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

Basic Information

Gene ID

5527

Name

PPP2R5C

Synonymous

protein phosphatase 2, regulatory subunit B', gamma;PPP2R5C;protein phosphatase 2, regulatory subunit B', gamma

Definition

B' alpha regulatory subunit|PP2A B subunit isoform B'-gamma|PP2A B subunit isoform B56-gamma|PP2A B subunit isoform PR61-gamma|PP2A B subunit isoform R5-gamma|protein phosphatase 2, regulatory subunit B (B56), gamma isoform|protein phosphatase 2, regulato

Position

14q32.31

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 0.15.

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.1195G>C; p.E399Q; 14:101909632-101909632

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1127G>A; p.R376H; 14:101906505-101906505

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.440C>T; p.S147F; 14:101883291-101883291

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563G>A; p.R188K; 14:101883496-101883496

 breastcarcinomaSubstitution - Missense

c.453A>G; p.Q151Q; 14:101883304-101883304

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1051A>G; p.N351D; 14:101906429-101906429

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1327-1G>A; p.?; 14:101917830-101917830

 breastcarcinomaUnknown

c.17A>G; p.K6R; 14:101809959-101809959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1114C>T; p.P372S; 14:101906492-101906492

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.201A>T; p.E67D; 14:101856792-101856792

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.707C>T; p.A236V; 14:101893017-101893017

 skinmalignant_melanomaSubstitution - Missense

c.643A>G; p.T215A; 14:101890250-101890250

 skinmalignant_melanomaSubstitution - Missense

c.332C>A; p.S111Y; 14:101882198-101882198

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.165T>C; p.F55F; 14:101856756-101856756

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.165T>C; p.F55F; 14:101856756-101856756

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.165T>C; p.F55F; 14:101856756-101856756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.314G>A; p.R105Q; 14:101882180-101882180

 breastcarcinomaSubstitution - Missense

c.314G>A; p.R105Q; 14:101882180-101882180

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.165T>C; p.F55F; 14:101856756-101856756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.165T>C; p.F55F; 14:101856756-101856756

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.1255G>T; p.E419*; 14:101912402-101912402

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.243C>T; p.T81T; 14:101856834-101856834

 skinmalignant_melanomaSubstitution - coding silent

c.92G>A; p.R31Q; 14:101810034-101810034

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.636T>C; p.I212I; 14:101890243-101890243

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.778C>A; p.L260M; 14:101893088-101893088

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1431C>T; p.D477D; 14:101917935-101917935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1431C>T; p.D477D; 14:101917935-101917935

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.985C>A; p.R329R; 14:101901851-101901851

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.749_760del12; p.L251_L254delLLPL; 14:101893059-101893070

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.795C>T; p.P265P; 14:101893105-101893105

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.139C>T; p.R47C; 14:101856730-101856730

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151G>A; p.V51I; 14:101856742-101856742

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1566C>T; p.D522D; 14:101925263-101925263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1399G>A; p.D467N; 14:101917903-101917903

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1534C>A; p.H512N; 14:101925231-101925231

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.715C>G; p.L239V; 14:101893025-101893025

 prostateadenomaSubstitution - Missense

c.1543G>C; p.A515P; 14:101925240-101925240

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1543G>C; p.A515P; 14:101925240-101925240

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.646G>A; p.E216K; 14:101890253-101890253

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.163T>C; p.F55L; 14:101856754-101856754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.95-1G>A; p.?; 14:101856685-101856685

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.521A>C; p.E174A; 14:101883454-101883454

 kidneyother; neoplasmSubstitution - Missense

c.784G>A; p.V262I; 14:101893094-101893094

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.364G>A; p.E122K; 14:101882230-101882230

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.364G>A; p.E122K; 14:101882230-101882230

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.601A>G; p.R201G; 14:101883534-101883534

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.P299S; 14:101901761-101901761

 skinmalignant_melanomaSubstitution - Missense

c.338C>A; p.P113H; 14:101882204-101882204

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.313C>T; p.R105*; 14:101882179-101882179

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.313C>T; p.R105*; 14:101882179-101882179

 prostatecarcinomaSubstitution - Nonsense

c.524A>T; p.D175V; 14:101883457-101883457

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.840_841CC>TT; p.L281F; 14:101894548-101894549

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.526C>T; p.P176S; 14:101883459-101883459

 skinmalignant_melanomaSubstitution - Missense

c.632T>G; p.F211C; 14:101890239-101890239

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1541G>T; p.R514M; 14:101925238-101925238

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1323C>T; p.P441P; 14:101912470-101912470

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.44C>T; p.A15V; 14:101809986-101809986

 thyroidcarcinomaSubstitution - Missense

c.629+8A>G; p.?; 14:101883570-101883570

 stomachcarcinoma; adenocarcinomaUnknown

c.629+8A>G; p.?; 14:101883570-101883570

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.629+8A>G; p.?; 14:101883570-101883570

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1005C>T; p.V335V; 14:101901871-101901871

 large_intestine; rectumNSSubstitution - coding silent

c.1084delA; p.N362fs*28; 14:101906462-101906462

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.776C>A; p.S259Y; 14:101893086-101893086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.776C>A; p.S259Y; 14:101893086-101893086

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1277G>A; p.R426Q; 14:101912424-101912424

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1441C>T; p.Q481*; 14:101917945-101917945

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1007C>A; p.S336Y; 14:101901873-101901873

 breastcarcinomaSubstitution - Missense

c.361G>T; p.E121*; 14:101882227-101882227

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.149G>C; p.C50S; 14:101856740-101856740

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1341T>G; p.S447R; 14:101917845-101917845

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1091C>T; p.A364V; 14:101906469-101906469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.891C>T; p.H297H; 14:101901757-101901757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1007C>T; p.S336F; 14:101901873-101901873

 skinmalignant_melanomaSubstitution - Missense

c.1453G>C; p.D485H; 14:101925150-101925150

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.690-1G>A; p.?; 14:101892999-101892999

 breastcarcinomaUnknown

c.523G>T; p.D175Y; 14:101883456-101883456

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1099C>T; p.L367L; 14:101906477-101906477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1236C>G; p.F412L; 14:101909673-101909673

 breastcarcinomaSubstitution - Missense

c.1228C>T; p.Q410*; 14:101909665-101909665

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.522A>G; p.E174E; 14:101883455-101883455

 kidneyother; neoplasmSubstitution - coding silent

c.855G>T; p.V285V; 14:101901721-101901721

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1545C>T; p.A515A; 14:101925242-101925242

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1545C>T; p.A515A; 14:101925242-101925242

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1197G>T; p.E399D; 14:101909634-101909634

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.614A>G; p.N205S; 14:101883547-101883547

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.856G>A; p.V286M; 14:101901722-101901722

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1468C>T; p.R490C; 14:101925165-101925165

 skin; trunkmalignant_melanomaSubstitution - Missense

c.145_147delTGT; p.C49delC; 14:101856736-101856738

 lungcarcinoma; adenocarcinomaDeletion - In frame

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