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

Basic Information

Gene ID

665

Name

BNIP3L

Synonymous

BCL2/adenovirus E1B 19kDa interacting protein 3-like;BNIP3L;BCL2/adenovirus E1B 19kDa interacting protein 3-like

Definition

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like|BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A|BCL2/adenovirus E1B 19-kd protein-interacting protein 3a|NIP3-like protein X|NIP3L|adenovirus E1B19k-binding protein B5

Position

8p21

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

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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.247G>C; p.G83R; 8:26391389-26391389

 kidneyother; neoplasmSubstitution - Missense

c.216G>T; p.E72D; 8:26391358-26391358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.572C>T; p.P191L; 8:26408337-26408337

 skinmalignant_melanomaSubstitution - Missense

c.293C>T; p.P98L; 8:26395238-26395238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.P98L; 8:26395238-26395238

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.291G>A; p.S97S; 8:26395236-26395236

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.445G>A; p.E149K; 8:26408087-26408087

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.445G>A; p.E149K; 8:26408087-26408087

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.230A>G; p.D77G; 8:26391372-26391372

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.453T>C; p.I151I; 8:26408095-26408095

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.453T>C; p.I151I; 8:26408095-26408095

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.287C>A; p.P96H; 8:26395232-26395232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.639A>G; p.T213T; 8:26410391-26410391

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.162_163insG; p.L57fs*25; 8:26391304-26391305

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.223C>A; p.L75I; 8:26391365-26391365

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.388G>A; p.E130K; 8:26408030-26408030

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264A>T; p.R88S; 8:26391406-26391406

 skinmalignant_melanomaSubstitution - Missense

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