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

Basic Information

Gene ID

5782

Name

PTPN12

Synonymous

protein tyrosine phosphatase, non-receptor type 12;PTPN12;protein tyrosine phosphatase, non-receptor type 12

Definition

protein-tyrosine phosphatase G1|tyrosine-protein phosphatase non-receptor type 12

Position

7q11.23

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 0.19.

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.1334A>G; p.E445G; 7:77627013-77627013

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1829A>C; p.E610A; 7:77627508-77627508

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.300A>C; p.P100P; 7:77583569-77583569

 skinmalignant_melanomaSubstitution - coding silent

c.522C>T; p.F174F; 7:77597871-77597871

 breastcarcinomaSubstitution - coding silent

c.2265A>G; p.T755T; 7:77638715-77638715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2265A>G; p.T755T; 7:77638715-77638715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1361C>T; p.T454I; 7:77627040-77627040

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.S204L; 7:77600722-77600722

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.2092G>C; p.E698Q; 7:77635799-77635799

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2092G>C; p.E698Q; 7:77635799-77635799

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.824C>G; p.S275C; 7:77610826-77610826

 breastcarcinomaSubstitution - Missense

c.263A>T; p.Y88F; 7:77581481-77581481

 breastcarcinomaSubstitution - Missense

c.477delA; p.F160fs*36; 7:77592241-77592241

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.740C>T; p.T247M; 7:77607279-77607279

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4G>C; p.E2Q; 7:77537550-77537550

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.728C>T; p.A243V; 7:77607267-77607267

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.887A>C; p.K296T; 7:77610994-77610994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400C>T; p.R134*; 7:77585561-77585561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1717A>G; p.T573A; 7:77627396-77627396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1717A>G; p.T573A; 7:77627396-77627396

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2107C>T; p.Q703*; 7:77635814-77635814

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Nonsense

c.1335G>C; p.E445D; 7:77627014-77627014

 pancreasNSSubstitution - Missense

c.559C>T; p.R187C; 7:77600670-77600670

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1175T>C; p.V392A; 7:77626854-77626854

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2115G>T; p.Q705H; 7:77635822-77635822

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.606T>A; p.V202V; 7:77600717-77600717

 livercarcinomaSubstitution - coding silent

c.683G>T; p.C228F; 7:77600794-77600794

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2033C>T; p.P678L; 7:77632384-77632384

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1327C>T; p.L443F; 7:77627006-77627006

 skinmalignant_melanomaSubstitution - Missense

c.1427C>G; p.S476C; 7:77627106-77627106

 breastcarcinomaSubstitution - Missense

c.171A>C; p.E57D; 7:77571149-77571149

 breastcarcinomaSubstitution - Missense

c.1926T>A; p.T642T; 7:77627605-77627605

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1448C>T; p.S483L; 7:77627127-77627127

 skin; backmalignant_melanomaSubstitution - Missense

c.1924A>G; p.T642A; 7:77627603-77627603

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1108delC; p.P371fs*56; 7:77626787-77626787

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.688C>A; p.H230N; 7:77600799-77600799

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1507T>A; p.S503T; 7:77627186-77627186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.77A>C; p.D26A; 7:77537623-77537623

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.657T>C; p.Y219Y; 7:77600768-77600768

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.657T>C; p.Y219Y; 7:77600768-77600768

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2129delA; p.K712fs*5; 7:77635836-77635836

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2129delA; p.K712fs*5; 7:77635836-77635836

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2129delA; p.K712fs*5; 7:77635836-77635836

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.340G>T; p.V114L; 7:77583609-77583609

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1828G>T; p.E610*; 7:77627507-77627507

 skinmalignant_melanomaSubstitution - Nonsense

c.2183C>T; p.A728V; 7:77638633-77638633

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.607C>T; p.P203S; 7:77600718-77600718

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.841-1G>A; p.?; 7:77610947-77610947

 lungcarcinoma; adenocarcinomaUnknown

c.964G>A; p.V322I; 7:77618504-77618504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.99G>A; p.M33I; 7:77537645-77537645

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.964G>A; p.V322I; 7:77618504-77618504

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.648G>A; p.M216I; 7:77600759-77600759

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.950A>T; p.N317I; 7:77618490-77618490

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.422A>G; p.K141R; 7:77592186-77592186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.859C>G; p.H287D; 7:77610966-77610966

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.697G>A; p.A233T; 7:77607236-77607236

 pancreascarcinomaSubstitution - Missense

c.697G>A; p.A233T; 7:77607236-77607236

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1026-1G>A; p.?; 7:77626704-77626704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.456A>G; p.E152E; 7:77592220-77592220

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2119C>T; p.R707*; 7:77635826-77635826

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1641A>T; p.I547I; 7:77627320-77627320

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1283A>C; p.K428T; 7:77626962-77626962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1283A>C; p.K428T; 7:77626962-77626962

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.689A>G; p.H230R; 7:77600800-77600800

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>T; p.A102S; 7:77583573-77583573

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.166G>T; p.E56*; 7:77571144-77571144

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1003C>T; p.P335S; 7:77618543-77618543

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.166G>T; p.E56*; 7:77571144-77571144

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.166G>T; p.E56*; 7:77571144-77571144

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1785C>T; p.L595L; 7:77627464-77627464

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.319C>G; p.Q107E; 7:77583588-77583588

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.191A>G; p.Y64C; 7:77571169-77571169

 prostatecarcinomaSubstitution - Missense

c.2294G>A; p.R765Q; 7:77639231-77639231

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2294G>A; p.R765Q; 7:77639231-77639231

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2294G>A; p.R765Q; 7:77639231-77639231

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.292T>C; p.Y98H; 7:77583561-77583561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1411A>G; p.I471V; 7:77627090-77627090

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1474C>T; p.Q492*; 7:77627153-77627153

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.658C>G; p.Q220E; 7:77600769-77600769

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.658C>G; p.Q220E; 7:77600769-77600769

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1463G>A; p.G488D; 7:77627142-77627142

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1751_1753delATG; p.D585delD; 7:77627430-77627432

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningDeletion - In frame

c.2016T>C; p.D672D; 7:77632367-77632367

 skinmalignant_melanomaSubstitution - coding silent

c.183G>T; p.K61N; 7:77571161-77571161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1461C>G; p.V487V; 7:77627140-77627140

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.841-9C>T; p.?; 7:77610939-77610939

 skin; trunkmalignant_melanoma; nodularUnknown

c.1378C>T; p.H460Y; 7:77627057-77627057

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.100C>T; p.R34W; 7:77571078-77571078

 livercarcinomaSubstitution - Missense

c.271G>A; p.A91T; 7:77581489-77581489

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.100C>T; p.R34W; 7:77571078-77571078

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.842A>T; p.E281V; 7:77610949-77610949

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221G>A; p.R74Q; 7:77581439-77581439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.130A>G; p.T44A; 7:77571108-77571108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1508_1511delCAAA; p.N504fs*30; 7:77627187-77627190

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1695_1696delTG; p.V566fs*11; 7:77627374-77627375

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.2142A>G; p.E714E; 7:77635849-77635849

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.802G>T; p.E268*; 7:77610804-77610804

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1960A>G; p.N654D; 7:77627639-77627639

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.963G>A; p.M321I; 7:77618503-77618503

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1969G>T; p.G657*; 7:77627648-77627648

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.650G>T; p.R217M; 7:77600761-77600761

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.991G>A; p.D331N; 7:77618531-77618531

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.202C>T; p.L68L; 7:77571180-77571180

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.938T>G; p.V313G; 7:77611045-77611045

 skin; kneemalignant_melanomaSubstitution - Missense

c.2043delT; p.P682fs*6; 7:77632394-77632394

 livercarcinomaDeletion - Frameshift

c.821A>G; p.H274R; 7:77610823-77610823

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.193A>G; p.K65E; 7:77571171-77571171

 pancreascarcinomaSubstitution - Missense

c.193A>G; p.K65E; 7:77571171-77571171

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.148A>C; p.T50P; 7:77571126-77571126

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.220C>T; p.R74*; 7:77581438-77581438

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1078C>T; p.H360Y; 7:77626757-77626757

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2063C>T; p.A688V; 7:77632414-77632414

 breastcarcinomaSubstitution - Missense

c.1026-8T>C; p.?; 7:77626697-77626697

 livercarcinomaUnknown

c.2263A>G; p.T755A; 7:77638713-77638713

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2263A>G; p.T755A; 7:77638713-77638713

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.392T>C; p.M131T; 7:77585553-77585553

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2263A>G; p.T755A; 7:77638713-77638713

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.688C>T; p.H230Y; 7:77600799-77600799

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.409G>C; p.E137Q; 7:77585570-77585570

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.509G>A; p.R170K; 7:77597858-77597858

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1104T>G; p.P368P; 7:77626783-77626783

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1190C>T; p.S397L; 7:77626869-77626869

 skinmalignant_melanomaSubstitution - Missense

c.1942A>G; p.M648V; 7:77627621-77627621

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2140G>A; p.E714K; 7:77635847-77635847

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1942A>G; p.M648V; 7:77627621-77627621

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2314C>T; p.P772S; 7:77639251-77639251

 skin; upper_backmalignant_melanomaSubstitution - Missense

c.1047T>G; p.A349A; 7:77626726-77626726

 breastcarcinomaSubstitution - coding silent

c.2120G>A; p.R707Q; 7:77635827-77635827

 kidneyother; neoplasmSubstitution - Missense

c.2120G>A; p.R707Q; 7:77635827-77635827

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2260C>T; p.P754S; 7:77638710-77638710

 skinmalignant_melanomaSubstitution - Missense

c.2120G>A; p.R707Q; 7:77635827-77635827

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1294C>T; p.R432*; 7:77626973-77626973

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1295G>A; p.R432Q; 7:77626974-77626974

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1294C>T; p.R432*; 7:77626973-77626973

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1387A>T; p.K463*; 7:77627066-77627066

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.352T>C; p.W118R; 7:77583621-77583621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.169G>T; p.E57*; 7:77571147-77571147

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1844G>T; p.G615V; 7:77627523-77627523

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.785T>C; p.V262A; 7:77610787-77610787

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.690T>C; p.H230H; 7:77600801-77600801

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.854T>G; p.L285R; 7:77610961-77610961

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.H193Y; 7:77600688-77600688

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

')