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

Basic Information

Gene ID

2706

Name

GJB2

Synonymous

gap junction protein, beta 2, 26kDa;GJB2;gap junction protein, beta 2, 26kDa

Definition

connexin 26|gap junction beta-2 protein|gap junction protein beta 2

Position

13q11-q12

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

The copy number variations for various cancers

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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.56G>C; p.S19T; 13:20189526-20189526

 bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.186C>T; p.N62N; 13:20189396-20189396

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.325G>A; p.G109R; 13:20189257-20189257

 skinmalignant_melanomaSubstitution - Missense

c.385G>A; p.E129K; 13:20189197-20189197

 skinmalignant_melanomaSubstitution - Missense

c.474C>T; p.Y158Y; 13:20189108-20189108

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.79G>A; p.V27I; 13:20189503-20189503

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.79G>A; p.V27I; 13:20189503-20189503

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.420C>T; p.I140I; 13:20189162-20189162

 skinmalignant_melanomaSubstitution - coding silent

c.258G>T; p.T86T; 13:20189324-20189324

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.268C>T; p.L90L; 13:20189314-20189314

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.428G>A; p.R143Q; 13:20189154-20189154

 pancreascarcinomaSubstitution - Missense

c.428G>A; p.R143Q; 13:20189154-20189154

 pancreascarcinomaSubstitution - Missense

c.428G>A; p.R143Q; 13:20189154-20189154

 pancreascarcinomaSubstitution - Missense

c.94C>T; p.R32C; 13:20189488-20189488

 skinmalignant_melanomaSubstitution - Missense

c.94C>T; p.R32C; 13:20189488-20189488

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.94C>T; p.R32C; 13:20189488-20189488

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.94C>T; p.R32C; 13:20189488-20189488

 skinmalignant_melanomaSubstitution - Missense

c.423C>G; p.F141L; 13:20189159-20189159

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.423C>G; p.F141L; 13:20189159-20189159

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.585G>A; p.M195I; 13:20188997-20188997

 skin; trunkmalignant_melanomaSubstitution - Missense

c.308_310delAGA; p.K103delK; 13:20189272-20189274

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.532G>A; p.V178M; 13:20189050-20189050

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.124G>T; p.E42*; 13:20189458-20189458

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.450C>A; p.F150L; 13:20189132-20189132

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.635A>G; p.Y212C; 13:20188947-20188947

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.671_672insA; p.P225fs*>3; 13:20188910-20188911

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.249C>T; p.F83F; 13:20189333-20189333

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.341A>G; p.E114G; 13:20189241-20189241

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.31G>A; p.G11R; 13:20189551-20189551

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518C>T; p.P173L; 13:20189064-20189064

 skinmalignant_melanomaSubstitution - Missense

c.589G>T; p.A197S; 13:20188993-20188993

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.321C>G; p.I107M; 13:20189261-20189261

 central_nervous_system; braingliomaSubstitution - Missense

c.357G>A; p.E119E; 13:20189225-20189225

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.264G>A; p.A88A; 13:20189318-20189318

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.28C>A; p.L10M; 13:20189554-20189554

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237G>A; p.L79L; 13:20189345-20189345

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.344T>G; p.F115C; 13:20189238-20189238

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.573C>T; p.F191F; 13:20189009-20189009

 central_nervous_system; braingliomaSubstitution - coding silent

c.438C>G; p.F146L; 13:20189144-20189144

 breastcarcinomaSubstitution - Missense

c.475G>T; p.D159Y; 13:20189107-20189107

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.23C>T; p.T8M; 13:20189559-20189559

 livercarcinomaSubstitution - Missense

c.511G>A; p.A171T; 13:20189071-20189071

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.486C>T; p.S162S; 13:20189096-20189096

 skinmalignant_melanomaSubstitution - coding silent

c.46C>A; p.H16N; 13:20189536-20189536

 skinmalignant_melanomaSubstitution - Missense

c.106C>T; p.L36F; 13:20189476-20189476

 skinmalignant_melanomaSubstitution - Missense

c.24G>A; p.T8T; 13:20189558-20189558

 skinmalignant_melanomaSubstitution - coding silent

c.24G>A; p.T8T; 13:20189558-20189558

 skinmalignant_melanomaSubstitution - coding silent

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