Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

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

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

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

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

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

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

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

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - 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.85G>A; p.G29S; 17:41771770-41771770

 skinmalignant_melanomaSubstitution - Missense

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

 central_nervous_system; braingliomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 ovarycarcinoma; serous_carcinomaDeletion - In frame

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

 skinmalignant_melanomaSubstitution - coding silent

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

 skinmalignant_melanomaSubstitution - Missense

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

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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

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

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 breastcarcinomaSubstitution - coding silent

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

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

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

 skin; mucosalmalignant_melanomaSubstitution - Missense

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

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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

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

 urinary_tract; bladdercarcinomaSubstitution - coding silent

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

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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

 skinmalignant_melanomaSubstitution - coding silent

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

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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

 urinary_tract; bladdercarcinomaSubstitution - Missense

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

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

 livercarcinomaNonstop extension

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

 livercarcinomaNonstop extension

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 livercarcinomaNonstop extension

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

 urinary_tract; bladdercarcinomaSubstitution - coding silent

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

 peritoneum; appendixother; pseudomyxoma_peritoneiDeletion - In frame

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

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

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

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

 livercarcinomaSubstitution - coding silent

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

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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

 skinmalignant_melanomaSubstitution - Missense

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

 livercarcinomaSubstitution - Missense

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

 livercarcinomaSubstitution - Missense

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

 breastcarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

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

 breastcarcinoma; ductal_carcinomaDeletion - In frame

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

 skinmalignant_melanomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

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

 breastcarcinomaSubstitution - coding silent

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

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

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

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 livercarcinomaSubstitution - coding silent

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

 livercarcinomaSubstitution - coding silent

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 pancreascarcinomaSubstitution - Missense

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

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

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

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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

 urinary_tract; bladdercarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

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

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

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

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

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

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

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

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - 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.1459A>C; p.K487Q; 17:41763021-41763021

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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

 skinmalignant_melanomaSubstitution - coding silent

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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

 urinary_tract; bladdercarcinomaSubstitution - coding silent

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

 skinmalignant_melanomaSubstitution - coding silent

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