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

Basic Information

Gene ID

56998

Name

CTNNBIP1

Synonymous

catenin, beta interacting protein 1;CTNNBIP1;catenin, beta interacting protein 1

Definition

beta-catenin-interacting protein 1|beta-catenin-interacting protein ICAT|inhibitor of beta-catenin and Tcf-4

Position

1p36.22

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 0.33.

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.86T>C; p.M29T; 1:9871979-9871979

skinmalignant_melanomaSubstitution - Missense

c.121C>A; p.L41M; 1:9871253-9871253

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.49C>T; p.Q17*; 1:9872016-9872016

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.204G>A; p.V68V; 1:9850760-9850760

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.32C>T; p.P11L; 1:9872033-9872033

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.184C>G; p.Q62E; 1:9871190-9871190

ovaryother; neoplasmSubstitution - Missense

c.22G>A; p.G8R; 1:9872043-9872043

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.203T>C; p.V68A; 1:9850761-9850761

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.10G>T; p.E4*; 1:9872055-9872055

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.240G>A; p.R80R; 1:9850724-9850724

breastcarcinomaSubstitution - coding silent

c.198C>T; p.D66D; 1:9850766-9850766

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.129C>T; p.T43T; 1:9871245-9871245

skinmalignant_melanomaSubstitution - coding silent

c.129C>T; p.T43T; 1:9871245-9871245

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.92C>T; p.S31L; 1:9871973-9871973

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.115G>C; p.E39Q; 1:9871259-9871259

urinary_tract; bladdercarcinomaSubstitution - Missense


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