| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7468 |
Name | WHSC1 |
Synonymous | MMSET|NSD2|REIIBP|TRX5|WHS;Wolf-Hirschhorn syndrome candidate 1;WHSC1;Wolf-Hirschhorn syndrome candidate 1 |
Definition | IL5 promoter REII region-binding protein|multiple myeloma SET domain containing protein type III|nuclear SET domain-containing protein 2|probable histone-lysine N-methyltransferase NSD2|trithorax/ash1-related protein 5 |
Position | 4p16.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for WHSC1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
WHSC1_E1099K; chr4; 1962801 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.581G>T; p.S194I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.692C>T; p.S231L; |
large_intestine | carcinoma; adenocarcinoma |
c.275G>A; p.G92D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1279G>A; p.A427T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.310G>T; p.E104*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4017G>T; p.E1339D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.310G>A; p.E104K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1979G>A; p.R660Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1201C>T; p.R401W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2383G>A; p.G795R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.493G>A; p.A165T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1756G>C; p.A586P; |
lung | carcinoma; adenocarcinoma |
c.3050A>T; p.N1017I; |
lung | carcinoma; adenocarcinoma |
c.1356G>A; p.R452R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2835_2836insC; p.S946fs*21; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2754C>T; p.F918F; 4:1927586-1927586 |
skin | malignant_melanoma |
c.2754C>T; p.F918F; 4:1927586-1927586 |
skin | malignant_melanoma |
c.3376C>T; p.R1126C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4046A>T; p.K1349M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1061A>T; p.H354L; |
oesophagus | carcinoma; adenocarcinoma |
c.124C>T; p.R42C; |
oesophagus | carcinoma; adenocarcinoma |
c.1740G>A; p.S580S; |
oesophagus | carcinoma; adenocarcinoma |
c.1937A>G; p.E646G; |
oesophagus | carcinoma; adenocarcinoma |
c.3325G>A; p.A1109T; |
oesophagus | carcinoma; adenocarcinoma |
c.2564C>A; p.P855H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3448A>G; p.T1150A; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1798C>T; p.R600*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.141C>T; p.F47F; |
skin; trunk | malignant_melanoma; nodular |
c.107_119del?; p.?; |
skin; trunk | malignant_melanoma; nodular |
c.295C>T; p.R99C; |
lung | carcinoma; adenocarcinoma |
c.2909G>T; p.R970L; |
lung | carcinoma; adenocarcinoma |
c.108G>A; p.P36P; |
lung | carcinoma; adenocarcinoma |
c.3295G>A; p.E1099K; |
lung | carcinoma; adenocarcinoma |
c.3285G>A; p.E1095E; |
lung | carcinoma; adenocarcinoma |
c.1322G>T; p.R441M; |
lung | carcinoma; adenocarcinoma |
c.2863G>A; p.G955R; |
lung | carcinoma; adenocarcinoma |
c.3148G>A; p.E1050K; |
lung | carcinoma; adenocarcinoma |
c.1957G>T; p.V653F; |
lung | carcinoma; adenocarcinoma |
c.3295G>A; p.E1099K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1685_1686insC; p.E563fs*>23; 4:1950364-1950365 |
lung | carcinoma; non_small_cell_carcinoma |
c.4020_4021insC; p.E1344fs*>23; |
pancreas | carcinoma; ductal_carcinoma |
c.3873T>G; p.P1291P; |
pancreas | NS |
c.1596A>G; p.I532M; |
lung | carcinoma; small_cell_carcinoma |
c.2738A>G; p.H913R; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3259G>C; p.E1087Q; 4:1932563-1932563 |
ovary | carcinoma; serous_carcinoma |
c.3395C>T; p.P1132L; |
lung | carcinoma; adenocarcinoma |
c.4000A>C; p.R1334R; 4:1950336-1950336 |
ovary | carcinoma; serous_carcinoma |
c.385delA; p.T129fs*5; 4:1872564-1872564 |
ovary | carcinoma; serous_carcinoma |
c.1017G>A; p.E339E; |
ovary | carcinoma; serous_carcinoma |
c.1887G>T; p.S629S; |
lung | carcinoma; adenocarcinoma |
c.3090_3091GG>TC; p.E1031Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3294C>T; p.D1098D; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2593G>T; p.G865C; |
lung | carcinoma; adenocarcinoma |
c.858A>G; p.G286G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.855A>C; p.E285D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2310C>T; p.S770S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1194G>T; p.K398N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.62T>A; p.M21K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4020_4021insC; p.E1344fs*>23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1410G>T; p.E470D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4020_4021insC; p.E1344fs*>23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1009G>A; p.V337M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4002A>G; p.R1334R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1289A>G; p.D430G; |
breast | carcinoma |
c.2027C>G; p.P676R; |
breast | carcinoma |
c.1656C>G; p.D552E; |
breast | carcinoma |
c.1190T>C; p.M397T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1740G>A; p.S580S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4021delC; p.P1343fs*>23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1816G>A; p.A606T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3572G>A; p.C1191Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2028G>A; p.P676P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1127C>A; p.S376Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1924G>A; p.E642K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.548T>G; p.L183R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3270C>T; p.N1090N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1697C>T; p.T566M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3842C>A; p.P1281H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3260A>G; p.E1087G; |
large_intestine; rectum | NS |
c.1936G>A; p.E646K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2485G>A; p.V829I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1922A>G; p.Y641C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.125G>A; p.R42H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1249G>A; p.D417N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2264G>A; p.R755Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2580C>T; p.I860I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3192G>T; p.E1064D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3324C>T; p.H1108H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.205G>A; p.D69N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1627G>A; p.D543N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2802G>A; p.A934A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3905C>T; p.S1302L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2233delA; p.K746fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2374T>C; p.Y792H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1502G>A; p.R501H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.229G>A; p.D77N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1577G>T; p.R526I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3744C>T; p.G1248G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4057C>T; p.R1353W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.778C>T; p.R260C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1777G>A; p.A593T; |
breast | carcinoma |
c.2271C>T; p.F757F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3955G>A; p.G1319R; |
breast | carcinoma |
c.4072T>C; p.W1358R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2535C>A; p.C845*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2628G>A; p.K876K; |
urinary_tract; bladder | carcinoma |
c.787C>T; p.H263Y; |
urinary_tract; bladder | carcinoma |
c.1422G>T; p.E474D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2676-1G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3875C>T; p.S1292L; |
urinary_tract; bladder | carcinoma |
c.3379A>G; p.I1127V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4021delC; p.P1343fs*>23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3260A>G; p.E1087G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3260A>G; p.E1087G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1653G>C; p.T551T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3932C>T; p.T1311I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.80T>A; p.I27N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2749G>T; p.E917*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1804C>T; p.R602W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3683G>A; p.R1228H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2834_2835insC; p.S946fs*21; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1901A>G; p.D634G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3261A>G; p.E1087E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.841C>A; p.L281I; |
urinary_tract; bladder | carcinoma |
c.1574A>G; p.K525R; |
urinary_tract; bladder | carcinoma |
c.4000A>G; p.R1334G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.469A>T; p.N157Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3502G>A; p.D1168N; |
breast | carcinoma |
c.3858C>T; p.D1286D; |
prostate | carcinoma; adenocarcinoma |
c.3260A>G; p.E1087G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2672A>G; p.Y891C; |
urinary_tract; bladder | carcinoma |
c.3858C>T; p.D1286D; |
prostate | carcinoma |
c.3255G>C; p.K1085N; |
prostate | carcinoma |
c.3607_3608GG>AA; p.G1203K; |
skin | malignant_melanoma |
c.2480C>T; p.A827V; |
skin | malignant_melanoma |
c.3787T>C; p.Y1263H; |
skin | malignant_melanoma |
c.2329C>T; p.P777S; |
skin; mucosal | malignant_melanoma |
c.997G>A; p.A333T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |