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

Basic Information

Gene ID

414899

Name

BLID

Synonymous

BH3-like motif containing, cell death inducer;BLID;BH3-like motif containing, cell death inducer

Definition

BH3-like motif-containing cell death inducer|breast cancer cell 2|breast cancer cell protein 2

Position

11q24.1

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 0.10.

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.61G>C; p.E21Q; 11:122115862-122115862

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.61G>C; p.E21Q; 11:122115862-122115862

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.41_42insT; p.F15fs*2; 11:122115881-122115882

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.318G>T; p.E106D; 11:122115605-122115605

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.184G>A; p.E62K; 11:122115739-122115739

 skinmalignant_melanomaSubstitution - Missense

c.310T>A; p.S104T; 11:122115613-122115613

 pancreascarcinomaSubstitution - Missense

c.310T>A; p.S104T; 11:122115613-122115613

 pancreascarcinomaSubstitution - Missense

c.310T>A; p.S104T; 11:122115613-122115613

 pancreascarcinomaSubstitution - Missense

c.310T>A; p.S104T; 11:122115613-122115613

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.80G>A; p.G27E; 11:122115843-122115843

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.19A>G; p.I7V; 11:122115904-122115904

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.19A>G; p.I7V; 11:122115904-122115904

 livercarcinomaSubstitution - Missense

c.85A>G; p.I29V; 11:122115838-122115838

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.214C>G; p.L72V; 11:122115709-122115709

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.52C>A; p.L18I; 11:122115871-122115871

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.118G>T; p.E40*; 11:122115805-122115805

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2T>G; p.M1R; 11:122115921-122115921

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.300A>G; p.L100L; 11:122115623-122115623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.136C>T; p.P46S; 11:122115787-122115787

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.191T>C; p.V64A; 11:122115732-122115732

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.158C>T; p.S53F; 11:122115765-122115765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.200T>C; p.L67P; 11:122115723-122115723

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.199C>A; p.L67I; 11:122115724-122115724

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.231G>A; p.M77I; 11:122115692-122115692

 NSNSSubstitution - Missense

c.170C>T; p.P57L; 11:122115753-122115753

 skinmalignant_melanomaSubstitution - Missense

c.96C>A; p.A32A; 11:122115827-122115827

 large_intestine; colonNSSubstitution - coding silent

c.169C>A; p.P57T; 11:122115754-122115754

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.263G>T; p.R88I; 11:122115660-122115660

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.147G>A; p.A49A; 11:122115776-122115776

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.142G>A; p.E48K; 11:122115781-122115781

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.241G>T; p.V81F; 11:122115682-122115682

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.155G>C; p.G52A; 11:122115768-122115768

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.30G>A; p.Q10Q; 11:122115893-122115893

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.282G>C; p.R94S; 11:122115641-122115641

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

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