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

Basic Information

Gene ID

638

Name

BIK

Synonymous

BCL2-interacting killer (apoptosis-inducing);BIK;BCL2-interacting killer (apoptosis-inducing)

Definition

apoptosis inducer NBK|apoptosis-inducing NBK|bcl-2-interacting killer

Position

22q13.31

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

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.33.

The copy number variations for various cancers

Top

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.381C>T; p.P127P; 22:43128616-43128616

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.46C>T; p.L16F; 22:43124068-43124068

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.91G>A; p.G31S; 22:43124113-43124113

skinmalignant_melanomaSubstitution - Missense

c.94A>C; p.M32L; 22:43124116-43124116

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.380_381CC>TT; p.P127L; 22:43128615-43128616

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.28G>C; p.D10H; 22:43124050-43124050

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.407_424del18; p.L143_L148delLLALLL; 22:43129229-43129246

breastcarcinomaDeletion - In frame

c.426_427GC>AA; p.L142>?; 22:43129248-43129249

large_intestine; coloncarcinoma; adenocarcinomaComplex

c.458G>A; p.G153E; 22:43129280-43129280

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.445C>G; p.P149A; 22:43129267-43129267

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.428_445del18; p.L143_L148delLLALLL; 22:43129250-43129267

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaDeletion - In frame

c.483A>T; p.*161C; 22:43129305-43129305

large_intestine; coloncarcinoma; adenocarcinomaNonstop extension

c.111_116delGGACCT; p.L39_D40delLD; 22:43124133-43124138

oesophaguscarcinoma; adenocarcinomaDeletion - In frame

c.429_434delGCTGGC; p.A145_L146delAL; 22:43129251-43129256

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.185C>T; p.A62V; 22:43127720-43127720

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.283G>A; p.D95N; 22:43128518-43128518

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.447G>T; p.P149P; 22:43129269-43129269

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.193G>T; p.G65W; 22:43127728-43127728

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.379C>T; p.P127S; 22:43128614-43128614

skinmalignant_melanomaSubstitution - Missense

c.135C>T; p.F45F; 22:43124157-43124157

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.400G>A; p.E134K; 22:43129222-43129222

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense


')