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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

3728

Name

JUP

Synonymous

junction plakoglobin;JUP;junction plakoglobin

Definition

catenin (cadherin-associated protein), gamma 80kDa|desmoplakin III|desmoplakin-3

Position

17q21

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1179G>A; p.L393L; 17:41763301-41763301

breastcarcinomaSubstitution - coding silent

c.538A>T; p.M180L; 17:41769138-41769138

breastcarcinomaSubstitution - Missense

c.119_160del42; p.K40_Y53del14; 17:41771695-41771736

breastcarcinoma; ductal_carcinomaDeletion - In frame

c.1287G>C; p.V429V; 17:41763193-41763193

breastcarcinomaSubstitution - coding silent

c.1730G>A; p.R577H; 17:41758442-41758442

central_nervous_system; braingliomaSubstitution - Missense

c.1217A>G; p.N406S; 17:41763263-41763263

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.675G>A; p.S225S; 17:41769001-41769001

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1365C>T; p.A455A; 17:41763115-41763115

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1140A>C; p.S380S; 17:41764731-41764731

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1299C>T; p.S433S; 17:41763181-41763181

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2062C>T; p.P688S; 17:41756199-41756199

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1286T>C; p.V429A; 17:41763194-41763194

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.891C>T; p.Y297Y; 17:41767397-41767397

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1198C>G; p.L400V; 17:41763282-41763282

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.959G>A; p.R320H; 17:41765018-41765018

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1633G>T; p.G545C; 17:41758735-41758735

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1711G>A; p.A571T; 17:41758461-41758461

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1681G>T; p.E561*; 17:41758491-41758491

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.778G>A; p.A260T; 17:41767510-41767510

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.778G>A; p.A260T; 17:41767510-41767510

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1804C>T; p.R602C; 17:41757754-41757754

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1540A>G; p.N514D; 17:41758828-41758828

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1995C>T; p.S665S; 17:41757466-41757466

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.571C>T; p.R191C; 17:41769105-41769105

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1365C>T; p.A455A; 17:41763115-41763115

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.321G>C; p.E107D; 17:41769565-41769565

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.177C>T; p.T59T; 17:41771678-41771678

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1459A>C; p.K487Q; 17:41763021-41763021

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.201_202insC; p.S68fs*4; 17:41771653-41771654

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.337C>A; p.L113M; 17:41769549-41769549

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1932C>T; p.Y644Y; 17:41757529-41757529

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.67G>A; p.D23N; 17:41771788-41771788

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1817G>A; p.G606E; 17:41757741-41757741

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1456G>A; p.V486M; 17:41763024-41763024

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1567G>A; p.V523I; 17:41758801-41758801

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2104C>T; p.R702C; 17:41755878-41755878

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.412G>A; p.E138K; 17:41769474-41769474

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.942C>T; p.A314A; 17:41765035-41765035

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1364C>T; p.A455V; 17:41763116-41763116

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.51G>A; p.Q17Q; 17:41771804-41771804

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1693G>A; p.G565R; 17:41758479-41758479

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1858G>A; p.A620T; 17:41757700-41757700

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1623C>T; p.H541H; 17:41758745-41758745

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1331G>A; p.R444H; 17:41763149-41763149

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1652C>T; p.T551M; 17:41758716-41758716

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.722C>T; p.S241L; 17:41767566-41767566

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570G>A; p.V190V; 17:41769106-41769106

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.570G>A; p.V190V; 17:41769106-41769106

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.570G>A; p.V190V; 17:41769106-41769106

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2175delC; p.I726fs*>20; 17:41755807-41755807

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.777C>T; p.G259G; 17:41767511-41767511

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1371C>T; p.C457C; 17:41763109-41763109

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1074C>T; p.G358G; 17:41764797-41764797

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.582G>A; p.Q194Q; 17:41769094-41769094

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1822C>T; p.L608L; 17:41757736-41757736

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.925A>G; p.N309D; 17:41765052-41765052

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1988G>A; p.R663H; 17:41757473-41757473

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1669G>T; p.E557*; 17:41758503-41758503

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.590G>A; p.S197N; 17:41769086-41769086

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1238G>A; p.G413D; 17:41763242-41763242

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.171A>G; p.K57K; 17:41771684-41771684

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.374C>T; p.S125L; 17:41769512-41769512

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1565C>T; p.A522V; 17:41758803-41758803

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1608G>T; p.Q536H; 17:41758760-41758760

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.938A>G; p.Q313R; 17:41765039-41765039

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1356G>A; p.T452T; 17:41763124-41763124

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2236T>A; p.*746K; 17:41755746-41755746

livercarcinomaNonstop extension

c.2236T>A; p.*746K; 17:41755746-41755746

livercarcinomaNonstop extension

c.2236T>A; p.*746K; 17:41755746-41755746

livercarcinomaNonstop extension

c.1941C>T; p.A647A; 17:41757520-41757520

livercarcinomaSubstitution - coding silent

c.1784C>T; p.S595L; 17:41757774-41757774

livercarcinomaSubstitution - Missense

c.1784C>T; p.S595L; 17:41757774-41757774

livercarcinomaSubstitution - Missense

c.2184C>T; p.T728T; 17:41755798-41755798

livercarcinomaSubstitution - coding silent

c.2184C>T; p.T728T; 17:41755798-41755798

livercarcinomaSubstitution - coding silent

c.2067C>T; p.I689I; 17:41756194-41756194

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1300G>T; p.G434C; 17:41763180-41763180

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1950C>T; p.F650F; 17:41757511-41757511

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.607C>T; p.R203C; 17:41769069-41769069

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2225A>G; p.H742R; 17:41755757-41755757

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.453C>G; p.L151L; 17:41769433-41769433

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.712C>T; p.P238S; 17:41767576-41767576

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.191G>C; p.G64A; 17:41771664-41771664

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2023C>A; p.H675N; 17:41757438-41757438

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1220T>C; p.V407A; 17:41763260-41763260

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1745G>A; p.R582Q; 17:41758427-41758427

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2071_2073delGAG; p.E691delE; 17:41756188-41756190

ovarycarcinoma; serous_carcinomaDeletion - In frame

c.1244T>A; p.L415H; 17:41763236-41763236

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1544A>C; p.H515P; 17:41758824-41758824

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1469A>G; p.N490S; 17:41763011-41763011

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.197C>T; p.P66L; 17:41771658-41771658

pancreascarcinomaSubstitution - Missense

c.979_984delCTGCTC; p.L327_L328delLL; 17:41764993-41764998

peritoneum; appendixother; pseudomyxoma_peritoneiDeletion - In frame

c.1729C>T; p.R577C; 17:41758443-41758443

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1400C>A; p.P467H; 17:41763080-41763080

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2151C>T; p.H717H; 17:41755831-41755831

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.85G>A; p.G29S; 17:41771770-41771770

skinmalignant_melanomaSubstitution - Missense

c.2118C>T; p.S706S; 17:41755864-41755864

skinmalignant_melanomaSubstitution - coding silent

c.1455C>T; p.I485I; 17:41763025-41763025

skinmalignant_melanomaSubstitution - coding silent

c.2076C>T; p.P692P; 17:41756185-41756185

skinmalignant_melanomaSubstitution - coding silent

c.107C>T; p.S36F; 17:41771748-41771748

skinmalignant_melanomaSubstitution - Missense

c.168G>A; p.K56K; 17:41771687-41771687

skinmalignant_melanomaSubstitution - coding silent

c.935C>T; p.P312L; 17:41765042-41765042

skinmalignant_melanomaSubstitution - Missense

c.1729C>T; p.R577C; 17:41758443-41758443

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.672G>A; p.K224K; 17:41769004-41769004

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1728C>T; p.N576N; 17:41758444-41758444

skinmalignant_melanomaSubstitution - coding silent

c.113G>A; p.S38N; 17:41771742-41771742

skinmalignant_melanomaSubstitution - Missense

c.104C>T; p.P35L; 17:41771751-41771751

skin; mucosalmalignant_melanomaSubstitution - Missense

c.2013C>T; p.S671S; 17:41757448-41757448

skinmalignant_melanomaSubstitution - coding silent

c.2041G>A; p.E681K; 17:41757420-41757420

skinmalignant_melanomaSubstitution - Missense

c.638C>T; p.S213F; 17:41769038-41769038

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.199C>T; p.P67S; 17:41771656-41771656

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1137C>T; p.L379L; 17:41764734-41764734

skinmalignant_melanomaSubstitution - coding silent

c.1480C>A; p.Q494K; 17:41763000-41763000

skinmalignant_melanomaSubstitution - Missense

c.1017C>T; p.S339S; 17:41764960-41764960

skinmalignant_melanomaSubstitution - coding silent

c.973G>A; p.E325K; 17:41765004-41765004

skinmalignant_melanomaSubstitution - Missense

c.893G>A; p.G298D; 17:41767395-41767395

skinmalignant_melanomaSubstitution - Missense

c.711C>T; p.S237S; 17:41767577-41767577

skinmalignant_melanomaSubstitution - coding silent

c.510G>A; p.S170S; 17:41769166-41769166

skinmalignant_melanomaSubstitution - coding silent

c.1026C>T; p.P342P; 17:41764951-41764951

skinmalignant_melanomaSubstitution - coding silent

c.1735G>A; p.E579K; 17:41758437-41758437

skinmalignant_melanomaSubstitution - Missense

c.1099C>T; p.R367C; 17:41764772-41764772

skinmalignant_melanomaSubstitution - Missense

c.2116T>C; p.S706P; 17:41755866-41755866

skinmalignant_melanomaSubstitution - Missense

c.2130C>T; p.P710P; 17:41755852-41755852

skinmalignant_melanomaSubstitution - coding silent

c.356C>T; p.P119L; 17:41769530-41769530

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1446_1447CC>TT; p.P483S; 17:41763033-41763034

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.424C>T; p.R142C; 17:41769462-41769462

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1016C>T; p.S339F; 17:41764961-41764961

skinmalignant_melanomaSubstitution - Missense

c.1995C>T; p.S665S; 17:41757466-41757466

skinmalignant_melanomaSubstitution - coding silent

c.1995C>T; p.S665S; 17:41757466-41757466

skinmalignant_melanomaSubstitution - coding silent

c.647G>A; p.R216Q; 17:41769029-41769029

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.794G>A; p.R265H; 17:41767494-41767494

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1206G>T; p.V402V; 17:41763274-41763274

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.485C>T; p.A162V; 17:41769191-41769191

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1618C>T; p.R540C; 17:41758750-41758750

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.749T>C; p.L250P; 17:41767539-41767539

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.979C>A; p.L327M; 17:41764998-41764998

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1217A>G; p.N406S; 17:41763263-41763263

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.908A>C; p.K303T; 17:41767380-41767380

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1979A>G; p.Y660C; 17:41757482-41757482

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.R84Q; 17:41769635-41769635

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.746C>T; p.T249M; 17:41767542-41767542

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.436G>A; p.E146K; 17:41769450-41769450

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.A187T; 17:41769117-41769117

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.946G>A; p.V316M; 17:41765031-41765031

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1141G>T; p.D381Y; 17:41764730-41764730

thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.2199C>T; p.L733L; 17:41755783-41755783

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.537G>A; p.L179L; 17:41769139-41769139

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.193G>A; p.V65M; 17:41771662-41771662

urinary_tract; bladdercarcinomaSubstitution - Missense

c.738C>T; p.A246A; 17:41767550-41767550

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1182G>C; p.K394N; 17:41763298-41763298

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1458G>A; p.V486V; 17:41763022-41763022

urinary_tract; bladdercarcinomaSubstitution - coding silent