| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5077 |
Name | PAX3 |
Synonymous | CDHS|HUP2|WS1|WS3;paired box 3;PAX3;paired box 3 |
Definition | paired box homeotic gene 3|paired box protein Pax-3|paired domain gene 3|paired domain gene HuP2 |
Position | 2q35-q37|2q35 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PAX3 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PAX3_E10_UTR_3; chr2; 223065258 |
SUB; UTR_3; C; C/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1385C>T; p.P462L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.467G>A; p.R156H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.396A>C; p.E132D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1451+1G>A; p.?; |
skin; abdomen | malignant_melanoma |
c.1388T>A; p.V463D; |
pancreas | carcinoma |
c.808C>T; p.R270C; |
prostate | carcinoma; adenocarcinoma |
c.1507C>G; p.L503V; |
liver | carcinoma; hepatocellular_carcinoma |
c.1122G>A; p.S374S; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1388T>A; p.V463D; |
pancreas | carcinoma; ductal_carcinoma |
c.189C>A; p.A63A; |
lung | carcinoma; adenocarcinoma |
c.1071C>A; p.P357P; |
lung | carcinoma; adenocarcinoma |
c.597C>T; p.P199P; |
lung | carcinoma; adenocarcinoma |
c.844C>G; p.Q282E; |
lung | carcinoma; adenocarcinoma |
c.1465C>T; p.L489F; |
skin; extremity | malignant_melanoma |
c.177C>T; p.I59I; |
pancreas | carcinoma; ductal_carcinoma |
c.867C>G; p.L289L; |
NS | NS |
c.1045G>T; p.D349Y; |
lung | carcinoma; small_cell_carcinoma |
c.707G>A; p.R236H; 2:222805126-222805126 |
ovary | carcinoma; serous_carcinoma |
c.1090T>G; p.S364A; 2:222793186-222793186 |
ovary | carcinoma; serous_carcinoma |
c.933T>C; p.S311S; |
lung | carcinoma; squamous_cell_carcinoma |
c.821G>T; p.W274L; |
lung | carcinoma; squamous_cell_carcinoma |
c.375C>G; p.N125K; 2:222868567-222868567 |
ovary | carcinoma; serous_carcinoma |
c.1061A>T; p.Y354F; 2:222793215-222793215 |
ovary | carcinoma; serous_carcinoma |
c.1442C>A; p.P481Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.381C>A; p.G127G; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.912G>C; p.T304T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1093A>T; p.S365C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1232C>A; p.A411E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1127C>A; p.P376H; |
lung | carcinoma; adenocarcinoma |
c.1462A>G; p.I488V; |
breast | carcinoma |
c.1450G>A; p.A484T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.447G>A; p.P149P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.565G>A; p.D189N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.998C>T; p.P333L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.373A>G; p.N125D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1271C>T; p.T424M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.442G>A; p.V148M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230C>T; p.Y410Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1271C>T; p.T424M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.981C>T; p.T327T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.879delG; p.F294fs*87; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.719G>T; p.R240I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230C>T; p.Y410Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.195C>T; p.H65H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.110G>A; p.R37H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.806A>G; p.N269S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.812G>A; p.R271H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1060T>C; p.Y354H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1028C>T; p.T343M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.202C>T; p.R68W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1075A>C; p.T359P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.720A>G; p.R240R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.659G>A; p.R220H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1361G>T; p.S454I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1087T>A; p.F363I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1230C>T; p.Y410Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1215G>A; p.Q405Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1275G>T; p.V425V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.688C>A; p.Q230K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.373A>G; p.N125D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.230G>A; p.R77H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.433C>T; p.R145*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.247G>A; p.V83I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.829C>T; p.Q277*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.590C>T; p.S197L; |
urinary_tract; bladder | carcinoma |
c.1091C>A; p.S364Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.18C>T; p.G6G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.707G>A; p.R236H; 2:222805126-222805126 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.374A>G; p.N125S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1249G>A; p.G417R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1459C>G; p.Q487E; |
urinary_tract; bladder | carcinoma |
c.785G>A; p.R262Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1413T>C; p.Y471Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.836G>A; p.G279E; |
urinary_tract; bladder | carcinoma |
c.1366A>G; p.T456A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.658C>T; p.R220C; |
stomach | adenocarcinoma |