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

Basic Information

Gene ID

10018

Name

BCL2L11

Synonymous

BCL2-like 11 (apoptosis facilitator);BCL2L11;BCL2-like 11 (apoptosis facilitator)

Definition

bcl-2 interacting mediator of cell death|bcl-2 interacting protein Bim|bcl-2-like protein 11|bcl-2-related ovarian death agonist

Position

2q13

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 0.12.

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.457C>T; p.R153W; 2:111150106-111150106

 prostatecarcinomaSubstitution - Missense

c.196C>T; p.P66S; 2:111123941-111123941

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.189G>A; p.P63P; 2:111123934-111123934

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.240_241insACA; p.F80_I81insT; 2:111123985-111123986

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.272G>A; p.R91Q; 2:111124017-111124017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.272G>A; p.R91Q; 2:111124017-111124017

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.250A>G; p.R84G; 2:111123995-111123995

 breastcarcinomaSubstitution - Missense

c.140A>G; p.N47S; 2:111123885-111123885

 livercarcinomaSubstitution - Missense

c.254G>T; p.R85I; 2:111123999-111123999

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.335A>C; p.K112T; 2:111124080-111124080

 livercarcinomaSubstitution - Missense

c.335A>C; p.K112T; 2:111124080-111124080

 livercarcinomaSubstitution - Missense

c.145G>C; p.G49R; 2:111123890-111123890

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.312C>A; p.S104R; 2:111124057-111124057

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.444C>T; p.I148I; 2:111150093-111150093

 skinmalignant_melanomaSubstitution - coding silent

c.466G>A; p.G156R; 2:111150115-111150115

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151G>A; p.E51K; 2:111123896-111123896

 breastcarcinomaSubstitution - Missense

c.203C>T; p.A68V; 2:111123948-111123948

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.146G>A; p.G49E; 2:111123891-111123891

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.458G>C; p.R153P; 2:111150107-111150107

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458G>C; p.R153P; 2:111150107-111150107

 breastcarcinomaSubstitution - Missense

c.265C>T; p.L89L; 2:111124010-111124010

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.519_520insA; p.A174fs*>26; 2:111164153-111164154

 prostatecarcinoma; adenocarcinomaInsertion - Frameshift

c.519_520insA; p.A174fs*>26; 2:111164153-111164154

 prostatecarcinomaInsertion - Frameshift

c.471C>T; p.D157D; 2:111150120-111150120

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.574C>T; p.R192C; 2:111164208-111164208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.507G>A; p.L169L; 2:111164141-111164141

 breastcarcinomaSubstitution - coding silent

c.291C>G; p.F97L; 2:111124036-111124036

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.294delT; p.F99fs*10; 2:111124039-111124039

 stomachadenocarcinomaDeletion - Frameshift

c.95C>A; p.A32D; 2:111123840-111123840

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.251G>C; p.R84T; 2:111123996-111123996

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.95C>A; p.A32D; 2:111123840-111123840

 thyroidother; neoplasmSubstitution - Missense

c.198A>C; p.P66P; 2:111123943-111123943

 breastcarcinomaSubstitution - coding silent

c.198A>C; p.P66P; 2:111123943-111123943

 breastcarcinomaSubstitution - coding silent

c.563G>T; p.R188L; 2:111164197-111164197

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.560_561insA; p.R188fs*>12; 2:111164194-111164195

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.172G>A; p.G58S; 2:111123917-111123917

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.538C>T; p.R180*; 2:111164172-111164172

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.187C>T; p.P63S; 2:111123932-111123932

 skinmalignant_melanomaSubstitution - Missense

c.101_104delCCTC; p.S35fs*48; 2:111123846-111123849

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - Frameshift

c.563G>A; p.R188H; 2:111164197-111164197

 pancreascarcinomaSubstitution - Missense

c.4G>A; p.A2T; 2:111123749-111123749

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.214C>T; p.P72S; 2:111123959-111123959

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.526G>A; p.E176K; 2:111164160-111164160

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.585G>C; p.W195C; 2:111164219-111164219

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.480C>T; p.N160N; 2:111150129-111150129

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.230C>T; p.S77F; 2:111123975-111123975

 skinmalignant_melanomaSubstitution - Missense

c.62C>T; p.P21L; 2:111123807-111123807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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