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

Basic Information

Gene ID

10950

Name

BTG3

Synonymous

BTG family, member 3;BTG3;BTG family, member 3

Definition

B-cell translocation gene 3|abundant in neuroepithelium area protein|protein BTG3|protein Tob5

Position

21q21.1

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

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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 0.26.

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.577C>T; p.P193S; 21:17594275-17594275

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.719G>T; p.R240L; 21:17594133-17594133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.181C>T; p.R61C; 21:17604990-17604990

 large_intestine; coloncarcinomaSubstitution - Missense

c.181C>T; p.R61C; 21:17604990-17604990

 skinmalignant_melanomaSubstitution - Missense

c.181C>T; p.R61C; 21:17604990-17604990

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.589C>T; p.R197*; 21:17594263-17594263

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.188A>T; p.N63I; 21:17604983-17604983

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.66G>A; p.L22L; 21:17609079-17609079

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.271G>T; p.E91*; 21:17604900-17604900

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.216C>T; p.V72V; 21:17604955-17604955

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.422A>G; p.D141G; 21:17598714-17598714

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.300G>T; p.E100D; 21:17604871-17604871

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.629C>T; p.P210L; 21:17594223-17594223

 central_nervous_system; braingliomaSubstitution - Missense

c.575_576insA; p.P193fs*29; 21:17594276-17594277

 central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.575_576insA; p.P193fs*29; 21:17594276-17594277

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.378G>T; p.E126D; 21:17598758-17598758

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.549A>G; p.P183P; 21:17594303-17594303

 ovaryother; neoplasmSubstitution - coding silent

c.552G>A; p.M184I; 21:17594300-17594300

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.736C>T; p.P246S; 21:17594116-17594116

 skinmalignant_melanomaSubstitution - Missense

c.59A>T; p.D20V; 21:17609086-17609086

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.217C>T; p.L73L; 21:17604954-17604954

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.272A>T; p.E91V; 21:17604899-17604899

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.538C>T; p.P180S; 21:17594314-17594314

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.750A>G; p.A250A; 21:17594102-17594102

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.428A>C; p.H143P; 21:17598708-17598708

 breastcarcinomaSubstitution - Missense

c.518A>G; p.Q173R; 21:17598618-17598618

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.194T>G; p.F65C; 21:17604977-17604977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.270G>T; p.K90N; 21:17604901-17604901

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.270G>T; p.K90N; 21:17604901-17604901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.489G>A; p.S163S; 21:17598647-17598647

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.73G>C; p.E25Q; 21:17609072-17609072

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1delA; p.?; 21:17609144-17609144

 large_intestinecarcinoma; adenocarcinomaUnknown

c.1delA; p.?; 21:17609144-17609144

 large_intestinecarcinoma; adenocarcinomaUnknown

c.1delA; p.?; 21:17609144-17609144

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1delA; p.?; 21:17609144-17609144

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.373G>T; p.D125Y; 21:17598763-17598763

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.679C>T; p.P227S; 21:17594173-17594173

 skinmalignant_melanomaSubstitution - Missense

c.488C>T; p.S163L; 21:17598648-17598648

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.700C>T; p.P234S; 21:17594152-17594152

 skinmalignant_melanomaSubstitution - Missense

c.101T>A; p.L34*; 21:17609044-17609044

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.310C>G; p.R104G; 21:17604861-17604861

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.49C>T; p.R17*; 21:17609096-17609096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.49C>T; p.R17*; 21:17609096-17609096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

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