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

Basic Information

Gene ID

2697

Name

GJA1

Synonymous

gap junction protein, alpha 1, 43kDa;GJA1;gap junction protein, alpha 1, 43kDa

Definition

connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein

Position

6q22.31

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 0.10.

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.956G>A; p.R319Q; 6:121447803-121447803

 breastcarcinomaSubstitution - Missense

c.293A>C; p.Y98S; 6:121447140-121447140

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.293A>C; p.Y98S; 6:121447140-121447140

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.301C>T; p.R101*; 6:121447148-121447148

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.380T>G; p.L127W; 6:121447227-121447227

 breastcarcinomaSubstitution - Missense

c.342G>T; p.K114N; 6:121447189-121447189

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.803T>C; p.F268S; 6:121447650-121447650

 skinmalignant_melanomaSubstitution - Missense

c.675C>A; p.I225I; 6:121447522-121447522

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1075G>T; p.V359L; 6:121447922-121447922

 central_nervous_system; braingliomaSubstitution - Missense

c.1108C>A; p.R370S; 6:121447955-121447955

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.433G>T; p.V145L; 6:121447280-121447280

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.A276T; 6:121447673-121447673

 livercarcinomaSubstitution - Missense

c.990C>T; p.S330S; 6:121447837-121447837

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.50A>G; p.Y17C; 6:121446897-121446897

 breastcarcinomaSubstitution - Missense

c.826G>A; p.A276T; 6:121447673-121447673

 livercarcinomaSubstitution - Missense

c.896G>A; p.R299H; 6:121447743-121447743

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1085G>A; p.R362Q; 6:121447932-121447932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157C>G; p.R53G; 6:121447004-121447004

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.675C>T; p.I225I; 6:121447522-121447522

 skinmalignant_melanomaSubstitution - coding silent

c.887C>T; p.S296F; 6:121447734-121447734

 skinmalignant_melanomaSubstitution - Missense

c.945A>G; p.A315A; 6:121447792-121447792

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.368T>C; p.V123A; 6:121447215-121447215

 livercarcinomaSubstitution - Missense

c.1088C>T; p.P363L; 6:121447935-121447935

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.443G>A; p.R148Q; 6:121447290-121447290

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.651C>A; p.S217S; 6:121447498-121447498

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.893G>C; p.C298S; 6:121447740-121447740

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1011C>T; p.F337F; 6:121447858-121447858

 skinmalignant_melanomaSubstitution - coding silent

c.913G>T; p.A305S; 6:121447760-121447760

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.605G>A; p.R202H; 6:121447452-121447452

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.110T>C; p.L37P; 6:121446957-121446957

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.461C>A; p.T154N; 6:121447308-121447308

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.461C>A; p.T154N; 6:121447308-121447308

 livercarcinomaSubstitution - Missense

c.141T>C; p.D47D; 6:121446988-121446988

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.747G>A; p.A249A; 6:121447594-121447594

 skinmalignant_melanomaSubstitution - coding silent

c.158G>T; p.R53L; 6:121447005-121447005

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.157C>T; p.R53C; 6:121447004-121447004

 skinmalignant_melanomaSubstitution - Missense

c.157C>T; p.R53C; 6:121447004-121447004

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.51C>T; p.Y17Y; 6:121446898-121446898

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.641T>C; p.L214P; 6:121447488-121447488

 skin; solemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.457C>T; p.R153*; 6:121447304-121447304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.894C>T; p.C298C; 6:121447741-121447741

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.836C>T; p.S279L; 6:121447683-121447683

 skinmalignant_melanomaSubstitution - Missense

c.716G>A; p.R239Q; 6:121447563-121447563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.950A>G; p.Q317R; 6:121447797-121447797

 breastcarcinomaSubstitution - Missense

c.836C>T; p.S279L; 6:121447683-121447683

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.620C>A; p.T207N; 6:121447467-121447467

 skinmalignant_melanomaSubstitution - Missense

c.318G>A; p.L106L; 6:121447165-121447165

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.633C>T; p.I211I; 6:121447480-121447480

 skinmalignant_melanomaSubstitution - coding silent

c.719T>G; p.V240G; 6:121447566-121447566

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.302G>A; p.R101Q; 6:121447149-121447149

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.114G>A; p.G38G; 6:121446961-121446961

 skinmalignant_melanomaSubstitution - coding silent

c.530A>G; p.Y177C; 6:121447377-121447377

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.502G>A; p.A168T; 6:121447349-121447349

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.T204M; 6:121447458-121447458

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.428G>A; p.G143D; 6:121447275-121447275

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.98G>A; p.R33Q; 6:121446945-121446945

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2T>A; p.M1K; 6:121446849-121446849

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.969G>A; p.A323A; 6:121447816-121447816

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.942T>G; p.S314R; 6:121447789-121447789

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1089T>G; p.P363P; 6:121447936-121447936

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.39G>T; p.K13N; 6:121446886-121446886

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.454C>A; p.L152M; 6:121447301-121447301

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1080C>A; p.D360E; 6:121447927-121447927

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1106G>A; p.S369N; 6:121447953-121447953

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.787C>A; p.Q263K; 6:121447634-121447634

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.566G>A; p.R189K; 6:121447413-121447413

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.548C>A; p.A183D; 6:121447395-121447395

 breastcarcinomaSubstitution - Missense

c.90C>T; p.F30F; 6:121446937-121446937

 skinmalignant_melanomaSubstitution - coding silent

c.646G>C; p.V216L; 6:121447493-121447493

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.869C>T; p.T290I; 6:121447716-121447716

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.510G>C; p.L170F; 6:121447357-121447357

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.774A>G; p.K258K; 6:121447621-121447621

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>A; p.A183A; 6:121447396-121447396

 pancreascarcinomaSubstitution - coding silent

c.718G>C; p.V240L; 6:121447565-121447565

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.718G>C; p.V240L; 6:121447565-121447565

 livercarcinomaSubstitution - Missense

c.718G>C; p.V240L; 6:121447565-121447565

 livercarcinomaSubstitution - Missense

c.968C>T; p.A323V; 6:121447815-121447815

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.968C>T; p.A323V; 6:121447815-121447815

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.932delC; p.A311fs*37; 6:121447779-121447779

 soft_tissue; striated_musclerhabdomyosarcomaDeletion - Frameshift

c.766C>A; p.P256T; 6:121447613-121447613

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.421G>A; p.E141K; 6:121447268-121447268

 skinmalignant_melanomaSubstitution - Missense

c.458G>A; p.R153Q; 6:121447305-121447305

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.375G>A; p.M125I; 6:121447222-121447222

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.782G>T; p.G261V; 6:121447629-121447629

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.715C>T; p.R239W; 6:121447562-121447562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.715C>T; p.R239W; 6:121447562-121447562

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.715C>T; p.R239W; 6:121447562-121447562

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.679G>T; p.E227*; 6:121447526-121447526

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.824C>T; p.T275I; 6:121447671-121447671

 skinmalignant_melanomaSubstitution - Missense

c.824C>T; p.T275I; 6:121447671-121447671

 skinmalignant_melanomaSubstitution - Missense

c.679G>T; p.E227*; 6:121447526-121447526

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.611C>A; p.T204K; 6:121447458-121447458

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.865G>C; p.V289L; 6:121447712-121447712

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.573C>A; p.P191P; 6:121447420-121447420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.547G>A; p.A183T; 6:121447394-121447394

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1042G>A; p.A348T; 6:121447889-121447889

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.705C>T; p.G235G; 6:121447552-121447552

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.16G>A; p.A6T; 6:121446863-121446863

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.747G>T; p.A249A; 6:121447594-121447594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1018G>T; p.D340Y; 6:121447865-121447865

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.281C>A; p.A94D; 6:121447128-121447128

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.328G>A; p.E110K; 6:121447175-121447175

 skinmalignant_melanomaSubstitution - Missense

c.263C>T; p.P88L; 6:121447110-121447110

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.246C>T; p.I82I; 6:121447093-121447093

 skinmalignant_melanomaSubstitution - coding silent

c.399G>T; p.K133N; 6:121447246-121447246

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.119C>T; p.A40V; 6:121446966-121446966

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1049G>A; p.G350E; 6:121447896-121447896

 skinmalignant_melanomaSubstitution - Missense

c.442C>T; p.R148*; 6:121447289-121447289

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.442C>T; p.R148*; 6:121447289-121447289

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.124G>T; p.E42*; 6:121446971-121446971

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.581A>T; p.H194L; 6:121447428-121447428

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

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