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: WHSC1 |
| Expand All | Collapse All |
-
Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 22RV1 PROSTATE c.1504T>C p.Y502H CCLE PASSENGER/OTHER Probably Damaging 2 253JBV URINARY TRACT c.2893G>C p.A965P CCLE PASSENGER/OTHER Probably Damaging 3 253J URINARY TRACT c.2893G>C p.A965P CCLE PASSENGER/OTHER Probably Damaging 4 BCP1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2043C>G p.L681L CCLE NP NP 5 BICR18 UPPER AERODIGESTIVE TRACT c.2802G>A p.A934A CCLE NP NP 6 C2BBE1 LARGE INTESTINE c.1678G>C p.D560H CCLE PASSENGER/OTHER Benign 7 CGTHW1 THYROID c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 8 CMK115 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2834_2835insC p.G945fs CCLE NP NP 9 COLO818 SKIN c.3331G>A p.E1111K CCLE PASSENGER/OTHER Probably Damaging 10 CW2 LARGE INTESTINE c.2147C>A p.S716* CCLE NP NP 11 CW2 LARGE INTESTINE c.3884T>G p.F1295C CCLE PASSENGER/OTHER Benign 12 DV90 LUNG c.3730C>T p.R1244C CCLE PASSENGER/OTHER Probably Damaging 13 EFO27 OVARY c.4021_4021delC p.P1341fs CCLE NP NP 14 ESS1 ENDOMETRIUM c.3680G>A p.R1227Q CCLE PASSENGER/OTHER Probably Damaging 15 F36P HAEMATOPOIETIC AND LYMPHOID TISSUE c.2458C>T p.R820W CCLE PASSENGER/OTHER Probably Damaging 16 GP2D LARGE INTESTINE c.2445C>A p.A815A CCLE NP NP 17 HCC827 LUNG c.2834_2835insC p.G945fs CCLE NP NP 18 HCT15 LARGE INTESTINE c.4021_4021delC p.P1341fs CCLE NP NP 19 HEC108 ENDOMETRIUM c.1081A>C p.K361Q CCLE PASSENGER/OTHER Benign 20 HEC1A ENDOMETRIUM c.4021_4021delC p.P1341fs CCLE NP NP 21 HEC251 ENDOMETRIUM c.1718A>C p.K573T CCLE PASSENGER/OTHER Possibly Damaging 22 HPBALL HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 23 HPBALL HAEMATOPOIETIC AND LYMPHOID TISSUE c.542A>G p.Q181R CCLE PASSENGER/OTHER Benign 24 ISHIKAWAHERAKLIO02ER ENDOMETRIUM c.1249G>A p.D417N CCLE PASSENGER/OTHER Benign 25 JVM3 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4046A>T p.K1349M CCLE PASSENGER/OTHER Possibly Damaging 26 K562 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1798C>T p.R600* CCLE NP NP 27 KMRC3 KIDNEY c.2834_2835insC p.G945fs CCLE NP NP 28 KP2 PANCREAS c.2834_2835insC p.G945fs CCLE NP NP 29 KYSE150 OESOPHAGUS c.2458C>T p.R820W CCLE PASSENGER/OTHER Probably Damaging 30 KYSE150 OESOPHAGUS c.2957G>A p.R986H CCLE PASSENGER/OTHER Probably Damaging 31 KYSE520 OESOPHAGUS c.2557_2557delT p.F853fs CCLE NP NP 32 LOVO LARGE INTESTINE c.3373_splice p.D1125_splice CCLE NP NP 33 LS411N LARGE INTESTINE c.592_592delA p.K198fs CCLE NP NP 34 MALME3M SKIN c.2908C>T p.R970C CCLE PASSENGER/OTHER Benign 35 MDAPCA2B PROSTATE c.401A>G p.N134S CCLE PASSENGER/OTHER Probably Damaging 36 MFE319 ENDOMETRIUM c.1921T>C p.Y641H CCLE PASSENGER/OTHER Possibly Damaging 37 MM1S HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 38 MOLM6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1081A>C p.K361Q CCLE PASSENGER/OTHER Benign 39 MOLT13 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 40 NCIH1092 LUNG c.2049A>T p.E683D CCLE PASSENGER/OTHER Possibly Damaging 41 NCIH1355 LUNG c.2281C>A p.L761I CCLE PASSENGER/OTHER Probably Damaging 42 NCIH2023 LUNG c.274G>T p.G92C CCLE PASSENGER/OTHER Probably Damaging 43 OC316 OVARY c.3448A>G p.T1150A CCLE PASSENGER/OTHER Probably Damaging 44 PF382 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2802G>A p.A934A CCLE NP NP 45 PFEIFFER HAEMATOPOIETIC AND LYMPHOID TISSUE c.2834_2835insC p.G945fs CCLE NP NP 46 PSN1 PANCREAS c.2132C>A p.A711D CCLE PASSENGER/OTHER Benign 47 RCHACV HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 48 RKO LARGE INTESTINE c.4020_4021insC p.K1340fs CCLE NP NP 49 RPMI8402 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 50 RS411 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 51 SAOS2 BONE c.1502G>A p.R501H CCLE PASSENGER/OTHER Probably Damaging 52 SEM HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 53 SF295 CENTRAL NERVOUS SYSTEM c.2414T>C p.V805A CCLE PASSENGER/OTHER Benign 54 SKMEL5 SKIN c.106C>T p.P36S CCLE PASSENGER/OTHER Benign 55 SKNDZ AUTONOMIC GANGLIA c.2834_2835insC p.G945fs CCLE NP NP 56 SKNSH AUTONOMIC GANGLIA c.2834_2835insC p.G945fs CCLE NP NP 57 SKUT1 SOFT TISSUE c.4021_4021delC p.P1341fs CCLE NP NP 58 SNU1040 LARGE INTESTINE c.2077G>A p.A693T CCLE PASSENGER/OTHER Benign 59 SNU1040 LARGE INTESTINE c.3925G>A p.D1309N CCLE PASSENGER/OTHER Probably Damaging 60 SNU1040 LARGE INTESTINE c.4021_4021delC p.P1341fs CCLE NP NP 61 SNU1040 LARGE INTESTINE c.796T>C p.F266L CCLE PASSENGER/OTHER Possibly Damaging 62 SNU349 KIDNEY c.4021_4021delC p.P1341fs CCLE NP NP 63 SNU407 LARGE INTESTINE c.1903G>A p.E635K CCLE PASSENGER/OTHER Probably Damaging 64 SNU407 LARGE INTESTINE c.2834_2835insC p.G945fs CCLE NP NP 65 SNU407 LARGE INTESTINE c.2992A>G p.K998E CCLE PASSENGER/OTHER Probably Damaging 66 SNU407 LARGE INTESTINE c.3275A>G p.Y1092C CCLE PASSENGER/OTHER Probably Damaging 67 SNU478 BILIARY TRACT c.2834_2835insC p.G945fs CCLE NP NP 68 SNU520 STOMACH c.-17C>T CCLE NP NP 69 SNU520 STOMACH c.4021_4021delC p.P1341fs CCLE NP NP 70 SNU81 LARGE INTESTINE c.2159G>C p.C720S CCLE PASSENGER/OTHER Probably Damaging 71 SNU81 LARGE INTESTINE c.2834_2835insC p.G945fs CCLE NP NP 72 SNU886 LIVER c.2834_2835insC p.G945fs CCLE NP NP 73 SNUC4 LARGE INTESTINE c.2682G>A p.W894* CCLE NP NP 74 SUDHL6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.974G>A p.G325D CCLE PASSENGER/OTHER Probably Damaging 75 SW1417 LARGE INTESTINE c.2831G>A p.R944Q CCLE PASSENGER/OTHER Probably Damaging 76 SW48 LARGE INTESTINE c.2686G>A p.A896T CCLE PASSENGER/OTHER Probably Damaging 77 SW579 THYROID c.3295G>A p.E1099K CCLE PASSENGER/OTHER Probably Damaging 78 TT OESOPHAGUS c.1081A>C p.K361Q CCLE PASSENGER/OTHER Benign 79 VMCUB1 URINARY TRACT c.2411C>T p.S804L CCLE PASSENGER/OTHER Benign 80 YD15 SALIVARY GLAND c.1502G>A p.R501H CCLE PASSENGER/OTHER Probably Damaging 81 001 KIDNEY c.581G>T p.S194I COSMIC PASSENGER/OTHER Possibly Damaging 82 09-859 LARGE INTESTINE c.692C>T p.S231L COSMIC PASSENGER/OTHER Probably Damaging 83 587220 LARGE INTESTINE c.1279G>A p.A427T COSMIC PASSENGER/OTHER Benign 84 587220 LARGE INTESTINE c.275G>A p.G92D COSMIC PASSENGER/OTHER Benign 85 587222 LARGE INTESTINE c.310G>T p.E104* COSMIC NP NP 86 587222 LARGE INTESTINE c.4017G>T p.E1339D COSMIC PASSENGER/OTHER Benign 87 587226 LARGE INTESTINE c.310G>A p.E104K COSMIC PASSENGER/OTHER Probably Damaging 88 587228 LARGE INTESTINE c.1979G>A p.R660Q COSMIC PASSENGER/OTHER Probably Damaging 89 587284 LARGE INTESTINE c.1201C>T p.R401W COSMIC PASSENGER/OTHER Probably Damaging 90 587316 LARGE INTESTINE c.2383G>A p.G795R COSMIC PASSENGER/OTHER Probably Damaging 91 587342 LARGE INTESTINE c.493G>A p.A165T COSMIC PASSENGER/OTHER Benign 92 86507 LUNG c.1756G>C p.A586P COSMIC PASSENGER/OTHER Possibly Damaging 93 86507 LUNG c.3050A>T p.N1017I COSMIC PASSENGER/OTHER Probably Damaging 94 90357 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1356G>A p.R452R COSMIC NP NP 95 CCRF-CEM HAEMATOPOIETIC AND LYMPHOID TISSUE c.2835_2836insC p.S946fs*21 COSMIC NP NP 96 COLO-829 SKIN c.2754C>T p.F918F COSMIC NP NP 97 DLBCL704 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3376C>T p.R1126C COSMIC PASSENGER/OTHER Probably Damaging 98 DLBCL895 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4046A>T p.K1349M COSMIC PASSENGER/OTHER Possibly Damaging 99 ESO-0029 OESOPHAGUS c.1061A>T p.H354L COSMIC PASSENGER/OTHER Benign 100 ESO-141 OESOPHAGUS c.124C>T p.R42C COSMIC PASSENGER/OTHER Probably Damaging 101 ESO-732 OESOPHAGUS c.1740G>A p.S580S COSMIC NP NP 102 ESO-859 OESOPHAGUS c.1937A>G p.E646G COSMIC PASSENGER/OTHER Benign 103 ESO-859 OESOPHAGUS c.3325G>A p.A1109T COSMIC PASSENGER/OTHER Probably Damaging 104 HCC2998 LARGE INTESTINE c.2564C>A p.P855H COSMIC PASSENGER/OTHER Probably Damaging 105 ICGC_MB46 CENTRAL NERVOUS SYSTEM c.3448A>G p.T1150A COSMIC PASSENGER/OTHER Probably Damaging 106 K-562 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1798C>T p.R600* COSMIC NP NP 107 LAU63 SKIN c.141C>T p.F47F COSMIC NP NP 108 LC_C15 LUNG c.295C>T p.R99C COSMIC PASSENGER/OTHER Benign 109 LUAD-D01278 LUNG c.2909G>T p.R970L COSMIC PASSENGER/OTHER Benign 110 LUAD-NYU1096 LUNG c.108G>A p.P36P COSMIC NP NP 111 LUAD-RT-S01702 LUNG c.3295G>A p.E1099K COSMIC PASSENGER/OTHER Probably Damaging 112 LUAD-RT-S01769 LUNG c.3285G>A p.E1095E COSMIC NP NP 113 LUAD-RT-S01808 LUNG c.1322G>T p.R441M COSMIC PASSENGER/OTHER Possibly Damaging 114 LUAD-S01357 LUNG c.2863G>A p.G955R COSMIC PASSENGER/OTHER Probably Damaging 115 LUAD-S01357 LUNG c.3148G>A p.E1050K COSMIC PASSENGER/OTHER Probably Damaging 116 LUAD-YINHD LUNG c.1957G>T p.V653F COSMIC PASSENGER/OTHER Benign 117 MM1S HAEMATOPOIETIC AND LYMPHOID TISSUE c.3295G>A p.E1099K COSMIC PASSENGER/OTHER Probably Damaging 118 NCI-H2009 LUNG c.1685_1686insC p.E563fs*>23 COSMIC NP NP 119 PA285 PANCREAS c.4020_4021insC p.E1344fs*>23 COSMIC NP NP 120 Pa18C PANCREAS c.3873T>G p.P1291P COSMIC NP NP 121 S01512 LUNG c.1596A>G p.I532M COSMIC PASSENGER/OTHER Benign 122 SA097 BREAST c.2738A>G p.H913R COSMIC PASSENGER/OTHER Probably Damaging 123 TCGA-04-1338-01 OVARY c.3259G>C p.E1087Q COSMIC PASSENGER/OTHER Probably Damaging 124 TCGA-05-4389-01 LUNG c.3395C>T p.P1132L COSMIC PASSENGER/OTHER Probably Damaging 125 TCGA-09-0369-01 OVARY c.4000A>C p.R1334R COSMIC NP NP 126 TCGA-10-0938-01 OVARY c.385delA p.T129fs*5 COSMIC NP NP 127 TCGA-24-2280-01 OVARY c.1017G>A p.E339E COSMIC NP NP 128 TCGA-44-6776-01 LUNG c.1887G>T p.S629S COSMIC NP NP 129 TCGA-55-6981-01 LUNG c.3090_3091GG>TC p.E1031Q COSMIC PASSENGER/OTHER Benign 130 TCGA-55-6982-01 LUNG c.3294C>T p.D1098D COSMIC NP NP 131 TCGA-73-4670-01 LUNG c.2593G>T p.G865C COSMIC PASSENGER/OTHER Probably Damaging 132 TCGA-75-7031-01 LUNG c.855A>C p.E285D COSMIC PASSENGER/OTHER Benign 133 TCGA-75-7031-01 LUNG c.858A>G p.G286G COSMIC NP NP 134 TCGA-91-6848-01 LUNG c.2310C>T p.S770S COSMIC NP NP 135 TCGA-97-7554-01 LUNG c.1194G>T p.K398N COSMIC PASSENGER/OTHER Benign 136 TCGA-A3-3374-01 KIDNEY c.62T>A p.M21K COSMIC PASSENGER/OTHER Probably Damaging 137 TCGA-A6-5661-01 LARGE INTESTINE c.1410G>T p.E470D COSMIC PASSENGER/OTHER Possibly Damaging 138 TCGA-A6-5661-01 LARGE INTESTINE c.4020_4021insC p.E1344fs*>23 COSMIC NP NP 139 TCGA-A6-5665-01 LARGE INTESTINE c.1009G>A p.V337M COSMIC PASSENGER/OTHER Possibly Damaging 140 TCGA-A6-5665-01 LARGE INTESTINE c.4020_4021insC p.E1344fs*>23 COSMIC NP NP 141 TCGA-A6-6142-01 LARGE INTESTINE c.4002A>G p.R1334R COSMIC NP NP 142 TCGA-A8-A06R-01 BREAST c.1289A>G p.D430G COSMIC PASSENGER/OTHER Benign 143 TCGA-A8-A07C-01 BREAST c.2027C>G p.P676R COSMIC PASSENGER/OTHER Benign 144 TCGA-A8-A07R-01 BREAST c.1656C>G p.D552E COSMIC PASSENGER/OTHER Benign 145 TCGA-AA-3518-01 LARGE INTESTINE c.1190T>C p.M397T COSMIC PASSENGER/OTHER Benign 146 TCGA-AA-3680-01 LARGE INTESTINE c.1740G>A p.S580S COSMIC NP NP 147 TCGA-AA-3713-01 LARGE INTESTINE c.4021delC p.P1343fs*>23 COSMIC NP NP 148 TCGA-AA-3864-01 LARGE INTESTINE c.1816G>A p.A606T COSMIC PASSENGER/OTHER Benign 149 TCGA-AA-3950-01 LARGE INTESTINE c.3572G>A p.C1191Y COSMIC CANCER Probably Damaging 150 TCGA-AA-3966-01 LARGE INTESTINE c.2028G>A p.P676P COSMIC NP NP 151 TCGA-AA-A00J-01 LARGE INTESTINE c.1127C>A p.S376Y COSMIC PASSENGER/OTHER Possibly Damaging 152 TCGA-AA-A00N-01 LARGE INTESTINE c.1924G>A p.E642K COSMIC PASSENGER/OTHER Probably Damaging 153 TCGA-AA-A01Q-01 LARGE INTESTINE c.548T>G p.L183R COSMIC PASSENGER/OTHER Probably Damaging 154 TCGA-AA-A01R-01 LARGE INTESTINE c.3270C>T p.N1090N COSMIC NP NP 155 TCGA-AA-A022-01 LARGE INTESTINE c.1697C>T p.T566M COSMIC PASSENGER/OTHER Benign 156 TCGA-AD-6964-01 LARGE INTESTINE c.3842C>A p.P1281H COSMIC PASSENGER/OTHER Probably Damaging 157 TCGA-AF-2693-01 LARGE INTESTINE c.3260A>G p.E1087G COSMIC PASSENGER/OTHER Probably Damaging 158 TCGA-AG-A002-01 LARGE INTESTINE c.1936G>A p.E646K COSMIC PASSENGER/OTHER Probably Damaging 159 TCGA-AP-A051-01 ENDOMETRIUM c.2485G>A p.V829I COSMIC PASSENGER/OTHER Possibly Damaging 160 TCGA-AP-A056-01 ENDOMETRIUM c.1922A>G p.Y641C COSMIC PASSENGER/OTHER Possibly Damaging 161 TCGA-AP-A0LM-01 ENDOMETRIUM c.1249G>A p.D417N COSMIC PASSENGER/OTHER Benign 162 TCGA-AP-A0LM-01 ENDOMETRIUM c.125G>A p.R42H COSMIC PASSENGER/OTHER Benign 163 TCGA-AP-A0LM-01 ENDOMETRIUM c.2264G>A p.R755Q COSMIC PASSENGER/OTHER Probably Damaging 164 TCGA-AP-A0LM-01 ENDOMETRIUM c.2580C>T p.I860I COSMIC NP NP 165 TCGA-AP-A0LM-01 ENDOMETRIUM c.3192G>T p.E1064D COSMIC PASSENGER/OTHER Benign 166 TCGA-AP-A0LM-01 ENDOMETRIUM c.3324C>T p.H1108H COSMIC NP NP 167 TCGA-AX-A05Z-01 ENDOMETRIUM c.1627G>A p.D543N COSMIC PASSENGER/OTHER Benign 168 TCGA-AX-A05Z-01 ENDOMETRIUM c.205G>A p.D69N COSMIC PASSENGER/OTHER Possibly Damaging 169 TCGA-AX-A05Z-01 ENDOMETRIUM c.2802G>A p.A934A COSMIC NP NP 170 TCGA-AZ-4315-01 LARGE INTESTINE c.3905C>T p.S1302L COSMIC PASSENGER/OTHER Probably Damaging 171 TCGA-AZ-6598-01 LARGE INTESTINE c.2233delA p.K746fs*4 COSMIC NP NP 172 TCGA-B0-4706-01 KIDNEY c.2374T>C p.Y792H COSMIC PASSENGER/OTHER Probably Damaging 173 TCGA-B5-A0JR-01 ENDOMETRIUM c.1502G>A p.R501H COSMIC PASSENGER/OTHER Probably Damaging 174 TCGA-B5-A0JY-01 ENDOMETRIUM c.229G>A p.D77N COSMIC PASSENGER/OTHER Possibly Damaging 175 TCGA-B5-A11E-01 ENDOMETRIUM c.1577G>T p.R526I COSMIC PASSENGER/OTHER Probably Damaging 176 TCGA-B5-A11E-01 ENDOMETRIUM c.3744C>T p.G1248G COSMIC NP NP 177 TCGA-B5-A11E-01 ENDOMETRIUM c.4057C>T p.R1353W COSMIC PASSENGER/OTHER Probably Damaging 178 TCGA-B5-A11Y-01 ENDOMETRIUM c.778C>T p.R260C COSMIC PASSENGER/OTHER Probably Damaging 179 TCGA-B6-A0I6-01 BREAST c.1777G>A p.A593T COSMIC PASSENGER/OTHER Probably Damaging 180 TCGA-BG-A0M7-01 ENDOMETRIUM c.2271C>T p.F757F COSMIC NP NP 181 TCGA-BH-A0BT-01 BREAST c.3955G>A p.G1319R COSMIC PASSENGER/OTHER Probably Damaging 182 TCGA-BS-A0TJ-01 ENDOMETRIUM c.4072T>C p.W1358R COSMIC PASSENGER/OTHER Benign 183 TCGA-BS-A0UJ-01 ENDOMETRIUM c.2535C>A p.C845* COSMIC NP NP 184 TCGA-BT-A20T-01 URINARY TRACT c.2628G>A p.K876K COSMIC NP NP 185 TCGA-BT-A3PH-01 URINARY TRACT c.787C>T p.H263Y COSMIC PASSENGER/OTHER Probably Damaging 186 TCGA-CA-6717-01 LARGE INTESTINE c.1422G>T p.E474D COSMIC PASSENGER/OTHER Possibly Damaging 187 TCGA-CF-A1HR-01 URINARY TRACT c.3875C>T p.S1292L COSMIC PASSENGER/OTHER Probably Damaging 188 TCGA-CM-4743-01 LARGE INTESTINE c.3379A>G p.I1127V COSMIC PASSENGER/OTHER Probably Damaging 189 TCGA-CM-4743-01 LARGE INTESTINE c.4021delC p.P1343fs*>23 COSMIC NP NP 190 TCGA-CM-6161-01 LARGE INTESTINE c.3260A>G p.E1087G COSMIC PASSENGER/OTHER Probably Damaging 191 TCGA-CM-6167-01 LARGE INTESTINE c.3260A>G p.E1087G COSMIC PASSENGER/OTHER Probably Damaging 192 TCGA-CM-6678-01 LARGE INTESTINE c.1653G>C p.T551T COSMIC NP NP 193 TCGA-CZ-5986-01 KIDNEY c.3932C>T p.T1311I COSMIC PASSENGER/OTHER Benign 194 TCGA-D1-A103-01 ENDOMETRIUM c.2749G>T p.E917* COSMIC NP NP 195 TCGA-D1-A103-01 ENDOMETRIUM c.80T>A p.I27N COSMIC PASSENGER/OTHER Possibly Damaging 196 TCGA-D1-A17Q-01 ENDOMETRIUM c.1804C>T p.R602W COSMIC PASSENGER/OTHER Probably Damaging 197 TCGA-D1-A17Q-01 ENDOMETRIUM c.3683G>A p.R1228H COSMIC PASSENGER/OTHER Probably Damaging 198 TCGA-D5-5538-01 LARGE INTESTINE c.2834_2835insC p.S946fs*21 COSMIC NP NP 199 TCGA-D5-5539-01 LARGE INTESTINE c.1901A>G p.D634G COSMIC PASSENGER/OTHER Probably Damaging 200 TCGA-D5-5539-01 LARGE INTESTINE c.3261A>G p.E1087E COSMIC NP NP 201 TCGA-DK-A1A3-01 URINARY TRACT c.841C>A p.L281I COSMIC PASSENGER/OTHER Possibly Damaging 202 TCGA-DK-A3IL-01 URINARY TRACT c.1574A>G p.K525R COSMIC PASSENGER/OTHER Benign 203 TCGA-DM-A1D6-01 LARGE INTESTINE c.4000A>G p.R1334G COSMIC PASSENGER/OTHER Benign 204 TCGA-DY-A1DD-01 LARGE INTESTINE c.469A>T p.N157Y COSMIC PASSENGER/OTHER Possibly Damaging 205 TCGA-E2-A10C-01 BREAST c.3502G>A p.D1168N COSMIC PASSENGER/OTHER Probably Damaging 206 TCGA-EJ-5504-01 PROSTATE c.3858C>T p.D1286D COSMIC NP NP 207 TCGA-F4-6856-01 LARGE INTESTINE c.3260A>G p.E1087G COSMIC PASSENGER/OTHER Probably Damaging 208 TCGA-G2-A2ES-01 URINARY TRACT c.2672A>G p.Y891C COSMIC PASSENGER/OTHER Probably Damaging 209 WA16 PROSTATE c.3858C>T p.D1286D COSMIC NP NP 210 WA30 PROSTATE c.3255G>C p.K1085N COSMIC PASSENGER/OTHER Probably Damaging 211 YUDUTY SKIN c.3607_3608GG>AA p.G1203K COSMIC PASSENGER/OTHER Probably Damaging 212 YUKLAB SKIN c.2480C>T p.A827V COSMIC PASSENGER/OTHER Benign 213 YUKLAB SKIN c.3787T>C p.Y1263H COSMIC PASSENGER/OTHER Probably Damaging 214 YUWAND SKIN c.2329C>T p.P777S COSMIC PASSENGER/OTHER Benign 215 ccRCC-82 KIDNEY c.997G>A p.A333T 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.test -
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 is not available in PDB -
Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PF00855 PWWP 220 329 1.6e-22 PF00505 HMG_box 457 506 5.1e-09 PB019816 Pfam-B_19816 488 839 1.6e-71 PF00628 PHD 833 874 1.2e-07 PF00855 PWWP 880 967 4.4e-17 PF00856 SET 1074 1180 7.8e-26 PB019816 Pfam-B_19816 1215 1290 0.00047 PB007563 Pfam-B_7563 1234 1323 5.6e-19 PB002825 Pfam-B_2825 1280 1327 3.8e-13 -
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 (+)
-
Post Translational Modifications (+)
S. No. Position Amino acid Type 1 102 S Phosphorylation 2 102 S Phosphorylation 3 110 T Phosphorylation 4 110 T Phosphorylation 5 114 T Phosphorylation 6 114 T Phosphorylation 7 115 T Phosphorylation 8 115 T Phosphorylation 9 121 S Phosphorylation 10 121 S Phosphorylation 11 172 S Phosphorylation 12 175 Y Phosphorylation 13 177 S Phosphorylation 14 376 S Phosphorylation 15 376 S Phosphorylation 16 377 S Phosphorylation 17 380 S Phosphorylation 18 407 S Phosphorylation 19 422 T Phosphorylation 20 437 S Phosphorylation 21 437 S Phosphorylation 22 495 S Phosphorylation 23 544 T Phosphorylation 24 544 T Phosphorylation 25 56 S Phosphorylation 26 580 S Phosphorylation 27 583 S Phosphorylation 28 587 T Phosphorylation 29 779 K Acetylation 30 779 K Acetylation 31 781 K Acetylation 32 781 K Acetylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR WHSC1 WHSC1 WHSC1 ENSP00000308780 O96028 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt O96028 WHSC1 ENSP00000308780 WHSC1 O96028 Expression Atlas Protein Atlas OMIM IntAct PharmGKB WHSC1 ENSP00000308780 602952 O96028 PA37369
