCGA-AP-A0LM-01 ENDOMETRIUM c.2923G>T p.E975* COSMIC NP NP 179 TCGA-AP-A0LM-01 ENDOMETRIUM c.3321G>T p.K1107N COSMIC NP NP 180 TCGA-AP-A0LM-01 ENDOMETRIUM c.3619C>T p.R1207C COSMIC NP NP 181 TCGA-AP-A0LM-01 ENDOMETRIUM c.5975A>C p.K1992T COSMIC NP NP 182 TCGA-AP-A0LM-01 ENDOMETRIUM c.60A>C p.E20D COSMIC NP NP 183 TCGA-AP-A0LT-01 ENDOMETRIUM c.494C>T p.P165L COSMIC NP NP 184 TCGA-AU-6004-01 LARGE INTESTINE c.1688T>A p.L563H COSMIC NP NP 185 TCGA-AX-A05Z-01 ENDOMETRIUM c.2671G>T p.E891* COSMIC NP NP 186 TCGA-AX-A05Z-01 ENDOMETRIUM c.3968G>A p.R1323H COSMIC NP NP 187 TCGA-AX-A05Z-01 ENDOMETRIUM c.40G>T p.E14* COSMIC NP NP 188 TCGA-AX-A0J0-01 ENDOMETRIUM c.406G>A p.E136K COSMIC NP NP 189 TCGA-AX-A0J0-01 ENDOMETRIUM c.4510G>T p.D1504Y COSMIC NP NP 190 TCGA-AX-A0J1-01 ENDOMETRIUM c.1598A>C p.E533A COSMIC NP NP 191 TCGA-AX-A0J1-01 ENDOMETRIUM c.3968G>A p.R1323H COSMIC NP NP 192 TCGA-AY-6197-01 LARGE INTESTINE c.3421G>T p.G1141* COSMIC NP NP 193 TCGA-AY-6197-01 LARGE INTESTINE c.5877C>A p.T1959T COSMIC NP NP 194 TCGA-AY-6386-01 LARGE INTESTINE c.1439A>G p.E480G COSMIC NP NP 195 TCGA-AZ-4315-01 LARGE INTESTINE c.3244G>A p.D1082N COSMIC NP NP 196 TCGA-AZ-4681-01 LARGE INTESTINE c.2637T>C p.A879A COSMIC NP NP 197 TCGA-AZ-5407-01 LARGE INTESTINE c.2967A>G p.R989R COSMIC NP NP 198 TCGA-AZ-6599-01 LARGE INTESTINE c.2635G>T p.A879S COSMIC NP NP 199 TCGA-B0-4710-01 KIDNEY c.3409T>A p.W1137R COSMIC NP NP 200 TCGA-B0-4852-01 KIDNEY c.3371T>G p.M1124R COSMIC NP NP 201 TCGA-B0-5081-01 KIDNEY c.672C>A p.C224* COSMIC NP NP 202 TCGA-B0-5098-01 KIDNEY c.3112A>C p.N1038H COSMIC NP NP 203 TCGA-B0-5121-01 KIDNEY c.1830T>G p.Y610* COSMIC NP NP 204 TCGA-B0-5399-01 KIDNEY c.3836G>A p.W1279* COSMIC NP NP 205 TCGA-B0-5399-01 KIDNEY c.4G>T p.E2* COSMIC NP NP 206 TCGA-B0-5699-01 KIDNEY c.119C>A p.S40* COSMIC NP NP 207 TCGA-B0-5707-01 KIDNEY c.2769A>G p.K923K COSMIC NP NP 208 TCGA-B2-4101-01 KIDNEY c.3649G>T p.E1217* COSMIC NP NP 209 TCGA-B4-5832-01 KIDNEY c.3420C>T p.N1140N COSMIC NP NP 210 TCGA-B4-5835-01 KIDNEY c.170C>A p.S57* COSMIC NP NP 211 TCGA-B4-5835-01 KIDNEY c.820G>T p.E274* COSMIC NP NP 212 TCGA-B5-A0JY-01 ENDOMETRIUM c.1042G>T p.E348* COSMIC NP NP 213 TCGA-B5-A0JY-01 ENDOMETRIUM c.4037C>T p.S1346L COSMIC NP NP 214 TCGA-B5-A11E-01 ENDOMETRIUM c.5846C>T p.S1949L COSMIC NP Benign 215 TCGA-B5-A11N-01 ENDOMETRIUM c.1085A>G p.N362S COSMIC NP NP 216 TCGA-BH-A0GZ-01 BREAST c.3495C>G p.F1165L COSMIC NP NP 217 TCGA-BK-A0C9-01 ENDOMETRIUM c.3460C>T p.P1154S COSMIC NP NP 218 TCGA-BP-4963-01 KIDNEY c.4097A>T p.D1366V COSMIC NP NP 219 TCGA-BP-5169-01 KIDNEY c.4381G>T p.E1461* COSMIC NP NP 220 TCGA-BP-5178-01 KIDNEY c.3487T>C p.Y1163H COSMIC NP NP 221 TCGA-BS-A0UF-01 ENDOMETRIUM c.606G>A p.S202S COSMIC NP NP 222 TCGA-BS-A0UF-01 ENDOMETRIUM c.77G>T p.R26I COSMIC NP NP 223 TCGA-BS-A0UV-01 ENDOMETRIUM c.2217G>T p.E739D COSMIC NP NP 224 TCGA-BS-A0UV-01 ENDOMETRIUM c.5337A>G p.V1779V COSMIC NP NP 225 TCGA-BT-A20R-01 URINARY TRACT c.2246C>T p.S749L COSMIC NP NP 226 TCGA-C8-A12P-01 BREAST c.6104delA p.H2035fs*26 COSMIC NP NP 227 TCGA-C8-A274-01 BREAST c.3365G>T p.R1122L COSMIC NP NP 228 TCGA-CA-6717-01 LARGE INTESTINE c.1425A>C p.E475D COSMIC NP NP 229 TCGA-CA-6717-01 LARGE INTESTINE c.2062A>C p.K688Q COSMIC NP NP 230 TCGA-CA-6717-01 LARGE INTESTINE c.2705A>C p.K902T COSMIC NP NP 231 TCGA-CA-6717-01 LARGE INTESTINE c.2764A>C p.K922Q COSMIC PASSENGER/OTHER Benign 232 TCGA-CA-6717-01 LARGE INTESTINE c.5879C>A p.S1960Y COSMIC NP NP 233 TCGA-CF-A1HR-01 URINARY TRACT c.2977C>T p.R993* COSMIC NP NP 234 TCGA-CJ-5671-01 KIDNEY c.3376C>T p.H1126Y COSMIC NP NP 235 TCGA-CJ-5676-01 KIDNEY c.3837G>A p.W1279* COSMIC NP NP 236 TCGA-CJ-5682-01 KIDNEY c.4862T>A p.L1621* COSMIC NP NP 237 TCGA-CJ-5684-01 KIDNEY c.3075A>T p.E1025D COSMIC NP NP 238 TCGA-CK-4950-01 LARGE INTESTINE c.3337G>T p.D1113Y COSMIC NP Probably Damaging 239 TCGA-CK-4952-01 LARGE INTESTINE c.3338A>G p.D1113G COSMIC NP NP 240 TCGA-CK-5915-01 LARGE INTESTINE c.5847G>A p.S1949S COSMIC NP NP 241 TCGA-CK-6746-01 LARGE INTESTINE c.3384T>C p.C1128C COSMIC NP NP 242 TCGA-CK-6751-01 LARGE INTESTINE c.3152T>C p.V1051A COSMIC NP NP 243 TCGA-CM-4743-01 LARGE INTESTINE c.2992T>C p.C998R COSMIC NP NP 244 TCGA-CM-5344-01 LARGE INTESTINE c.2266G>T p.G756C COSMIC NP NP 245 TCGA-CM-5344-01 LARGE INTESTINE c.3337G>T p.D1113Y COSMIC NP Probably Damaging 246 TCGA-CM-5860-01 LARGE INTESTINE c.2993G>A p.C998Y COSMIC NP NP 247 TCGA-CM-5861-01 LARGE INTESTINE c.5522T>C p.V1841A COSMIC NP NP 248 TCGA-CM-6163-01 LARGE INTESTINE c.2993G>A p.C998Y COSMIC NP NP 249 TCGA-CM-6164-01 LARGE INTESTINE c.2637T>C p.A879A COSMIC NP NP 250 TCGA-CM-6171-01 LARGE INTESTINE c.3422G>A p.G1141E COSMIC NP NP 251 TCGA-CM-6677-01 LARGE INTESTINE c.3588A>G p.A1196A COSMIC NP NP 252 TCGA-CM-6680-01 LARGE INTESTINE c.3338A>G p.D1113G COSMIC NP NP 253 TCGA-CW-5580-01 KIDNEY c.2593C>T p.Q865* COSMIC NP NP 254 TCGA-CW-5591-01 KIDNEY c.3411G>T p.W1137C COSMIC NP NP 255 TCGA-CZ-5456-01 KIDNEY c.344C>G p.S115* COSMIC NP NP 256 TCGA-CZ-5459-01 KIDNEY c.3970T>C p.W1324R COSMIC NP NP 257 TCGA-CZ-5461-01 KIDNEY c.3364C>T p.R1122C COSMIC NP NP 258 TCGA-CZ-5463-01 KIDNEY c.1531G>T p.G511C COSMIC NP NP 259 TCGA-CZ-5470-01 KIDNEY c.1408A>T p.R470* COSMIC NP NP 260 TCGA-D1-A0ZN-01 ENDOMETRIUM c.2668T>G p.L890V COSMIC NP NP 261 TCGA-D1-A103-01 ENDOMETRIUM c.5877C>A p.T1959T COSMIC NP NP 262 TCGA-D1-A15X-01 ENDOMETRIUM c.3170A>G p.K1057R COSMIC NP NP 263 TCGA-D1-A15X-01 ENDOMETRIUM c.4721G>A p.R1574Q COSMIC NP NP 264 TCGA-D1-A160-01 ENDOMETRIUM c.327T>C p.A109A COSMIC NP NP 265 TCGA-D1-A167-01 ENDOMETRIUM c.5066C>A p.P1689H COSMIC NP NP 266 TCGA-D1-A16R-01 ENDOMETRIUM c.4562G>C p.R1521P COSMIC NP NP 267 TCGA-D1-A16Y-01 ENDOMETRIUM c.3619C>T p.R1207C COSMIC NP NP 268 TCGA-D1-A17Q-01 ENDOMETRIUM c.1899A>C p.G633G COSMIC NP NP 269 TCGA-D1-A17Q-01 ENDOMETRIUM c.406G>A p.E136K COSMIC NP NP 270 TCGA-D5-5538-01 LARGE INTESTINE c.2965C>T p.R989* COSMIC NP NP 271 TCGA-D5-5540-01 LARGE INTESTINE c.5017T>C p.Y1673H COSMIC NP NP 272 TCGA-D5-6532-01 LARGE INTESTINE c.3421G>T p.G1141* COSMIC NP NP 273 TCGA-D5-6540-01 LARGE INTESTINE c.1438G>A p.E480K COSMIC NP NP 274 TCGA-D8-A1X8-01 BREAST c.5256_5263delTGTCTTGC p.V1753fs*13 COSMIC NP NP 275 TCGA-D8-A1X8-01 BREAST c.5267_5271delTGCCG p.V1756fs*11 COSMIC NP NP 276 TCGA-D8-A1X8-01 BREAST c.5270_5271insA p.A1758fs*11 COSMIC NP NP 277 TCGA-DC-6681-01 LARGE INTESTINE c.5017T>C p.Y1673H COSMIC NP NP 278 TCGA-DK-A1A3-01 URINARY TRACT c.430G>A p.D144N COSMIC NP NP 279 TCGA-DK-A1A5-01 URINARY TRACT c.3376C>T p.H1126Y COSMIC NP NP 280 TCGA-DK-A1A7-01 URINARY TRACT c.4462G>T p.E1488* COSMIC NP NP 281 TCGA-DK-A2I6-01 URINARY TRACT c.2326G>A p.G776R COSMIC NP NP 282 TCGA-DM-A1DB-01 LARGE INTESTINE c.3384T>C p.C1128C COSMIC NP NP 283 TCGA-DM-A1DB-01 LARGE INTESTINE c.3423A>G p.G1141G COSMIC NP NP 284 TCGA-DM-A28F-01 LARGE INTESTINE c.2994T>A p.C998* COSMIC NP NP 285 TCGA-E2-A14V-01 BREAST c.2992T>C p.C998R COSMIC NP NP 286 TCGA-E2-A1IK-01 BREAST c.6032_6033insA p.H2011fs*6 COSMIC NP NP 287 TCGA-E6-A1LZ-01 ENDOMETRIUM c.2978G>A p.R993Q COSMIC NP NP 288 TCGA-E9-A244-01 BREAST c.61A>C p.N21H COSMIC NP NP 289 TCGA-EI-6506-01 LARGE INTESTINE c.2268T>C p.G756G COSMIC NP NP 290 TCGA-EJ-5498-01 PROSTATE c.1184T>G p.L395W COSMIC NP NP 291 TCGA-EW-A1J5-01 BREAST c.3017G>C p.R1006T COSMIC NP NP 292 TCGA-F4-6805-01 LARGE INTESTINE c.1439A>G p.E480G COSMIC NP NP 293 TCGA-F4-6809-01 LARGE INTESTINE c.3403C>A p.Q1135K COSMIC NP Possibly Damaging 294 TCGA-F5-6813-01 LARGE INTESTINE c.3384T>C p.C1128C COSMIC NP NP 295 TCGA-G4-6309-01 LARGE INTESTINE c.3588A>G p.A1196A COSMIC NP NP 296 TCGA-G4-6317-01 LARGE INTESTINE c.2637T>C p.A879A COSMIC NP NP 297 TMD8 HAEMATOPOIETIC AND LYMPHOID TISSUE c.5752A>G p.T1918A COSMIC NP NP 298 U2932 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1147C>G p.L383V COSMIC PASSENGER/OTHER Benign 299 YUDEXA SKIN c.3298C>T p.H1100Y COSMIC PASSENGER/OTHER Possibly Damaging 300 YUFLA SKIN c.3976C>T p.Q1326* COSMIC NP NP 301 YULAN SKIN c.4775C>T p.P1592L COSMIC NP NP 302 YUPROST SKIN c.3178G>A p.G1060S COSMIC NP Possibly Damaging 303 YUWAND SKIN c.1690C>T p.Q564* COSMIC NP NP 304 cSCCP6 SKIN c.4172C>T p.S1391F COSMIC NP NP 305 ccRCC-102 KIDNEY c.3485A>T p.D1162V COSMIC NP NP 306 ccRCC-106 KIDNEY c.5987T>G p.I1996S COSMIC NP NP 307 ccRCC-14 KIDNEY c.2141G>A p.W714* COSMIC NP NP 308 ccRCC-22 KIDNEY c.1478C>G p.S493* COSMIC NP NP 309 ccRCC-34 KIDNEY c.1311delA p.K438fs*41 COSMIC NP NP 310 ccRCC-34 KIDNEY c.1313delA p.K438fs*41 COSMIC NP NP 311 ccRCC-4 KIDNEY c.3464C>T p.S1155L COSMIC NP NP 312 ccRCC-56 KIDNEY c.5356G>T p.A1786S COSMIC NP NP 313 ccRCC-56 KIDNEY c.5357C>G p.A1786G COSMIC NP NP 314 ccRCC-6 KIDNEY c.1376C>G p.A459G COSMIC NP NP 315 ccRCC-97 KIDNEY c.3340G>C p.A1114P COSMIC NP NP 316 pfg017T STOMACH c.1240delA p.S414fs*5 COSMIC NP NP
*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. -
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 (+)
-
Post Translational Modifications (+)
Post translational modifications are not found!!Other Databases Link (+)
