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

Basic Information

Gene ID

5519

Name

PPP2R1B

Synonymous

protein phosphatase 2, regulatory subunit A, beta;PPP2R1B;protein phosphatase 2, regulatory subunit A, beta

Definition

PP2A, subunit A, PR65-beta isoform|PP2A, subunit A, R1-beta isoform|protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform|protein phosphatase 2, structural/regulatory subunit A, beta|serine/threonine-protein phosphatase 2A 65 kDa regulat

Position

11q23.2

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

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 0.05.

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.364G>T; p.E122*; 11:111760994-111760994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1573G>A; p.G525S; 11:111742647-111742647

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1346A>C; p.E449A; 11:111748007-111748007

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1269G>T; p.L423L; 11:111752228-111752228

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1626A>G; p.G542G; 11:111742594-111742594

 breastcarcinomaSubstitution - coding silent

c.1294C>T; p.R432C; 11:111752203-111752203

 large_intestine; rectumadenomaSubstitution - Missense

c.1805T>C; p.L602P; 11:111737554-111737554

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.957A>G; p.K319K; 11:111754981-111754981

 thyroidcarcinomaSubstitution - coding silent

c.1724T>C; p.V575A; 11:111742118-111742118

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.349C>T; p.R117C; 11:111761009-111761009

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.180A>G; p.R60R; 11:111765319-111765319

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1371T>C; p.S457S; 11:111747982-111747982

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.697C>T; p.R233C; 11:111755441-111755441

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.782G>T; p.R261L; 11:111755356-111755356

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.119G>A; p.R40Q; 11:111765380-111765380

 skinmalignant_melanomaSubstitution - Missense

c.1979T>G; p.V660G; 11:111726990-111726990

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1931G>A; p.R644H; 11:111727038-111727038

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1640A>T; p.N547I; 11:111742580-111742580

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.931C>T; p.R311W; 11:111755007-111755007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.23G>T; p.G8V; 11:111766339-111766339

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1434C>T; p.L478L; 11:111743496-111743496

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.45T>G; p.G15G; 11:111766317-111766317

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1042G>A; p.D348N; 11:111753565-111753565

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1025T>G; p.I342R; 11:111754503-111754503

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1552A>G; p.N518D; 11:111743378-111743378

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1904T>C; p.M635T; 11:111737455-111737455

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1652A>G; p.N551S; 11:111742568-111742568

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.502C>T; p.P168S; 11:111760856-111760856

 skinmalignant_melanomaSubstitution - Missense

c.1652A>G; p.N551S; 11:111742568-111742568

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1308T>C; p.I436I; 11:111752189-111752189

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1888G>A; p.V630M; 11:111737471-111737471

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1059C>G; p.V353V; 11:111753548-111753548

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1059C>G; p.V353V; 11:111753548-111753548

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1554+7A>G; p.?; 11:111743369-111743369

 livercarcinomaUnknown

c.1341T>C; p.G447G; 11:111748012-111748012

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1160A>G; p.D387G; 11:111753447-111753447

 livercarcinomaSubstitution - Missense

c.1160A>G; p.D387G; 11:111753447-111753447

 livercarcinomaSubstitution - Missense

c.330T>C; p.T110T; 11:111761028-111761028

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1404C>T; p.Y468Y; 11:111743526-111743526

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.114+7G>T; p.?; 11:111766241-111766241

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.1370C>T; p.S457F; 11:111747983-111747983

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1354G>C; p.D452H; 11:111747999-111747999

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1370C>T; p.S457F; 11:111747983-111747983

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.995C>G; p.T332S; 11:111754533-111754533

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.91G>A; p.E31K; 11:111766271-111766271

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1119C>A; p.T373T; 11:111753488-111753488

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1945G>A; p.D649N; 11:111727024-111727024

 meningesmeningiomaSubstitution - Missense

c.592G>T; p.A198S; 11:111759899-111759899

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1603C>T; p.P535S; 11:111742617-111742617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.746A>G; p.Q249R; 11:111755392-111755392

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.815G>A; p.R272H; 11:111755323-111755323

 livercarcinomaSubstitution - Missense

c.862C>T; p.P288S; 11:111755076-111755076

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1953T>C; p.L651L; 11:111727016-111727016

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1441C>G; p.L481V; 11:111743489-111743489

 livercarcinomaSubstitution - Missense

c.1441C>G; p.L481V; 11:111743489-111743489

 livercarcinomaSubstitution - Missense

c.1012A>T; p.I338F; 11:111754516-111754516

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1188C>G; p.I396M; 11:111752309-111752309

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.409G>T; p.E137*; 11:111760949-111760949

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1781C>A; p.A594D; 11:111742061-111742061

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1781C>A; p.A594D; 11:111742061-111742061

 large_intestine; coloncarcinomaSubstitution - Missense

c.113A>G; p.Q38R; 11:111766249-111766249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1735T>C; p.L579L; 11:111742107-111742107

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1735T>C; p.L579L; 11:111742107-111742107

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1972G>A; p.E658K; 11:111726997-111726997

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1483G>A; p.V495I; 11:111743447-111743447

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.48A>C; p.G16G; 11:111766314-111766314

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1765delT; p.Y589fs*7; 11:111742077-111742077

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1405G>A; p.A469T; 11:111743525-111743525

 large_intestineadenomaSubstitution - Missense

c.223G>A; p.D75N; 11:111764888-111764888

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.933G>A; p.R311R; 11:111755005-111755005

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.970A>G; p.N324D; 11:111754558-111754558

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.809G>A; p.R270H; 11:111755329-111755329

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.520G>C; p.V174L; 11:111760838-111760838

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1608C>T; p.I536I; 11:111742612-111742612

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.814C>T; p.R272C; 11:111755324-111755324

 skinmalignant_melanomaSubstitution - Missense

c.155T>C; p.L52P; 11:111765344-111765344

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.142T>C; p.S48P; 11:111765357-111765357

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.654T>C; p.V218V; 11:111759837-111759837

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1970C>A; p.A657E; 11:111726999-111726999

 pancreascarcinomaSubstitution - Missense

c.1603C>G; p.P535A; 11:111742617-111742617

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.653T>C; p.V218A; 11:111759838-111759838

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.167T>C; p.V56A; 11:111765332-111765332

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.703C>T; p.L235F; 11:111755435-111755435

 prostatecarcinomaSubstitution - Missense

c.1999G>C; p.D667H; 11:111726970-111726970

 breastcarcinomaSubstitution - Missense

c.1201G>T; p.D401Y; 11:111752296-111752296

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

')