| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 8493 |
Name | PPM1D |
Synonymous | protein phosphatase, Mg2+/Mn2+ dependent, 1D;PPM1D;protein phosphatase, Mg2+/Mn2+ dependent, 1D |
Definition | protein phosphatase 1D|protein phosphatase 1D magnesium-dependent, delta isoform|protein phosphatase 2C delta isoform|protein phosphatase Wip1|wild-type p53-induced phosphatase 1 |
Position | 17q23.2 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1434C>A; p.C478*; 17:60663168-60663168 |
breast | carcinoma | Substitution - Nonsense |
c.1669C>A; p.R557R; 17:60663403-60663403 |
breast | carcinoma | Substitution - coding silent |
c.865G>A; p.V289M; 17:60647930-60647930 |
breast | carcinoma | Substitution - Missense |
c.1179G>C; p.L393L; 17:60656760-60656760 |
breast | carcinoma | Substitution - coding silent |
c.1403C>A; p.S468*; 17:60663137-60663137 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1286delG; p.V430fs*1; 17:60663020-60663020 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Deletion - Frameshift |
c.1618G>T; p.E540*; 17:60663352-60663352 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Nonsense |
c.1414G>T; p.E472*; 17:60663148-60663148 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Nonsense |
c.1547C>G; p.S516*; 17:60663281-60663281 |
central_nervous_system; medulla | glioma; oligodendroglioma_Grade_III | Substitution - Nonsense |
c.1538T>A; p.L513*; 17:60663272-60663272 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1449delT; p.L484fs*1; 17:60663183-60663183 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1434C>A; p.C478*; 17:60663168-60663168 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.1344delT; p.L450fs*1; 17:60663078-60663078 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.324C>T; p.G108G; 17:60600738-60600738 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1282delC; p.P428fs*3; 17:60663016-60663016 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.759C>T; p.H253H; 17:60633910-60633910 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1573G>T; p.E525*; 17:60663307-60663307 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Nonsense |
c.945A>T; p.G315G; 17:60648010-60648010 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1286G>T; p.R429M; 17:60663020-60663020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.539T>C; p.I180T; 17:60623587-60623587 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1715G>A; p.R572Q; 17:60663449-60663449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.685G>A; p.E229K; 17:60623733-60623733 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1573G>T; p.E525*; 17:60663307-60663307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1573G>T; p.E525*; 17:60663307-60663307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1573G>T; p.E525*; 17:60663307-60663307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1384C>T; p.Q462*; 17:60663118-60663118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1614A>G; p.L538L; 17:60663348-60663348 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.14A>G; p.Y5C; 17:60600428-60600428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1219T>C; p.C407R; 17:60656800-60656800 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1275T>C; p.D425D; 17:60663009-60663009 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1719G>A; p.K573K; 17:60663453-60663453 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.863T>G; p.F288C; 17:60647928-60647928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1655G>A; p.R552Q; 17:60663389-60663389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1654C>T; p.R552*; 17:60663388-60663388 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.460T>A; p.W154R; 17:60600874-60600874 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.460T>A; p.W154R; 17:60600874-60600874 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.40G>A; p.D14N; 17:60600454-60600454 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.262C>T; p.P88S; 17:60600676-60600676 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1654C>T; p.R552*; 17:60663388-60663388 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.555G>A; p.M185I; 17:60623603-60623603 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.532G>A; p.V178I; 17:60623580-60623580 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1351G>T; p.E451*; 17:60663085-60663085 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.1672A>T; p.S558C; 17:60663406-60663406 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1742G>A; p.R581Q; 17:60663476-60663476 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1684C>A; p.Q562K; 17:60663418-60663418 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1322G>A; p.R441H; 17:60663056-60663056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1041_1042insA; p.M349fs*19; 17:60656622-60656623 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.743G>A; p.R248Q; 17:60633894-60633894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.83T>C; p.V28A; 17:60600497-60600497 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1442C>T; p.A481V; 17:60663176-60663176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.958A>C; p.I320L; 17:60648023-60648023 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1344delT; p.L450fs*1; 17:60663078-60663078 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1344delT; p.L450fs*1; 17:60663078-60663078 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1344delT; p.L450fs*1; 17:60663078-60663078 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1536T>A; p.N512K; 17:60663270-60663270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1373G>A; p.R458Q; 17:60663107-60663107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>A; p.R227Q; 17:60623728-60623728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1583G>T; p.R528I; 17:60663317-60663317 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1528_1529insA; p.N512fs*16; 17:60663262-60663263 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1255G>A; p.V419I; 17:60656836-60656836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1529delA; p.N512fs*2; 17:60663263-60663263 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1529delA; p.N512fs*2; 17:60663263-60663263 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1529delA; p.N512fs*2; 17:60663263-60663263 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1573G>T; p.E525*; 17:60663307-60663307 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1741C>T; p.R581*; 17:60663475-60663475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1578T>G; p.I526M; 17:60663312-60663312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.378G>A; p.K126K; 17:60600792-60600792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.568G>A; p.V190I; 17:60623616-60623616 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321C>T; p.R441C; 17:60663055-60663055 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1321C>T; p.R441C; 17:60663055-60663055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343A>G; p.N448S; 17:60663077-60663077 |
large_intestine; colon | NS | Substitution - Missense |
c.274T>C; p.C92R; 17:60600688-60600688 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.861A>C; p.E287D; 17:60647926-60647926 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7G>A; p.G3R; 17:60600421-60600421 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1256T>G; p.V419G; 17:60656837-60656837 |
liver | carcinoma | Substitution - Missense |
c.1256T>G; p.V419G; 17:60656837-60656837 |
liver | carcinoma | Substitution - Missense |
c.901C>A; p.L301I; 17:60647966-60647966 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.727C>T; p.R243C; 17:60633878-60633878 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.538A>G; p.I180V; 17:60623586-60623586 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1318G>T; p.V440F; 17:60663052-60663052 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.923A>T; p.Y308F; 17:60647988-60647988 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.788T>C; p.I263T; 17:60633939-60633939 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.418G>T; p.A140S; 17:60600832-60600832 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1543A>G; p.M515V; 17:60663277-60663277 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1707C>G; p.T569T; 17:60663441-60663441 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1741C>T; p.R581*; 17:60663475-60663475 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1167T>C; p.D389D; 17:60656748-60656748 |
pancreas | carcinoma | Substitution - coding silent |
c.1167T>C; p.D389D; 17:60656748-60656748 |
pancreas | carcinoma | Substitution - coding silent |
c.1167T>C; p.D389D; 17:60656748-60656748 |
pancreas | carcinoma | Substitution - coding silent |
c.191C>T; p.S64L; 17:60600605-60600605 |
pancreas | carcinoma | Substitution - Missense |
c.1434C>T; p.C478C; 17:60663168-60663168 |
prostate | carcinoma | Substitution - coding silent |
c.767C>A; p.P256H; 17:60633918-60633918 |
prostate | adenoma | Substitution - Missense |
c.474G>T; p.A158A; 17:60623522-60623522 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1557C>T; p.G519G; 17:60663291-60663291 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1339G>A; p.E447K; 17:60663073-60663073 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1442C>T; p.A481V; 17:60663176-60663176 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1569C>T; p.A523A; 17:60663303-60663303 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.612G>A; p.K204K; 17:60623660-60623660 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.607C>T; p.P203S; 17:60623655-60623655 |
skin | malignant_melanoma | Substitution - Missense |
c.1000G>A; p.E334K; 17:60648065-60648065 |
skin | malignant_melanoma | Substitution - Missense |
c.411G>A; p.K137K; 17:60600825-60600825 |
skin | malignant_melanoma | Substitution - coding silent |
c.1232C>T; p.P411L; 17:60656813-60656813 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1528C>T; p.Q510*; 17:60663262-60663262 |
skin | malignant_melanoma | Substitution - Nonsense |
c.502C>T; p.P168S; 17:60623550-60623550 |
skin | malignant_melanoma | Substitution - Missense |
c.1199C>T; p.S400F; 17:60656780-60656780 |
skin | malignant_melanoma | Substitution - Missense |
c.515G>A; p.G172E; 17:60623563-60623563 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1337C>A; p.S446*; 17:60663071-60663071 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1756G>A; p.G586S; 17:60663490-60663490 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1794C>T; p.H598H; 17:60663528-60663528 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.652A>G; p.K218E; 17:60623700-60623700 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1522A>G; p.M508V; 17:60663256-60663256 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1319T>C; p.V440A; 17:60663053-60663053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773A>G; p.G591G; 17:60663507-60663507 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1655G>A; p.R552Q; 17:60663389-60663389 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109C>T; p.A370V; 17:60656690-60656690 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408G>A; p.D470N; 17:60663142-60663142 |
thyroid | carcinoma | Substitution - Missense |
c.1434C>A; p.C478*; 17:60663168-60663168 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1434C>A; p.C478*; 17:60663168-60663168 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1528_1529insA; p.N512fs*16; 17:60663262-60663263 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1372C>T; p.R458*; 17:60663106-60663106 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.559G>C; p.V187L; 17:60623607-60623607 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1434C>A; p.C478*; 17:60663168-60663168 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.1434C>A; p.C478*; 17:60663168-60663168 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |