| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7454 |
Name | WAS |
Synonymous | IMD2|SCNX|THC|THC1|WASP;Wiskott-Aldrich syndrome (eczema-thrombocytopenia);WAS;Wiskott-Aldrich syndrome (eczema-thrombocytopenia) |
Definition | thrombocytopenia 1 (X-linked)|wiskott-Aldrich syndrome protein |
Position | Xp11.4-p11.21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for WAS | ||
PCGP somatic mutation [Top] | ||
There is no record for WAS | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1378C>A; p.P460T; |
large_intestine | carcinoma; adenocarcinoma |
c.931+2T>G; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.931+2T>G; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.31G>A; p.G11R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.122G>A; p.R41Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.121C>T; p.R41*; |
pancreas | carcinoma; acinar_carcinoma |
c.926G>A; p.R309H; |
oesophagus | carcinoma; adenocarcinoma |
c.870C>G; p.I290M; |
liver | carcinoma |
c.945G>A; p.P315P; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.128G>C; p.C43S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.223G>A; p.V75M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1265C>T; p.A422V; |
skin; trunk | malignant_melanoma |
c.134C>T; p.T45M; |
large_intestine; caecum | adenoma |
c.28C>G; p.P10A; |
ovary | carcinoma; serous_carcinoma |
c.31G>C; p.G11R; |
ovary | carcinoma; serous_carcinoma |
c.31delG; p.G12fs*33; |
ovary | carcinoma; serous_carcinoma |
c.838C>A; p.Q280K; |
autonomic_ganglia | neuroblastoma |
c.762C>A; p.P254P; |
lung | carcinoma; adenocarcinoma |
c.421G>A; p.V141M; |
ovary | carcinoma; serous_carcinoma |
c.107T>A; p.F36Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1456G>A; p.E486K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1249C>T; p.P417S; 23:48432310-48432310 |
ovary | carcinoma; serous_carcinoma |
c.126A>G; p.K42K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1057C>A; p.P353T; |
lung | carcinoma; adenocarcinoma |
c.716G>T; p.G239V; |
lung | carcinoma; squamous_cell_carcinoma |
c.525A>T; p.P175P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.189C>G; p.H63Q; |
breast | carcinoma |
c.1054delC; p.P353fs*92; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.416C>T; p.A139V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.379A>C; p.N127H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1486G>T; p.E496*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.242A>C; p.K81T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.167C>T; p.A56V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.777+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.101G>A; p.R34Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.352G>T; p.A118S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1428G>A; p.K476K; |
breast | carcinoma |
c.789C>T; p.L263L; |
breast | carcinoma |
c.1390G>C; p.E464Q; |
breast | carcinoma |
c.655G>T; p.G219*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.550G>T; p.D184Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.877T>C; p.F293L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.236C>T; p.P79L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.293A>T; p.E98V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.675G>T; p.K225N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1291C>A; p.R431R; |
cervix | carcinoma; squamous_cell_carcinoma |
c.631C>T; p.R211*; |
breast | carcinoma |
c.413G>A; p.R138Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.962G>C; p.R321P; |
urinary_tract; bladder | carcinoma |
c.55C>T; p.Q19*; |
skin | malignant_melanoma |
c.55C>T; p.Q19*; |
skin | malignant_melanoma |