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

Basic Information

Gene ID

581

Name

BAX

Synonymous

BCL2-associated X protein;BAX;BCL2-associated X protein

Definition

BCL2-associated X protein omega|Baxdelta2G9|Baxdelta2G9omega|Baxdelta2omega|apoptosis regulator BAX|bcl-2-like protein 4|bcl2-L-4

Position

19q13.3-q13.4

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 0.72.

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.406A>C; p.I136L; 19:48960846-48960846

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89Q; 19:48956230-48956230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.261C>T; p.S87S; 19:48956225-48956225

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.87-3T>A; p.?; 19:48955684-48955684

 livercarcinomaUnknown

c.87-3T>A; p.?; 19:48955684-48955684

 livercarcinomaUnknown

c.109C>T; p.R37*; 19:48955709-48955709

 endometriumcarcinoma; serous_carcinomaSubstitution - Nonsense

c.265C>T; p.R89*; 19:48956229-48956229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.119G>A; p.G40E; 19:48955719-48955719

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.338T>C; p.L113P; 19:48956302-48956302

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.71C>T; p.A24V; 19:48955584-48955584

 skin; armmalignant_melanomaSubstitution - Missense

c.282A>G; p.R94R; 19:48956246-48956246

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.113_114insG; p.E41fs*33; 19:48955713-48955714

 breastcarcinomaInsertion - Frameshift

c.113_114insG; p.E41fs*33; 19:48955713-48955714

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.113_114insG; p.E41fs*33; 19:48955713-48955714

 breastcarcinomaInsertion - Frameshift

c.113_114insG; p.E41fs*33; 19:48955713-48955714

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.417G>T; p.W139C; 19:48960857-48960857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.391G>A; p.E131K; 19:48960831-48960831

 breastcarcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520A>C; p.T174P; 19:48960960-48960960

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120G>A; p.G40G; 19:48955720-48955720

 skinmalignant_melanomaSubstitution - coding silent

c.120G>A; p.G40G; 19:48955720-48955720

 skinmalignant_melanomaSubstitution - coding silent

c.120G>A; p.G40G; 19:48955720-48955720

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.320G>A; p.W107*; 19:48956284-48956284

 breastcarcinomaSubstitution - Nonsense

c.430C>A; p.L144I; 19:48960870-48960870

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.432C>T; p.L144L; 19:48960872-48960872

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.280C>A; p.R94R; 19:48956244-48956244

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.52C>A; p.Q18K; 19:48955565-48955565

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.280C>T; p.R94*; 19:48956244-48956244

 central_nervous_system; braingliomaSubstitution - Nonsense

c.280C>T; p.R94*; 19:48956244-48956244

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.266G>T; p.R89L; 19:48956230-48956230

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.82C>T; p.Q28*; 19:48955595-48955595

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.373C>A; p.L125M; 19:48960813-48960813

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.373C>A; p.L125M; 19:48960813-48960813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.247G>A; p.V83M; 19:48956211-48956211

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.545C>T; p.P182L; 19:48960985-48960985

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.84delG; p.G29fs*31; 19:48955597-48955597

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.353G>T; p.S118I; 19:48956317-48956317

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.371C>T; p.A124V; 19:48960811-48960811

 skinmalignant_melanomaSubstitution - Missense

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 livercarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.114delG; p.E41fs*19; 19:48955714-48955714

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.442C>T; p.L148L; 19:48960882-48960882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.114_115insG; p.E41fs*33; 19:48955714-48955715

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.399C>G; p.I133M; 19:48960839-48960839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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