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

Basic Information

Gene ID

10904

Name

BLCAP

Synonymous

bladder cancer associated protein;BLCAP;bladder cancer associated protein

Definition

bladder cancer 10 kDa protein|bladder cancer related protein (10kD)|bladder cancer-associated protein

Position

20q11.23

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.120G>A; p.R40R; 20:37519055-37519055

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.231A>C; p.E77D; 20:37518944-37518944

livercarcinomaSubstitution - Missense

c.231A>C; p.E77D; 20:37518944-37518944

livercarcinomaSubstitution - Missense

c.194G>T; p.C65F; 20:37518981-37518981

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.183_194del12; p.W62_C65delWGNC; 20:37518981-37518992

stomachcarcinoma; adenocarcinomaDeletion - In frame

c.176A>G; p.Y59C; 20:37518999-37518999

ovaryother; neoplasmSubstitution - Missense

c.237G>A; p.A79A; 20:37518938-37518938

pancreascarcinomaSubstitution - coding silent

c.54C>T; p.N18N; 20:37519121-37519121

skinmalignant_melanomaSubstitution - coding silent

c.259A>G; p.T87A; 20:37518916-37518916

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.233C>T; p.S78L; 20:37518942-37518942

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.70A>G; p.S24G; 20:37519105-37519105

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.71G>A; p.S24N; 20:37519104-37519104

urinary_tract; bladdercarcinomaSubstitution - Missense

c.84C>A; p.F28L; 20:37519091-37519091

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.165C>T; p.F55F; 20:37519010-37519010

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.118C>T; p.R40W; 20:37519057-37519057

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.203A>T; p.Y68F; 20:37518972-37518972

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.90C>G; p.G30G; 20:37519085-37519085

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.51C>T; p.L17L; 20:37519124-37519124

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.34C>G; p.L12V; 20:37519141-37519141

breastcarcinomaSubstitution - Missense


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