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

Basic Information

Gene ID

56616

Name

DIABLO

Synonymous

diablo, IAP-binding mitochondrial protein;DIABLO;diablo, IAP-binding mitochondrial protein

Definition

diablo homolog, mitochondrial|direct IAP-binding protein with low pI|second mitochondria-derived activator of caspase

Position

12q24.31

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

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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 0.08.

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.167C>T; p.A56V; 12:122224528-122224528

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.167C>T; p.A56V; 12:122224528-122224528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.688T>C; p.S230P; 12:122208413-122208413

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.182A>G; p.Q61R; 12:122224513-122224513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 12:122226012-122226012

 skinmalignant_melanomaSubstitution - Missense

c.201C>T; p.S67S; 12:122218380-122218380

 skinmalignant_melanomaSubstitution - coding silent

c.315G>T; p.K105N; 12:122218266-122218266

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.546C>T; p.T182T; 12:122208555-122208555

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.666G>A; p.E222E; 12:122208435-122208435

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.545C>A; p.T182N; 12:122208556-122208556

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.545C>A; p.T182N; 12:122208556-122208556

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.545C>A; p.T182N; 12:122208556-122208556

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.545C>A; p.T182N; 12:122208556-122208556

 breastcarcinomaSubstitution - Missense

c.545C>A; p.T182N; 12:122208556-122208556

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.545C>A; p.T182N; 12:122208556-122208556

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.627A>T; p.A209A; 12:122208474-122208474

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.525C>T; p.G175G; 12:122208576-122208576

 skinmalignant_melanomaSubstitution - coding silent

c.525C>T; p.G175G; 12:122208576-122208576

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.351T>G; p.Y117*; 12:122216834-122216834

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.97C>T; p.R33W; 12:122224598-122224598

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.34G>T; p.V12L; 12:122225981-122225981

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.680G>T; p.R227L; 12:122208421-122208421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.255C>A; p.T85T; 12:122218326-122218326

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.604C>T; p.R202W; 12:122208497-122208497

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.116T>A; p.I39K; 12:122224579-122224579

 breastcarcinomaSubstitution - Missense

c.459G>A; p.L153L; 12:122216552-122216552

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.284C>T; p.A95V; 12:122218297-122218297

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.96G>T; p.K32N; 12:122224599-122224599

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

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