| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 23286 |
Name | WWC1 |
Synonymous | HBEBP3|HBEBP36|KIBRA;WW and C2 domain containing 1;WWC1;WW and C2 domain containing 1 |
Definition | HBeAg-binding protein 3|WW, C2 and coiled-coil domain containing 1|kidney and brain protein|protein KIBRA|protein WWC1 |
Position | 5q34 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for WWC1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
WWC1_V134I; chr5; 167812386 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; WGS |
WWC1_W59*; chr5; 167798486 |
SUB; NONSENSE; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3266A>T; p.Q1089L; |
liver | carcinoma; hepatocellular_carcinoma |
c.3238C>T; p.Q1080*; |
NS | malignant_melanoma |
c.1127delG; p.L377fs*16; |
NS | malignant_melanoma |
c.3238C>T; p.Q1080*; |
NS | malignant_melanoma |
c.1127delG; p.L377fs*16; |
NS | malignant_melanoma |
c.1150_1151insT; p.A384fs*18; |
NS | malignant_melanoma |
c.309C>T; p.A103A; |
skin; upper_leg | malignant_melanoma |
c.310C>T; p.Q104*; |
skin; upper_leg | malignant_melanoma |
c.344A>G; p.Q115R; |
lung | carcinoma; small_cell_carcinoma |
c.1981C>T; p.R661*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.481A>G; p.K161E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1783G>A; p.G595R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2331G>A; p.S777S; |
oesophagus | carcinoma; adenocarcinoma |
c.1-1G>C; p.?; 5:167651735-167651735 |
breast | carcinoma; ductal_carcinoma |
c.1431G>T; p.L477L; |
liver | carcinoma |
c.1218G>A; p.V406V; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.1784G>T; p.G595V; |
lung | carcinoma; adenocarcinoma |
c.2693C>T; p.P898L; |
lung | carcinoma; adenocarcinoma |
c.361C>T; p.L121L; |
lung | carcinoma; adenocarcinoma |
c.2562C>T; p.A854A; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.120G>C; p.R40S; |
skin; extremity | malignant_melanoma |
c.536T>C; p.V179A; |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV |
c.229+5G>T; p.?; |
liver | carcinoma |
c.151A>G; p.I51V; |
lung | carcinoma; small_cell_carcinoma |
c.624C>A; p.S208R; |
lung | carcinoma; small_cell_carcinoma |
c.914G>A; p.R305H; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3160C>T; p.R1054*; |
central_nervous_system; brain | glioma |
c.2339G>A; p.W780*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1709C>G; p.P570R; |
lung | carcinoma; adenocarcinoma |
c.2948G>A; p.R983H; 5:167824343-167824343 |
ovary | carcinoma; serous_carcinoma |
c.2698C>A; p.P900T; |
lung | carcinoma; squamous_cell_carcinoma |
c.3186G>A; p.Q1062Q; 5:167827458-167827458 |
ovary | carcinoma; serous_carcinoma |
c.2815G>T; p.V939L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1387A>G; p.T463A; |
lung | carcinoma; adenocarcinoma |
c.1484C>G; p.S495*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2216T>G; p.L739R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1031T>C; p.I344T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1479G>T; p.R493R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1984A>G; p.I662V; |
lung | carcinoma; squamous_cell_carcinoma |
c.557A>C; p.Q186P; |
ovary | carcinoma; serous_carcinoma |
c.1686C>T; p.L562L; |
lung | carcinoma; adenocarcinoma |
c.2617G>T; p.E873*; |
lung | carcinoma; adenocarcinoma |
c.1861G>A; p.A621T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3022G>T; p.E1008*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1873G>A; p.E625K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.513C>T; p.V171V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2596_2598delGGA; p.G866delG; |
breast | carcinoma |
c.1975G>A; p.A659T; |
breast | carcinoma |
c.1485A>G; p.S495S; |
breast | carcinoma |
c.494C>T; p.A165V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1752C>T; p.S584S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2809C>A; p.Q937K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.796C>G; p.L266V; |
breast | carcinoma |
c.2582T>A; p.V861E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2585A>T; p.E862V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.758delG; p.S255fs*26; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.370G>T; p.A124S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1820C>T; p.T607M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2722C>T; p.R908W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2239G>A; p.D747N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1982G>T; p.R661L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2650G>A; p.A884T; |
breast | carcinoma |
c.1225C>A; p.L409M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1471G>A; p.G491S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1956C>T; p.D652D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.228C>A; p.T76T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1982G>A; p.R661Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1520C>A; p.A507D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2097C>T; p.R699R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.336G>A; p.E112E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3184C>A; p.Q1062K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3030G>A; p.S1010S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2668G>T; p.E890*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.770C>T; p.S257L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2602G>T; p.E868*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2789T>C; p.F930S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1863C>T; p.A621A; |
urinary_tract; bladder | carcinoma |
c.3185A>G; p.Q1062R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3185A>G; p.Q1062R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.387G>A; p.Q129Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1036G>A; p.E346K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1811C>T; p.A604V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1376C>A; p.S459*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3294C>T; p.F1098F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2957G>A; p.R986H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2010G>C; p.E670D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3122G>A; p.R1041H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2948G>C; p.R983P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.862G>A; p.G288R; |
urinary_tract; bladder | carcinoma |
c.148T>A; p.C50S; |
breast | carcinoma |
c.1753G>A; p.A585T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2915G>A; p.R972Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3184C>T; p.Q1062*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.502A>G; p.K168E; |
prostate | carcinoma |
c.1822G>A; p.A608T; |
skin | malignant_melanoma |
c.1009G>A; p.E337K; |
skin | malignant_melanoma |
c.250_251CC>TT; p.P84F; |
skin | malignant_melanoma |
c.2335C>T; p.R779C; |
skin | malignant_melanoma |