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

Basic Information

Gene ID

5524

Name

PPP2R4

Synonymous

protein phosphatase 2A activator, regulatory subunit 4;PPP2R4;protein phosphatase 2A activator, regulatory subunit 4

Definition

PP2A phosphatase activator|PP2A subunit B' isoform PR53|phosphotyrosyl phosphatase activator|protein phosphatase 2A, regulatory subunit B' (PR 53)|serine/threonine-protein phosphatase 2A activator|serine/threonine-protein phosphatase 2A regulatory subunit

Position

9q34

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 0.10.

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.91C>A; p.H31N; 9:129120572-129120572

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.402_405delGTTT; p.F135fs*39; 9:129129065-129129068

 breastcarcinomaDeletion - Frameshift

c.214G>A; p.E72K; 9:129123136-129123136

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.583G>T; p.A195S; 9:129134812-129134812

 breastcarcinomaSubstitution - Missense

c.430T>C; p.Y144H; 9:129129093-129129093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1061C>A; p.P354H; 9:129147448-129147448

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.892-3C>A; p.?; 9:129142442-129142442

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningUnknown

c.383C>T; p.P128L; 9:129129046-129129046

 skinmalignant_melanomaSubstitution - Missense

c.49C>G; p.P17A; 9:129120530-129120530

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.352A>G; p.T118A; 9:129129015-129129015

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.888C>T; p.T296T; 9:129137689-129137689

 skinmalignant_melanomaSubstitution - coding silent

c.565G>T; p.G189W; 9:129131639-129131639

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.426C>T; p.T142T; 9:129129089-129129089

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.548G>T; p.R183L; 9:129131622-129131622

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.203A>G; p.Y68C; 9:129123125-129123125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.Q231*; 9:129136496-129136496

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.133T>C; p.Y45H; 9:129123055-129123055

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.63G>T; p.Q21H; 9:129120544-129120544

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.357G>A; p.L119L; 9:129129020-129129020

 skinmalignant_melanomaSubstitution - coding silent

c.352A>T; p.T118S; 9:129129015-129129015

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.596G>A; p.C199Y; 9:129134825-129134825

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1070C>T; p.S357L; 9:129147457-129147457

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.582C>T; p.F194F; 9:129134811-129134811

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.582C>T; p.F194F; 9:129134811-129134811

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.244G>T; p.E82*; 9:129127991-129127991

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1056C>T; p.I352I; 9:129147443-129147443

 oesophaguscarcinomaSubstitution - coding silent

c.353C>T; p.T118M; 9:129129016-129129016

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.198C>T; p.F66F; 9:129123120-129123120

 skinmalignant_melanomaSubstitution - coding silent

c.682C>T; p.R228W; 9:129136487-129136487

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.682C>T; p.R228W; 9:129136487-129136487

 livercarcinomaSubstitution - Missense

c.281G>C; p.C94S; 9:129128028-129128028

 breastcarcinomaSubstitution - Missense

c.148G>A; p.G50R; 9:129123070-129123070

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.943G>A; p.A315T; 9:129142496-129142496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.910G>A; p.A304T; 9:129142463-129142463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.718G>A; p.G240S; 9:129136523-129136523

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.718G>A; p.G240S; 9:129136523-129136523

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.295C>T; p.R99C; 9:129128042-129128042

 pancreascarcinomaSubstitution - Missense

c.760C>T; p.P254S; 9:129136565-129136565

 breastcarcinomaSubstitution - Missense

c.728G>T; p.G243V; 9:129136533-129136533

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.683G>A; p.R228Q; 9:129136488-129136488

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.339C>T; p.V113V; 9:129129002-129129002

 skinmalignant_melanomaSubstitution - coding silent

c.946G>T; p.V316F; 9:129142499-129142499

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.286C>G; p.P96A; 9:129128033-129128033

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.936C>A; p.N312K; 9:129142489-129142489

 pancreasNSSubstitution - Missense

c.615G>T; p.G205G; 9:129134844-129134844

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.865C>T; p.L289L; 9:129137666-129137666

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.396_397delCT; p.R134fs*4; 9:129129059-129129060

 breastcarcinomaDeletion - Frameshift

c.525G>T; p.K175N; 9:129131599-129131599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400C>T; p.R134W; 9:129129063-129129063

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.400C>T; p.R134W; 9:129129063-129129063

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.834C>T; p.A278A; 9:129137635-129137635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.574G>A; p.A192T; 9:129134803-129134803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.790_790+11delGGTACTAGAGCG; p.?; 9:129136595-129136606

 breastcarcinomaUnknown

c.328G>A; p.E110K; 9:129128991-129128991

 breastcarcinomaSubstitution - Missense

c.122G>A; p.R41H; 9:129120603-129120603

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.122G>A; p.R41H; 9:129120603-129120603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.168C>T; p.N56N; 9:129123090-129123090

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.940A>T; p.S314C; 9:129142493-129142493

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.183G>T; p.G61G; 9:129123105-129123105

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.77_78insA; p.E29fs*19; 9:129120558-129120559

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.566-1G>A; p.?; 9:129134794-129134794

 skinmalignant_melanomaUnknown

c.195C>T; p.T65T; 9:129123117-129123117

 skinmalignant_melanomaSubstitution - coding silent

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