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

Basic Information

Gene ID

5494

Name

PPM1A

Synonymous

protein phosphatase, Mg2+/Mn2+ dependent, 1A;PPM1A;protein phosphatase, Mg2+/Mn2+ dependent, 1A

Definition

protein phosphatase 1A|protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform

Position

14q23.1

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.532G>A; p.A178T; 14:60283235-60283235

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.450A>G; p.L150L; 14:60283153-60283153

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.827T>C; p.L276S; 14:60283530-60283530

 livercarcinomaSubstitution - Missense

c.827T>C; p.L276S; 14:60283530-60283530

 livercarcinomaSubstitution - Missense

c.647C>T; p.S216L; 14:60283350-60283350

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.263C>A; p.S88Y; 14:60282966-60282966

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.97C>T; p.R33C; 14:60282800-60282800

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.336G>A; p.M112I; 14:60283039-60283039

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.275C>T; p.P92L; 14:60282978-60282978

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.186T>C; p.H62H; 14:60282889-60282889

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.979G>A; p.V327I; 14:60289832-60289832

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.971G>A; p.G324E; 14:60289824-60289824

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.424A>G; p.I142V; 14:60283127-60283127

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1119+1G>C; p.?; 14:60291455-60291455

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.98G>A; p.R33H; 14:60282801-60282801

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.842G>A; p.R281Q; 14:60285631-60285631

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.294G>T; p.K98N; 14:60282997-60282997

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.740A>G; p.N247S; 14:60283443-60283443

 livercarcinomaSubstitution - Missense

c.740A>G; p.N247S; 14:60283443-60283443

 livercarcinomaSubstitution - Missense

c.740A>G; p.N247S; 14:60283443-60283443

 livercarcinomaSubstitution - Missense

c.1000A>G; p.M334V; 14:60289853-60289853

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.535G>A; p.G179S; 14:60283238-60283238

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.483A>G; p.T161T; 14:60283186-60283186

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.521G>A; p.R174Q; 14:60283224-60283224

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.977G>A; p.G326D; 14:60289830-60289830

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.468A>C; p.K156N; 14:60283171-60283171

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.D329N; 14:60289838-60289838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.212G>A; p.C71Y; 14:60282915-60282915

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.212G>A; p.C71Y; 14:60282915-60282915

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.194C>G; p.S65C; 14:60282897-60282897

 breastcarcinomaSubstitution - Missense

c.688G>T; p.D230Y; 14:60283391-60283391

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.30G>A; p.M10I; 14:60282733-60282733

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.228A>G; p.L76L; 14:60282931-60282931

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.771A>T; p.R257S; 14:60283474-60283474

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.275_276delCT; p.P92fs*17; 14:60282978-60282979

 skin; scalpmalignant_melanomaDeletion - Frameshift

c.1091G>C; p.R364T; 14:60291426-60291426

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1004G>A; p.R335H; 14:60289857-60289857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1054G>T; p.A352S; 14:60289907-60289907

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.203C>T; p.A68V; 14:60282906-60282906

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.457A>T; p.R153W; 14:60283160-60283160

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.123G>T; p.T41T; 14:60282826-60282826

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.574G>C; p.A192P; 14:60283277-60283277

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.816C>T; p.V272V; 14:60283519-60283519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.835-1G>T; p.?; 14:60285623-60285623

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.966G>T; p.K322N; 14:60289819-60289819

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.81C>A; p.S27R; 14:60282784-60282784

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.132C>T; p.I44I; 14:60282835-60282835

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.953-3C>T; p.?; 14:60289803-60289803

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.808G>A; p.E270K; 14:60283511-60283511

 breastcarcinomaSubstitution - Missense

c.343A>G; p.M115V; 14:60283046-60283046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.533C>T; p.A178V; 14:60283236-60283236

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.361G>A; p.G121S; 14:60283064-60283064

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1085A>G; p.Y362C; 14:60291420-60291420

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.719G>A; p.G240D; 14:60283422-60283422

 bone; pelvischondrosarcomaSubstitution - Missense

c.651A>T; p.P217P; 14:60283354-60283354

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.236T>C; p.I79T; 14:60282939-60282939

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.651A>T; p.P217P; 14:60283354-60283354

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.588C>A; p.A196A; 14:60283291-60283291

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.996T>C; p.H332H; 14:60289849-60289849

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.994C>T; p.H332Y; 14:60289847-60289847

 skinmalignant_melanomaSubstitution - Missense

c.1062G>T; p.K354N; 14:60291397-60291397

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.993C>T; p.V331V; 14:60289846-60289846

 livercarcinomaSubstitution - coding silent

c.293A>G; p.K98R; 14:60282996-60282996

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.586G>T; p.A196S; 14:60283289-60283289

 skinmalignant_melanomaSubstitution - Missense

c.1014G>T; p.A338A; 14:60289867-60289867

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.156G>A; p.S52S; 14:60282859-60282859

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.546A>G; p.V182V; 14:60283249-60283249

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.326A>G; p.D109G; 14:60283029-60283029

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664C>T; p.H222Y; 14:60283367-60283367

 skinmalignant_melanomaSubstitution - Missense

c.1080C>T; p.A360A; 14:60291415-60291415

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.31G>A; p.E11K; 14:60282734-60282734

 skinmalignant_melanomaSubstitution - Missense

c.1080C>T; p.A360A; 14:60291415-60291415

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.31G>A; p.E11K; 14:60282734-60282734

 skinmalignant_melanomaSubstitution - Missense

c.937G>A; p.E313K; 14:60285726-60285726

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.181delG; p.H62fs*15; 14:60282884-60282884

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.691G>A; p.D231N; 14:60283394-60283394

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.26A>C; p.K9T; 14:60282729-60282729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.874C>T; p.P292S; 14:60285663-60285663

 skinmalignant_melanomaSubstitution - Missense

c.388G>A; p.V130I; 14:60283091-60283091

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1143G>T; p.M381I; 14:60292476-60292476

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1003C>T; p.R335C; 14:60289856-60289856

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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