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

Basic Information

Gene ID

7832

Name

BTG2

Synonymous

BTG family, member 2;BTG2;BTG family, member 2

Definition

B-cell translocation gene 2|NGF-inducible anti-proliferative protein PC3|nerve growth factor-inducible anti-proliferative|pheochromacytoma cell-3|protein BTG2

Position

1q32

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 0.06.

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.325G>A; p.V109M; 1:203307286-203307286

 livercarcinomaSubstitution - Missense

c.87C>T; p.C29C; 1:203305693-203305693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.133G>A; p.A45T; 1:203305739-203305739

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.133G>A; p.A45T; 1:203305739-203305739

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.415A>G; p.N139D; 1:203307376-203307376

 soft_tissue; striated_musclerhabdomyosarcoma; alveolarSubstitution - Missense

c.134C>A; p.A45E; 1:203305740-203305740

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.205C>G; p.R69G; 1:203307166-203307166

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.36G>A; p.E12E; 1:203305642-203305642

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.103C>T; p.L35F; 1:203305709-203305709

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.74G>A; p.R25K; 1:203305680-203305680

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.396T>A; p.C132*; 1:203307357-203307357

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.81G>A; p.R27R; 1:203305687-203305687

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.81G>A; p.R27R; 1:203305687-203305687

 skinmalignant_melanomaSubstitution - coding silent

c.81G>A; p.R27R; 1:203305687-203305687

 skinmalignant_melanomaSubstitution - coding silent

c.96G>T; p.E32D; 1:203305702-203305702

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.471C>T; p.S157S; 1:203307432-203307432

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.41C>T; p.A14V; 1:203305647-203305647

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.272A>G; p.Q91R; 1:203307233-203307233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.411C>T; p.C137C; 1:203307372-203307372

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.293G>C; p.S98T; 1:203307254-203307254

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.45C>T; p.A15A; 1:203305651-203305651

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.205C>T; p.R69C; 1:203307166-203307166

 skinmalignant_melanomaSubstitution - Missense

c.3G>A; p.M1I; 1:203305609-203305609

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.102G>T; p.R34S; 1:203305708-203305708

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.142+5G>A; p.?; 1:203305753-203305753

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.257G>A; p.G86E; 1:203307218-203307218

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.223G>A; p.D75N; 1:203307184-203307184

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.223G>A; p.D75N; 1:203307184-203307184

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.196C>G; p.R66G; 1:203307157-203307157

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.249C>G; p.S83R; 1:203307210-203307210

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.80G>A; p.R27Q; 1:203305686-203305686

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157C>G; p.H53D; 1:203307118-203307118

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.142G>C; p.E48Q; 1:203305748-203305748

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

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