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

Basic Information

Gene ID

5522

Name

PPP2R2C

Synonymous

protein phosphatase 2, regulatory subunit B, gamma;PPP2R2C;protein phosphatase 2, regulatory subunit B, gamma

Definition

PP2A, subunit B, B-gamma isoform|PP2A, subunit B, B55-gamma isoform|PP2A, subunit B, PR55-gamma isoform|PP2A, subunit B, R2-gamma isoform|gamma isoform of regulatory subunit B55, protein phosphatase 2|phosphoprotein phosphatase 2A BR gamma regulatory chai

Position

4p16.1

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

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 0.03.

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.573G>T; p.A191A; 4:6372575-6372575

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.489C>G; p.S163R; 4:6372659-6372659

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.196G>T; p.E66*; 4:6378545-6378545

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1164C>G; p.L388L; 4:6323482-6323482

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1164C>G; p.L388L; 4:6323482-6323482

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.609C>A; p.I203I; 4:6372539-6372539

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1048G>A; p.D350N; 4:6329266-6329266

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.240T>C; p.F80F; 4:6378501-6378501

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1138G>A; p.E380K; 4:6323508-6323508

 skinmalignant_melanomaSubstitution - Missense

c.66T>A; p.T22T; 4:6472164-6472164

 kidneyother; neoplasmSubstitution - coding silent

c.1069delG; p.A357fs*17; 4:6323577-6323577

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1172G>A; p.R391Q; 4:6323474-6323474

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1069delG; p.A357fs*17; 4:6323577-6323577

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.438G>A; p.T146T; 4:6375828-6375828

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1174C>T; p.R392C; 4:6323472-6323472

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.382G>A; p.E128K; 4:6375884-6375884

 skin; trunkmalignant_melanomaSubstitution - Missense

c.287A>T; p.K96M; 4:6378454-6378454

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.93G>A; p.E31E; 4:6381072-6381072

 ovaryother; neoplasmSubstitution - coding silent

c.1169C>T; p.P390L; 4:6323477-6323477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.914A>G; p.K305R; 4:6333608-6333608

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1287C>T; p.I429I; 4:6323359-6323359

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.47G>A; p.R16Q; 4:6472183-6472183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1204G>A; p.D402N; 4:6323442-6323442

 skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.F73F; 4:6378522-6378522

 skinmalignant_melanomaSubstitution - coding silent

c.1052+2T>C; p.?; 4:6329260-6329260

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1173G>A; p.R391R; 4:6323473-6323473

 skinmalignant_melanomaSubstitution - coding silent

c.696G>A; p.P232P; 4:6347940-6347940

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.345C>G; p.I115M; 4:6375921-6375921

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.499A>G; p.I167V; 4:6372649-6372649

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.499A>G; p.I167V; 4:6372649-6372649

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.554G>A; p.C185Y; 4:6372594-6372594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.584G>A; p.R195H; 4:6372564-6372564

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1139A>G; p.E380G; 4:6323507-6323507

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.120C>A; p.A40A; 4:6381045-6381045

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.831C>T; p.F277F; 4:6333691-6333691

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.820C>T; p.R274C; 4:6333702-6333702

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.403G>A; p.E135K; 4:6375863-6375863

 skinmalignant_melanomaSubstitution - Missense

c.666G>A; p.T222T; 4:6347970-6347970

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.666G>A; p.T222T; 4:6347970-6347970

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.180G>A; p.A60A; 4:6378561-6378561

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.715G>A; p.V239I; 4:6347921-6347921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1005C>T; p.N335N; 4:6329309-6329309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.265G>A; p.E89K; 4:6378476-6378476

 skinmalignant_melanomaSubstitution - Missense

c.569C>T; p.S190L; 4:6372579-6372579

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1270G>A; p.E424K; 4:6323376-6323376

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1017C>T; p.F339F; 4:6329297-6329297

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.980G>A; p.S327N; 4:6329334-6329334

 stomachadenocarcinomaSubstitution - Missense

c.364G>A; p.E122K; 4:6375902-6375902

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.821G>A; p.R274H; 4:6333701-6333701

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1054G>A; p.V352I; 4:6323592-6323592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.195C>T; p.G65G; 4:6378546-6378546

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.436A>G; p.T146A; 4:6375830-6375830

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.195C>T; p.G65G; 4:6378546-6378546

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.363C>A; p.T121T; 4:6375903-6375903

 ovaryother; neoplasmSubstitution - coding silent

c.645G>A; p.P215P; 4:6347991-6347991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.933G>T; p.M311I; 4:6333589-6333589

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.139C>T; p.R47W; 4:6381026-6381026

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.665C>A; p.T222K; 4:6347971-6347971

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.850G>A; p.V284M; 4:6333672-6333672

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.32A>T; p.N11I; 4:6472198-6472198

 skinmalignant_melanomaSubstitution - Missense

c.663T>C; p.L221L; 4:6347973-6347973

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.432G>A; p.T144T; 4:6375834-6375834

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.437C>T; p.T146M; 4:6375829-6375829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1337T>C; p.M446T; 4:6323309-6323309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.135C>T; p.G45G; 4:6381030-6381030

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1100G>A; p.R367Q; 4:6323546-6323546

 central_nervous_system; braingliomaSubstitution - Missense

c.249C>T; p.L83L; 4:6378492-6378492

 skinmalignant_melanomaSubstitution - coding silent

c.630C>T; p.I210I; 4:6348006-6348006

 skinmalignant_melanomaSubstitution - coding silent

c.488G>A; p.S163N; 4:6372660-6372660

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.881G>A; p.R294H; 4:6333641-6333641

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1095C>A; p.F365L; 4:6323551-6323551

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.539C>T; p.S180F; 4:6372609-6372609

 skinmalignant_melanomaSubstitution - Missense

c.1256C>A; p.A419D; 4:6323390-6323390

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.143T>C; p.V48A; 4:6381022-6381022

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.143T>C; p.V48A; 4:6381022-6381022

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.880C>T; p.R294C; 4:6333642-6333642

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.512G>A; p.G171D; 4:6372636-6372636

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1029A>G; p.E343E; 4:6329285-6329285

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1112G>A; p.R371Q; 4:6323534-6323534

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.944C>T; p.P315L; 4:6333578-6333578

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.876C>T; p.S292S; 4:6333646-6333646

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.479T>G; p.V160G; 4:6372669-6372669

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1034C>T; p.A345V; 4:6329280-6329280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.897G>A; p.R299R; 4:6333625-6333625

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.370G>A; p.D124N; 4:6375896-6375896

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.1183G>A; p.V395M; 4:6323463-6323463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153C>T; p.R385W; 4:6323493-6323493

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.650A>G; p.N217S; 4:6347986-6347986

 skinmalignant_melanomaSubstitution - Missense

c.618G>A; p.R206R; 4:6372530-6372530

 skinmalignant_melanomaSubstitution - coding silent

c.908C>T; p.T303I; 4:6333614-6333614

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.884A>G; p.Y295C; 4:6333638-6333638

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.498G>A; p.R166R; 4:6372650-6372650

 skinmalignant_melanomaSubstitution - coding silent

c.24G>A; p.R8R; 4:6472206-6472206

 skinmalignant_melanomaSubstitution - coding silent

c.24G>A; p.R8R; 4:6472206-6472206

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.648C>A; p.A216A; 4:6347988-6347988

 livercarcinomaSubstitution - coding silent

c.583C>T; p.R195C; 4:6372565-6372565

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.T204T; 4:6372536-6372536

 pancreascarcinomaSubstitution - coding silent

c.897G>T; p.R299R; 4:6333625-6333625

 ovaryother; neoplasmSubstitution - coding silent

c.695C>T; p.P232L; 4:6347941-6347941

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1254G>A; p.T418T; 4:6323392-6323392

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.448G>A; p.V150M; 4:6372700-6372700

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.D220N; 4:6347978-6347978

 skinmalignant_melanomaSubstitution - Missense

c.932T>A; p.M311K; 4:6333590-6333590

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.368G>A; p.R123Q; 4:6375898-6375898

 skinmalignant_melanomaSubstitution - Missense

c.771G>A; p.L257L; 4:6347865-6347865

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.306C>T; p.N102N; 4:6378435-6378435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.306C>T; p.N102N; 4:6378435-6378435

 prostatecarcinomaSubstitution - coding silent

c.714C>T; p.F238F; 4:6347922-6347922

 skinmalignant_melanomaSubstitution - coding silent

c.714C>T; p.F238F; 4:6347922-6347922

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.783T>C; p.H261H; 4:6347853-6347853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.87C>T; p.T29T; 4:6381078-6381078

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1059C>T; p.I353I; 4:6323587-6323587

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.597G>T; p.W199C; 4:6372551-6372551

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.742C>T; p.R248W; 4:6347894-6347894

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.999C>T; p.Y333Y; 4:6329315-6329315

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1152C>T; p.P384P; 4:6323494-6323494

 skinmalignant_melanomaSubstitution - coding silent

c.224G>C; p.S75T; 4:6378517-6378517

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.486G>A; p.V162V; 4:6372662-6372662

 skinmalignant_melanomaSubstitution - coding silent

c.176delA; p.N59fs*30; 4:6378565-6378565

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.176delA; p.N59fs*30; 4:6378565-6378565

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.533C>T; p.S178F; 4:6372615-6372615

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.861G>A; p.V287V; 4:6333661-6333661

 skinmalignant_melanomaSubstitution - coding silent

c.344T>C; p.I115T; 4:6375922-6375922

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.501C>A; p.I167I; 4:6372647-6372647

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.462G>T; p.K154N; 4:6372686-6372686

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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