| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3728 |
Name | JUP |
Synonymous | ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB;junction plakoglobin;JUP;junction plakoglobin |
Definition | catenin (cadherin-associated protein), gamma (80kD)|catenin (cadherin-associated protein), gamma 80kDa|catenin gamma|desmoplakin III|desmoplakin-3|gamma-catenin |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for JUP | ||
PCGP somatic mutation [Top] | ||
There is no record for JUP | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.607C>T; p.R203C; 17:37178847-37178847 |
lung | carcinoma; adenocarcinoma |
c.712C>T; p.P238S; 17:37177354-37177354 |
lung | carcinoma; adenocarcinoma |
c.1331G>A; p.R444H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1858G>A; p.A620T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.925A>G; p.N309D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2236T>A; p.*746K; |
liver | carcinoma |
c.1220T>C; p.V407A; |
oesophagus | carcinoma; adenocarcinoma |
c.1745G>A; p.R582Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1784C>T; p.S595L; |
liver | carcinoma |
c.119_160del42; p.K40_Y53del14; 17:37181473-37181514 |
breast | carcinoma; ductal_carcinoma |
c.2184C>T; p.T728T; |
liver | carcinoma |
c.2199C>T; p.L733L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.675G>A; p.S225S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1941C>T; p.A647A; |
liver | carcinoma |
c.2071_2073delGAG; p.E691delE; 17:37165966-37165968 |
ovary | carcinoma; serous_carcinoma |
c.1544A>C; p.H515P; |
ovary | carcinoma; serous_carcinoma |
c.1300G>T; p.G434C; |
lung | carcinoma; adenocarcinoma |
c.1469A>G; p.N490S; 17:37172789-37172789 |
ovary | carcinoma; serous_carcinoma |
c.2225A>G; p.H742R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1244T>A; p.L415H; |
ovary | carcinoma; serous_carcinoma |
c.1950C>T; p.F650F; |
lung | carcinoma; squamous_cell_carcinoma |
c.453C>G; p.L151L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.191G>C; p.G64A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2067C>T; p.I689I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2023C>A; p.H675N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1459A>C; p.K487Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.590G>A; p.S197N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1822C>T; p.L608L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1356G>A; p.T452T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2175delC; p.I726fs*>20; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.938A>G; p.Q313R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1608G>T; p.Q536H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2062C>T; p.P688S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1299C>T; p.S433S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.778G>A; p.A260T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1540A>G; p.N514D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1198C>G; p.L400V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.778G>A; p.A260T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.337C>A; p.L113M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1988G>A; p.R663H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1633G>T; p.G545C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1140A>C; p.S380S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1179G>A; p.L393L; |
breast | carcinoma |
c.1287G>C; p.V429V; |
breast | carcinoma |
c.177C>T; p.T59T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1286T>C; p.V429A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.777C>T; p.G259G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.959G>A; p.R320H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.891C>T; p.Y297Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1995C>T; p.S665S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1711G>A; p.A571T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1804C>T; p.R602C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1681G>T; p.E561*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1932C>T; p.Y644Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.738C>T; p.A246A; |
urinary_tract; bladder | carcinoma |
c.537G>A; p.L179L; |
urinary_tract; bladder | carcinoma |
c.171A>G; p.K57K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1669G>T; p.E557*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1817G>A; p.G606E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1458G>A; p.V486V; |
urinary_tract; bladder | carcinoma |
c.2116T>C; p.S706P; |
skin | malignant_melanoma |
c.2118C>T; p.S706S; |
skin | malignant_melanoma |
c.935C>T; p.P312L; |
skin | malignant_melanoma |
c.104C>T; p.P35L; |
skin; mucosal | malignant_melanoma |