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 |
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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 (+)
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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 PB018604 Pfam-B_18604 268 533 1.2e-72 PF00856 SET 1561 1667 8.5e-25 PB003607 Pfam-B_3607 1824 2147 2.9e-48 PB002796 Pfam-B_2796 2146 2348 6.1e-53 PF00397 WW 2391 2420 8.2e-10 PF08236 SRI 2466 2558 9.1e-28 2. Superfamily Domains:Domain ID Start Site End Site E-value 0048183 1467 1687 3.14e-69 0038884 2388 2422 2.50e-09 0040938 1284 1340 1.95e-04 -
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. Mutants are not present in CCLE!!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 SETD2 SETD2 SETD2 ENSP00000386759 Q9BYW2 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q9BYW2 SETD2 ENSP00000386759 SETD2 Q9BYW2 Expression Atlas Protein Atlas OMIM IntAct PharmGKB SETD2 ENSP00000386759 612778 Q9BYW2 PA143485612
