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

Basic Information

Gene ID

5777

Name

PTPN6

Synonymous

protein tyrosine phosphatase, non-receptor type 6;PTPN6;protein tyrosine phosphatase, non-receptor type 6

Definition

hematopoietic cell phosphatase|hematopoietic cell protein-tyrosine phosphatase|protein-tyrosine phosphatase 1C|protein-tyrosine phosphatase SHP-1|tyrosine-protein phosphatase non-receptor type 6

Position

12p13

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.1503G>A; p.T501T; 12:6960161-6960161

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1503G>A; p.T501T; 12:6960161-6960161

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.693C>A; p.N231K; 12:6955431-6955431

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.210G>A; p.A70A; 12:6952061-6952061

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.210G>A; p.A70A; 12:6952061-6952061

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1335C>T; p.H445H; 12:6958047-6958047

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.395C>T; p.T132M; 12:6954873-6954873

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.988G>A; p.A330T; 12:6956482-6956482

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1513T>C; p.Y505H; 12:6960171-6960171

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.D88N; 12:6952113-6952113

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.262G>A; p.D88N; 12:6952113-6952113

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1395C>T; p.V465V; 12:6959960-6959960

 skinmalignant_melanomaSubstitution - coding silent

c.1582T>C; p.S528P; 12:6960344-6960344

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.443C>T; p.S148F; 12:6954921-6954921

 skinmalignant_melanomaSubstitution - Missense

c.1146C>T; p.C382C; 12:6957725-6957725

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1365C>T; p.A455A; 12:6959930-6959930

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1429G>A; p.G477S; 12:6959994-6959994

 skinmalignant_melanomaSubstitution - Missense

c.245A>T; p.Q82L; 12:6952096-6952096

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1033C>A; p.R345S; 12:6956527-6956527

 prostatecarcinomaSubstitution - Missense

c.1518G>A; p.K506K; 12:6960176-6960176

 breastcarcinomaSubstitution - coding silent

c.265C>T; p.R89C; 12:6952116-6952116

 pancreascarcinomaSubstitution - Missense

c.905T>A; p.I302N; 12:6956202-6956202

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1044C>T; p.V348V; 12:6956538-6956538

 skinmalignant_melanomaSubstitution - coding silent

c.1537G>A; p.A513T; 12:6960195-6960195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.88C>T; p.R30W; 12:6951688-6951688

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.951C>T; p.N317N; 12:6956445-6956445

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.251G>A; p.G84D; 12:6952102-6952102

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.709G>A; p.E237K; 12:6955447-6955447

 skinmalignant_melanomaSubstitution - Missense

c.951C>T; p.N317N; 12:6956445-6956445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.951C>T; p.N317N; 12:6956445-6956445

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>T; p.G204G; 12:6955246-6955246

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.807G>C; p.E269D; 12:6955719-6955719

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.89G>A; p.R30Q; 12:6951689-6951689

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.729C>T; p.G243G; 12:6955467-6955467

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1099G>A; p.E367K; 12:6957678-6957678

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1352T>G; p.V451G; 12:6958064-6958064

 pancreascarcinomaSubstitution - Missense

c.1660C>T; p.R554C; 12:6960422-6960422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.893G>T; p.G298V; 12:6956190-6956190

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.29G>A; p.S10N; 12:6951629-6951629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.461C>A; p.P154H; 12:6954939-6954939

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.385G>A; p.E129K; 12:6954863-6954863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.385G>A; p.E129K; 12:6954863-6954863

 skinmalignant_melanomaSubstitution - Missense

c.1297C>T; p.L433L; 12:6958009-6958009

 skinmalignant_melanomaSubstitution - coding silent

c.253G>T; p.V85F; 12:6952104-6952104

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.636G>A; p.P212P; 12:6955374-6955374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.495C>T; p.T165T; 12:6954973-6954973

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1475G>A; p.R492Q; 12:6960133-6960133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1536C>T; p.I512I; 12:6960194-6960194

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.633+9T>G; p.?; 12:6955276-6955276

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1583C>T; p.S528L; 12:6960345-6960345

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.483G>A; p.P161P; 12:6954961-6954961

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.823C>T; p.R275C; 12:6955735-6955735

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.823C>T; p.R275C; 12:6955735-6955735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.310G>A; p.D104N; 12:6952161-6952161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.22G>T; p.D8Y; 12:6951622-6951622

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.358G>A; p.A120T; 12:6954836-6954836

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.267C>T; p.R89R; 12:6952118-6952118

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1634T>G; p.M545R; 12:6960396-6960396

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1220G>C; p.R407P; 12:6957932-6957932

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1096C>T; p.P366S; 12:6957675-6957675

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.584A>T; p.K195M; 12:6955218-6955218

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1059G>A; p.E353E; 12:6956553-6956553

 skinmalignant_melanomaSubstitution - coding silent

c.1294T>C; p.F432L; 12:6958006-6958006

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.381G>A; p.K127K; 12:6954859-6954859

 NSmalignant_melanomaSubstitution - coding silent

c.381G>A; p.K127K; 12:6954859-6954859

 NSmalignant_melanomaSubstitution - coding silent

c.821A>G; p.N274S; 12:6955733-6955733

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1164C>T; p.T388T; 12:6957743-6957743

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1164C>T; p.T388T; 12:6957743-6957743

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1584G>A; p.S528S; 12:6960346-6960346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.708C>T; p.S236S; 12:6955446-6955446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1584G>A; p.S528S; 12:6960346-6960346

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1844G>A; p.C615Y; 12:6960833-6960833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.555C>T; p.D185D; 12:6955189-6955189

 prostatecarcinomaSubstitution - coding silent

c.486C>T; p.L162L; 12:6954964-6954964

 breastcarcinomaSubstitution - coding silent

c.727G>A; p.G243S; 12:6955465-6955465

 breastcarcinomaSubstitution - Missense

c.553G>A; p.D185N; 12:6955187-6955187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.547A>T; p.T183S; 12:6955181-6955181

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.180C>G; p.F60L; 12:6952031-6952031

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.479C>G; p.S160C; 12:6954957-6954957

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.131G>A; p.R44K; 12:6951731-6951731

 skinmalignant_melanomaSubstitution - Missense

c.1478C>T; p.A493V; 12:6960136-6960136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1623T>C; p.Y541Y; 12:6960385-6960385

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.135delG; p.D47fs*3; 12:6951986-6951986

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.785G>A; p.R262H; 12:6955697-6955697

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.785G>A; p.R262H; 12:6955697-6955697

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1049C>T; p.T350I; 12:6956543-6956543

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.20G>A; p.R7Q; 12:6951620-6951620

 livercarcinomaSubstitution - Missense

c.1191C>T; p.V397V; 12:6957770-6957770

 skinmalignant_melanomaSubstitution - coding silent

c.1502C>T; p.T501M; 12:6960160-6960160

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1698C>A; p.T566T; 12:6960687-6960687

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1698C>A; p.T566T; 12:6960687-6960687

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1698C>A; p.T566T; 12:6960687-6960687

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1604A>G; p.E535G; 12:6960366-6960366

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.62G>T; p.R21L; 12:6951662-6951662

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.629G>A; p.R210Q; 12:6955263-6955263

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1681G>C; p.E561Q; 12:6960670-6960670

 breastcarcinomaSubstitution - Missense

c.336T>C; p.H112H; 12:6954814-6954814

 skinmalignant_melanomaSubstitution - coding silent

c.157C>T; p.R53W; 12:6952008-6952008

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1759G>T; p.V587L; 12:6960748-6960748

 central_nervous_system; brainstemglioma; oligoastrocytoma_Grade_IISubstitution - Missense

c.1809G>A; p.P603P; 12:6960798-6960798

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1177C>T; p.R393C; 12:6957756-6957756

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.272G>A; p.G91D; 12:6952123-6952123

 pancreascarcinomaSubstitution - Missense

c.1358G>T; p.C453F; 12:6958070-6958070

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1376G>A; p.R459H; 12:6959941-6959941

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1376G>A; p.R459H; 12:6959941-6959941

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1488G>A; p.S496S; 12:6960146-6960146

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

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