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

Basic Information

Gene ID

84897

Name

TBRG1

Synonymous

transforming growth factor beta regulator 1;TBRG1;transforming growth factor beta regulator 1

Definition

nuclear interactor of ARF and MDM2

Position

11q24.2

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 0.00.

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.763C>T; p.P255S; 11:124632218-124632218

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.424delT; p.F143fs*11; 11:124630785-124630785

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.638-6C>A; p.?; 11:124632087-124632087

livercarcinomaUnknown

c.413C>T; p.A138V; 11:124630774-124630774

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.641C>T; p.S214F; 11:124632096-124632096

skinmalignant_melanomaSubstitution - Missense

c.78T>A; p.H26Q; 11:124625843-124625843

pancreascarcinomaSubstitution - Missense

c.78T>A; p.H26Q; 11:124625843-124625843

pancreascarcinomaSubstitution - Missense

c.304G>C; p.D102H; 11:124630406-124630406

prostatecarcinomaSubstitution - Missense

c.220A>C; p.M74L; 11:124626985-124626985

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.771G>C; p.Q257H; 11:124632226-124632226

pancreascarcinomaSubstitution - Missense

c.532G>A; p.D178N; 11:124631312-124631312

breastcarcinomaSubstitution - Missense

c.638-6C>T; p.?; 11:124632087-124632087

lungcarcinoma; squamous_cell_carcinomaUnknown

c.178A>T; p.I60F; 11:124626943-124626943

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.669A>T; p.A223A; 11:124632124-124632124

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.466A>C; p.S156R; 11:124630827-124630827

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.333T>C; p.S111S; 11:124630435-124630435

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.494+10A>G; p.?; 11:124630865-124630865

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.201T>A; p.S67R; 11:124626966-124626966

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.655G>A; p.E219K; 11:124632110-124632110

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.451C>T; p.H151Y; 11:124630812-124630812

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.132C>A; p.N44K; 11:124625897-124625897

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense


')