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

Basic Information

Gene ID

5515

Name

PPP2CA

Synonymous

protein phosphatase 2, catalytic subunit, alpha isozyme;PPP2CA;protein phosphatase 2, catalytic subunit, alpha isozyme

Definition

PP2A-alpha|protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|protein phosphatase 2A catalytic subunit, alpha isoform|replication protein C|serine/threonine protein phosphatase 2A, catalytic subunit, alpha isoform|serine/threonine-prote

Position

5q31.1

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 0.22.

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.393T>C; p.D131D; 5:134201941-134201941

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.513G>A; p.S171S; 5:134201048-134201048

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.513G>A; p.S171S; 5:134201048-134201048

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.19A>G; p.T7A; 5:134225843-134225843

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.523G>C; p.D175H; 5:134201038-134201038

 livercarcinomaSubstitution - Missense

c.759C>T; p.D253D; 5:134199184-134199184

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.146G>A; p.R49Q; 5:134206088-134206088

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664C>G; p.Q222E; 5:134200409-134200409

 livercarcinomaSubstitution - Missense

c.664C>G; p.Q222E; 5:134200409-134200409

 livercarcinomaSubstitution - Missense

c.862C>T; p.Q288*; 5:134197840-134197840

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.793T>A; p.Y265N; 5:134199150-134199150

 central_nervous_system; braingliomaSubstitution - Missense

c.676G>C; p.E226Q; 5:134200397-134200397

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.334A>G; p.T112A; 5:134202000-134202000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.837C>T; p.D279D; 5:134199106-134199106

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.508C>A; p.L170I; 5:134201053-134201053

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.460C>T; p.P154S; 5:134201874-134201874

 breastcarcinomaSubstitution - Missense

c.377T>C; p.V126A; 5:134201957-134201957

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.331A>T; p.I111F; 5:134202003-134202003

 livercarcinomaSubstitution - Missense

c.673T>C; p.S225P; 5:134200400-134200400

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.28C>T; p.L10L; 5:134225834-134225834

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.194T>C; p.L65P; 5:134206040-134206040

 central_nervous_system; brainglioma; oligoastrocytomaSubstitution - Missense

c.492C>A; p.F164L; 5:134201069-134201069

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.752G>T; p.C251F; 5:134199191-134199191

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.200_218del19; p.E67fs*29; 5:134206016-134206034

 breastcarcinomaDeletion - Frameshift

c.617G>A; p.R206H; 5:134200456-134200456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.617G>A; p.R206H; 5:134200456-134200456

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.640C>T; p.R214*; 5:134200433-134200433

 skin; abdomenmalignant_melanomaSubstitution - Nonsense

c.159T>C; p.T53T; 5:134206075-134206075

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.889G>A; p.E297K; 5:134197813-134197813

 breastcarcinomaSubstitution - Missense

c.924C>A; p.F308L; 5:134197778-134197778

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.803G>A; p.R268H; 5:134199140-134199140

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.589G>T; p.D197Y; 5:134200484-134200484

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.363A>G; p.R121R; 5:134201971-134201971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.363A>G; p.R121R; 5:134201971-134201971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.343C>T; p.R115*; 5:134201991-134201991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.145C>T; p.R49*; 5:134206089-134206089

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.145C>T; p.R49*; 5:134206089-134206089

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.283G>A; p.E95K; 5:134205951-134205951

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.659T>C; p.F220S; 5:134200414-134200414

 skinmalignant_melanomaSubstitution - Missense

c.329G>A; p.R110H; 5:134202005-134202005

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.329G>A; p.R110H; 5:134202005-134202005

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219C>T; p.G73G; 5:134206015-134206015

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.526A>G; p.T176A; 5:134201035-134201035

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.408A>G; p.K136K; 5:134201926-134201926

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.840T>C; p.D280D; 5:134199103-134199103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.115C>T; p.L39L; 5:134206119-134206119

 skinmalignant_melanomaSubstitution - coding silent

c.914delC; p.P305fs*>5; 5:134197788-134197788

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.389A>G; p.Y130C; 5:134201945-134201945

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.733A>T; p.M245L; 5:134200340-134200340

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.362G>C; p.R121T; 5:134201972-134201972

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.489C>A; p.I163I; 5:134201072-134201072

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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