| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 5770 |
Name | PTPN1 |
Synonymous | protein tyrosine phosphatase, non-receptor type 1;PTPN1;protein tyrosine phosphatase, non-receptor type 1 |
Definition | protein tyrosine phosphatase, placental|protein-tyrosine phosphatase 1B|tyrosine-protein phosphatase non-receptor type 1 |
Position | 20q13.1-q13.2 |
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 | Top |
 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
 |
 |
Loss of Function mutations compare to missense mutations | Top |
 |
| The ratio of the loss-of-function mutations over missense mutations is 0.21. |
The copy number variations for various cancers | Top |
 |
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.909C>T; p.P303P; 20:50579747-50579747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.909C>T; p.P303P; 20:50579747-50579747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.909C>T; p.P303P; 20:50579747-50579747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.656T>C; p.I219T; 20:50578583-50578583 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.803G>A; p.R268H; 20:50579268-50579268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.R156Q; 20:50574629-50574629 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157C>T; p.S386F; 20:50581333-50581333 |
skin | malignant_melanoma | Substitution - Missense |
c.136T>C; p.Y46H; 20:50561435-50561435 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1270T>C; p.Y424H; 20:50581446-50581446 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.649G>A; p.A217T; 20:50578576-50578576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068_1069insT; p.A357fs*13; 20:50579906-50579907 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1190A>G; p.K397R; 20:50581366-50581366 |
liver | carcinoma | Substitution - Missense |
c.1128G>A; p.G376G; 20:50581304-50581304 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.205G>A; p.A69T; 20:50565019-50565019 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1155C>T; p.A385A; 20:50581331-50581331 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1175C>T; p.P392L; 20:50581351-50581351 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.142G>T; p.D48Y; 20:50561441-50561441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1095T>G; p.S365R; 20:50581271-50581271 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1247C>T; p.A416V; 20:50581423-50581423 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.592G>T; p.V198F; 20:50578519-50578519 |
liver | carcinoma | Substitution - Missense |
c.94T>G; p.C32G; 20:50561393-50561393 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.553C>T; p.P185S; 20:50578480-50578480 |
skin | malignant_melanoma | Substitution - Missense |
c.592G>T; p.V198F; 20:50578519-50578519 |
liver | carcinoma | Substitution - Missense |
c.1116T>C; p.S372S; 20:50581292-50581292 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.8T>C; p.M3T; 20:50510535-50510535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.399G>T; p.M133I; 20:50574561-50574561 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.944G>A; p.R315Q; 20:50579782-50579782 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1051G>T; p.G351*; 20:50579889-50579889 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.276C>T; p.C92C; 20:50568400-50568400 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1263C>T; p.A421A; 20:50581439-50581439 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.898G>A; p.E300K; 20:50579736-50579736 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.64G>T; p.D22Y; 20:50561363-50561363 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.535T>C; p.W179R; 20:50578462-50578462 |
thyroid | other; neoplasm | Substitution - Missense |
c.1250C>T; p.T417M; 20:50581426-50581426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099G>C; p.D367H; 20:50581275-50581275 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1185C>T; p.P395P; 20:50581361-50581361 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1147C>T; p.Q383*; 20:50581323-50581323 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1090A>G; p.M364V; 20:50581266-50581266 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.805T>G; p.F269V; 20:50579270-50579270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1129G>A; p.G377R; 20:50581305-50581305 |
skin | malignant_melanoma | Substitution - Missense |
c.777G>A; p.G259G; 20:50579242-50579242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.943C>T; p.R315*; 20:50579781-50579781 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1027G>A; p.D343N; 20:50579865-50579865 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.809C>T; p.S270F; 20:50579274-50579274 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.191A>T; p.N64I; 20:50565005-50565005 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1106A>C; p.E369A; 20:50581282-50581282 |
liver | carcinoma | Substitution - Missense |
c.659G>A; p.G220D; 20:50578586-50578586 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.840C>T; p.F280F; 20:50579305-50579305 |
skin | malignant_melanoma | Substitution - coding silent |
c.591A>G; p.K197K; 20:50578518-50578518 |
liver | carcinoma | Substitution - coding silent |
c.591A>G; p.K197K; 20:50578518-50578518 |
liver | carcinoma | Substitution - coding silent |
c.691T>G; p.C231G; 20:50578618-50578618 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1167A>T; p.K389N; 20:50581343-50581343 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.774G>T; p.M258I; 20:50579239-50579239 |
skin | malignant_melanoma | Substitution - Missense |
c.1267G>A; p.A423T; 20:50581443-50581443 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1084G>A; p.E362K; 20:50579922-50579922 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.675C>T; p.F225F; 20:50578602-50578602 |
skin | malignant_melanoma | Substitution - coding silent |
c.998G>A; p.W333*; 20:50579836-50579836 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.1138C>T; p.R380*; 20:50581314-50581314 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1138C>T; p.R380*; 20:50581314-50581314 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1125delG; p.G377fs*27; 20:50581301-50581301 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1125delG; p.G377fs*27; 20:50581301-50581301 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.769C>T; p.R257W; 20:50579234-50579234 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.769C>T; p.R257W; 20:50579234-50579234 |
skin | malignant_melanoma | Substitution - Missense |
c.466C>T; p.R156*; 20:50574628-50574628 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.127C>T; p.R43*; 20:50561426-50561426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.641A>C; p.H214P; 20:50578568-50578568 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.259C>G; p.P87A; 20:50568383-50568383 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099G>T; p.D367Y; 20:50581275-50581275 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |