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

Basic Information

Gene ID

5533

Name

PPP3CC

Synonymous

protein phosphatase 3, catalytic subunit, gamma isozyme;PPP3CC;protein phosphatase 3, catalytic subunit, gamma isozyme

Definition

CAM-PRP catalytic subunit|calcineurin, testis-specific catalytic subunit|calmodulin-dependent calcineurin A subunit gamma isoform|protein phosphatase 2B, catalytic subunit, gamma isoform|protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isofor

Position

8p21.3

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 0.29.

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.430C>T; p.R144W; 8:22498058-22498058

 skinmalignant_melanomaSubstitution - Missense

c.430C>T; p.R144W; 8:22498058-22498058

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1438C>T; p.R480*; 8:22540701-22540701

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1438C>T; p.R480*; 8:22540701-22540701

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.55C>T; p.P19S; 8:22474959-22474959

 skinmalignant_melanomaSubstitution - Missense

c.1114G>T; p.E372*; 8:22528550-22528550

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.644C>T; p.T215M; 8:22513306-22513306

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1222C>T; p.R408W; 8:22532305-22532305

 pancreascarcinomaSubstitution - Missense

c.1222C>T; p.R408W; 8:22532305-22532305

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.348G>T; p.V116V; 8:22475600-22475600

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.655G>A; p.A219T; 8:22513317-22513317

 prostatecarcinomaSubstitution - Missense

c.1278C>T; p.L426L; 8:22532975-22532975

 skinmalignant_melanomaSubstitution - coding silent

c.530C>A; p.T177K; 8:22511131-22511131

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1095C>G; p.L365L; 8:22528531-22528531

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.525G>A; p.M175I; 8:22511126-22511126

 livercarcinomaSubstitution - Missense

c.97G>C; p.E33Q; 8:22475001-22475001

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.791T>G; p.F264C; 8:22522511-22522511

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.487C>T; p.R163*; 8:22511088-22511088

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.487C>T; p.R163*; 8:22511088-22511088

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.853C>T; p.R285*; 8:22522659-22522659

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.487C>T; p.R163*; 8:22511088-22511088

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.853C>T; p.R285*; 8:22522659-22522659

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.749G>A; p.R250Q; 8:22513411-22513411

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.7G>A; p.G3R; 8:22441416-22441416

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.432G>C; p.R144R; 8:22498060-22498060

 breastcarcinomaSubstitution - coding silent

c.587G>A; p.G196E; 8:22511188-22511188

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1484C>A; p.S495*; 8:22540747-22540747

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1456G>A; p.A486T; 8:22540719-22540719

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.548T>G; p.L183R; 8:22511149-22511149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.943+2T>C; p.?; 8:22522751-22522751

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.74G>A; p.R25Q; 8:22474978-22474978

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.379C>T; p.L127L; 8:22498007-22498007

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.911delC; p.N306fs*3; 8:22522717-22522717

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.913C>T; p.P305S; 8:22522719-22522719

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.247+1G>T; p.?; 8:22475152-22475152

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.512A>G; p.Y171C; 8:22511113-22511113

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>T; p.E359*; 8:22528511-22528511

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1351G>T; p.A451S; 8:22539498-22539498

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.185A>G; p.N62S; 8:22475089-22475089

 livercarcinomaSubstitution - Missense

c.185A>G; p.N62S; 8:22475089-22475089

 livercarcinomaSubstitution - Missense

c.455T>C; p.L152P; 8:22498083-22498083

 skinmalignant_melanomaSubstitution - Missense

c.811C>T; p.L271L; 8:22522531-22522531

 livercarcinomaSubstitution - coding silent

c.811C>T; p.L271L; 8:22522531-22522531

 livercarcinomaSubstitution - coding silent

c.390G>T; p.W130C; 8:22498018-22498018

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1419T>C; p.I473I; 8:22540682-22540682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1367C>T; p.S456L; 8:22540630-22540630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.748C>T; p.R250*; 8:22513410-22513410

 skinmalignant_melanomaSubstitution - Nonsense

c.1173G>A; p.R391R; 8:22532256-22532256

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.488G>A; p.R163Q; 8:22511089-22511089

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.177G>A; p.K59K; 8:22475081-22475081

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1438C>A; p.R480R; 8:22540701-22540701

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.574C>A; p.L192I; 8:22511175-22511175

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.505C>T; p.Q169*; 8:22511106-22511106

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.115G>T; p.V39F; 8:22475019-22475019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.273C>A; p.F91L; 8:22475525-22475525

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1214C>T; p.S405L; 8:22532297-22532297

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.711T>G; p.N237K; 8:22513373-22513373

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1273_1274AC>TT; p.T425L; 8:22532970-22532971

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.477A>G; p.K159K; 8:22498105-22498105

 skinmalignant_melanomaSubstitution - coding silent

c.719C>T; p.T240I; 8:22513381-22513381

 skin; trunkmalignant_melanomaSubstitution - Missense

c.151C>T; p.R51*; 8:22475055-22475055

 breastcarcinomaSubstitution - Nonsense

c.1354A>G; p.I452V; 8:22540617-22540617

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.765C>T; p.F255F; 8:22513427-22513427

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1279C>T; p.P427S; 8:22532976-22532976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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