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

Basic Information

Gene ID

5771

Name

PTPN2

Synonymous

protein tyrosine phosphatase, non-receptor type 2;PTPN2;protein tyrosine phosphatase, non-receptor type 2

Definition

T-cell protein tyrosine phosphatase|tyrosine-protein phosphatase non-receptor type 2

Position

18p11.3-p11.2

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

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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 0.18.

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.76C>T; p.R26*; 18:12859248-12859248

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.76C>T; p.R26*; 18:12859248-12859248

 skinmalignant_melanomaSubstitution - Nonsense

c.1009A>G; p.M337V; 18:12802001-12802001

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.764G>A; p.R255Q; 18:12814297-12814297

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.408T>C; p.F136F; 18:12825897-12825897

 skin; upper_legmalignant_melanomaSubstitution - coding silent

c.905A>T; p.D302V; 18:12802105-12802105

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.235G>A; p.A79T; 18:12836817-12836817

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.193G>C; p.E65Q; 18:12836859-12836859

 breastcarcinomaSubstitution - Missense

c.1194T>A; p.I398I; 18:12794332-12794332

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.893C>A; p.S298Y; 18:12802117-12802117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.308A>C; p.Q103P; 18:12830995-12830995

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.340C>T; p.R114C; 18:12830963-12830963

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1053delA; p.K351fs*18; 18:12794473-12794473

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.863G>A; p.R288Q; 18:12802147-12802147

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.706A>C; p.M236L; 18:12814355-12814355

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.673A>C; p.T225P; 18:12817188-12817188

 breastcarcinomaSubstitution - Missense

c.686T>C; p.V229A; 18:12817175-12817175

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.49C>T; p.R17C; 18:12884093-12884093

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.781A>G; p.T261A; 18:12814280-12814280

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.312G>T; p.Q104H; 18:12830991-12830991

 livercarcinomaSubstitution - Missense

c.1204G>A; p.A402T; 18:12794322-12794322

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.16G>C; p.E6Q; 18:12884126-12884126

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.895C>T; p.P299S; 18:12802115-12802115

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.546T>G; p.D182E; 18:12817315-12817315

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.P299S; 18:12802115-12802115

 skinmalignant_melanomaSubstitution - Missense

c.824G>A; p.G275E; 18:12814237-12814237

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.879T>C; p.S293S; 18:12802131-12802131

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1142G>T; p.R381M; 18:12794384-12794384

 ovaryother; neoplasmSubstitution - Missense

c.1074G>A; p.K358K; 18:12794452-12794452

 skinmalignant_melanomaSubstitution - coding silent

c.937T>C; p.Y313H; 18:12802073-12802073

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.665G>A; p.R222H; 18:12817196-12817196

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1060C>T; p.R354*; 18:12794466-12794466

 skinmalignant_melanomaSubstitution - Nonsense

c.1060C>T; p.R354*; 18:12794466-12794466

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.82G>A; p.E28K; 18:12859242-12859242

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.385A>T; p.T129S; 18:12825920-12825920

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.137A>G; p.N46S; 18:12859187-12859187

 livercarcinomaSubstitution - Missense

c.585C>A; p.F195L; 18:12817276-12817276

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.309G>A; p.Q103Q; 18:12830994-12830994

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1063G>T; p.E355*; 18:12794463-12794463

 livercarcinomaSubstitution - Nonsense

c.663G>T; p.G221G; 18:12817198-12817198

 prostatecarcinomaSubstitution - coding silent

c.661G>T; p.G221W; 18:12817200-12817200

 thyroidcarcinomaSubstitution - Missense

c.341G>A; p.R114H; 18:12830962-12830962

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.715G>A; p.G239R; 18:12814346-12814346

 skin; extremitymalignant_melanomaSubstitution - Missense

c.803C>T; p.S268L; 18:12814258-12814258

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.365A>G; p.K122R; 18:12825940-12825940

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.925A>G; p.M309V; 18:12802085-12802085

 livercarcinomaSubstitution - Missense

c.925A>G; p.M309V; 18:12802085-12802085

 livercarcinomaSubstitution - Missense

c.839A>G; p.K280R; 18:12814222-12814222

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.839A>G; p.K280R; 18:12814222-12814222

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.839A>G; p.K280R; 18:12814222-12814222

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.583T>C; p.F195L; 18:12817278-12817278

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1203C>T; p.G401G; 18:12794323-12794323

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.242G>C; p.R81T; 18:12836810-12836810

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.976A>G; p.T326A; 18:12802034-12802034

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.482T>C; p.L161S; 18:12825823-12825823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.405G>C; p.L135L; 18:12825900-12825900

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.751A>G; p.M251V; 18:12814310-12814310

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.491T>G; p.I164S; 18:12825814-12825814

 breastcarcinomaSubstitution - Missense

c.721G>A; p.D241N; 18:12814340-12814340

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.360+1G>A; p.?; 18:12830942-12830942

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.642C>G; p.I214M; 18:12817219-12817219

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1027_1029delGAG; p.E343delE; 18:12801981-12801983

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.888C>T; p.D296D; 18:12802122-12802122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.558T>C; p.P186P; 18:12817303-12817303

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.601G>T; p.E201*; 18:12817260-12817260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.905A>G; p.D302G; 18:12802105-12802105

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1199T>C; p.V400A; 18:12794327-12794327

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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