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

Basic Information

Gene ID

5499

Name

PPP1CA

Synonymous

protein phosphatase 1, catalytic subunit, alpha isozyme;PPP1CA;protein phosphatase 1, catalytic subunit, alpha isozyme

Definition

protein phosphatase 1, catalytic subunit, alpha isoform|serine/threonine protein phosphatase PP1-alpha 1 catalytic subunit|serine/threonine-protein phosphatase PP1-alpha catalytic subunit

Position

11q13

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 0.13.

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.441A>C; p.K147N; 11:67399643-67399643

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.468C>T; p.F156F; 11:67399616-67399616

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.61G>T; p.G21C; 11:67401194-67401194

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.410A>G; p.Y137C; 11:67400697-67400697

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.139C>T; p.L47L; 11:67401116-67401116

 breastcarcinomaSubstitution - coding silent

c.227T>G; p.F76C; 11:67400880-67400880

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.56-1G>A; p.?; 11:67401200-67401200

 stomachcarcinoma; adenocarcinomaUnknown

c.73G>T; p.G25C; 11:67401182-67401182

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.378G>C; p.E126D; 11:67400729-67400729

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.73G>T; p.G25C; 11:67401182-67401182

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.73G>T; p.G25C; 11:67401182-67401182

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.73G>T; p.G25C; 11:67401182-67401182

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.815A>G; p.Y272C; 11:67398789-67398789

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.440A>T; p.K147I; 11:67399644-67399644

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.322C>T; p.L108L; 11:67400785-67400785

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.975C>T; p.S325S; 11:67398553-67398553

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.149C>A; p.P50H; 11:67401106-67401106

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.428G>A; p.R143H; 11:67399656-67399656

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.428G>A; p.R143H; 11:67399656-67399656

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.211G>C; p.D71H; 11:67400896-67400896

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.220C>A; p.R74R; 11:67400887-67400887

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.984C>T; p.A328A; 11:67398544-67398544

 skinmalignant_melanomaSubstitution - coding silent

c.580G>A; p.D194N; 11:67399107-67399107

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.445_446delTG; p.W149fs*5; 11:67399638-67399639

 pancreascarcinoma; ductal_carcinomaDeletion - Frameshift

c.579A>T; p.T193T; 11:67399108-67399108

 breastcarcinomaSubstitution - coding silent

c.418+2_418+3delTG; p.?; 11:67400686-67400687

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.917A>T; p.Y306F; 11:67398611-67398611

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.921G>A; p.G307G; 11:67398607-67398607

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.915G>A; p.K305K; 11:67398613-67398613

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.658G>A; p.D220N; 11:67399029-67399029

 skinmalignant_melanomaSubstitution - Missense

c.592C>T; p.Q198*; 11:67399095-67399095

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.879C>T; p.F293F; 11:67398725-67398725

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.948C>A; p.G316G; 11:67398580-67398580

 pancreascarcinomaSubstitution - coding silent

c.948C>A; p.G316G; 11:67398580-67398580

 pancreasNSSubstitution - coding silent

c.109G>T; p.G37C; 11:67401146-67401146

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.757G>A; p.D253N; 11:67398847-67398847

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.238G>A; p.G80S; 11:67400869-67400869

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.348G>T; p.E116D; 11:67400759-67400759

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.571C>T; p.R191W; 11:67399116-67399116

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.754G>A; p.E252K; 11:67398850-67398850

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.652G>A; p.E218K; 11:67399035-67399035

 skinmalignant_melanomaSubstitution - Missense

c.271G>T; p.G91W; 11:67400836-67400836

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.643G>T; p.G215C; 11:67399044-67399044

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.244C>T; p.P82S; 11:67400863-67400863

 skinmalignant_melanomaSubstitution - Missense

c.342_343CC>TT; p.P115S; 11:67400764-67400765

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.917A>G; p.Y306C; 11:67398611-67398611

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.651C>T; p.G217G; 11:67399036-67399036

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.269T>C; p.L90P; 11:67400838-67400838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.534G>A; p.P178P; 11:67399153-67399153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.499G>T; p.E167*; 11:67399585-67399585

 ovaryother; neoplasmSubstitution - Nonsense

c.288G>C; p.R96S; 11:67400819-67400819

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.288G>C; p.R96S; 11:67400819-67400819

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.607G>A; p.D203N; 11:67399080-67399080

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.574C>G; p.P192A; 11:67399113-67399113

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.290G>A; p.G97D; 11:67400817-67400817

 stomachadenocarcinomaSubstitution - Missense

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