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

Basic Information

Gene ID

27113

Name

BBC3

Synonymous

BCL2 binding component 3;BBC3;BCL2 binding component 3

Definition

bcl-2-binding component 3|p53 up-regulated modulator of apoptosis

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

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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 0.00.

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.494C>T; p.P165L; 19:47221890-47221890

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.456C>G; p.Y152*; 19:47226573-47226573

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.491G>A; p.R164H; 19:47221893-47221893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.582G>T; p.*194Y; 19:47221802-47221802

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.154A>C; p.T52P; 19:47228278-47228278

 skin; extremitymalignant_melanomaSubstitution - Missense

c.465+2T>G; p.?; 19:47226562-47226562

 eye; uveal_tractmalignant_melanoma; mixedUnknown

c.559G>A; p.A187T; 19:47221825-47221825

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.553C>T; p.H185Y; 19:47221831-47221831

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.544C>T; p.P182S; 19:47221840-47221840

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.486G>A; p.R162R; 19:47221898-47221898

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.518A>G; p.N173S; 19:47221866-47221866

 breastcarcinomaSubstitution - Missense

c.1A>C; p.M1L; 19:47228431-47228431

 thyroidother; neoplasmSubstitution - Missense

c.564C>T; p.P188P; 19:47221820-47221820

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.4G>T; p.A2S; 19:47228428-47228428

 thyroidother; neoplasmSubstitution - Missense

c.536T>C; p.L179P; 19:47221848-47221848

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.480G>A; p.Q160Q; 19:47221904-47221904

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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