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

Basic Information

Gene ID

151742

Name

PPM1L

Synonymous

protein phosphatase, Mg2+/Mn2+ dependent, 1L;PPM1L;protein phosphatase, Mg2+/Mn2+ dependent, 1L

Definition

PP2C epsilon|Protein phosphatase 2C epsilon isoform|protein phosphatase 1L|protein phosphatase 2C isoform epsilon

Position

3q26.1

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

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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 0.22.

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.261C>T; p.S87S; 3:161068872-161068872

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.143T>G; p.L48W; 3:161065508-161065508

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.19G>A; p.V7I; 3:160961892-160961892

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.75C>G; p.D25E; 3:161065440-161065440

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.23C>T; p.S8F; 3:160961896-160961896

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.139C>T; p.P47S; 3:161065504-161065504

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.406C>T; p.R136*; 3:161069017-161069017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:161069017-161069017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:161069017-161069017

 central_nervous_system; braingliomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:161069017-161069017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.183G>A; p.K61K; 3:161065548-161065548

 skinmalignant_melanomaSubstitution - coding silent

c.406C>T; p.R136*; 3:161069017-161069017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:161069017-161069017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.396A>C; p.E132D; 3:161069007-161069007

 skinmalignant_melanomaSubstitution - Missense

c.508G>T; p.V170L; 3:161069119-161069119

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.291C>T; p.N97N; 3:161068902-161068902

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.254C>A; p.S85Y; 3:161068865-161068865

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.238G>A; p.G80R; 3:161068849-161068849

 skinmalignant_melanomaSubstitution - Missense

c.140C>T; p.P47L; 3:161065505-161065505

 skinmalignant_melanomaSubstitution - Missense

c.257G>A; p.R86Q; 3:161068868-161068868

 skinmalignant_melanomaSubstitution - Missense

c.290A>G; p.N97S; 3:161068901-161068901

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.152A>C; p.D51A; 3:161065517-161065517

 breastcarcinomaSubstitution - Missense

c.56C>A; p.A19D; 3:161065421-161065421

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.419A>C; p.E140A; 3:161069030-161069030

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.243C>T; p.I81I; 3:161068854-161068854

 skinmalignant_melanomaSubstitution - coding silent

c.364T>G; p.S122A; 3:161068975-161068975

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.443G>T; p.G148V; 3:161069054-161069054

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315C>T; p.I105I; 3:161068926-161068926

 skinmalignant_melanomaSubstitution - coding silent

c.132C>T; p.N44N; 3:161065497-161065497

 breastcarcinomaSubstitution - coding silent

c.179G>A; p.R60K; 3:161065544-161065544

 skinmalignant_melanomaSubstitution - Missense

c.132C>T; p.N44N; 3:161065497-161065497

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.132C>T; p.N44N; 3:161065497-161065497

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.179G>C; p.R60T; 3:161065544-161065544

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.388_389AG>CT; p.S130>?; 3:161068999-161069000

 lungcarcinoma; adenocarcinomaComplex

c.487G>A; p.D163N; 3:161069098-161069098

 breastcarcinomaSubstitution - Missense

c.436C>T; p.H146Y; 3:161069047-161069047

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.471T>C; p.F157F; 3:161069082-161069082

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.N30N; 3:161065455-161065455

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.236A>T; p.Q79L; 3:161068847-161068847

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.105C>T; p.R35R; 3:161065470-161065470

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.105C>T; p.R35R; 3:161065470-161065470

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.123A>T; p.K41N; 3:161065488-161065488

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.369T>C; p.D123D; 3:161068980-161068980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.107G>T; p.G36V; 3:161065472-161065472

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.279G>A; p.L93L; 3:161068890-161068890

 skinmalignant_melanomaSubstitution - coding silent

c.133G>A; p.A45T; 3:161065498-161065498

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.55G>T; p.A19S; 3:161065420-161065420

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.422G>A; p.R141H; 3:161069033-161069033

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.415A>T; p.K139*; 3:161069026-161069026

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.418G>A; p.E140K; 3:161069029-161069029

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.210C>A; p.I70I; 3:161068821-161068821

 oesophaguscarcinomaSubstitution - coding silent

c.351C>A; p.F117L; 3:161068962-161068962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.17C>A; p.T6N; 3:160961890-160961890

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.239G>A; p.G80E; 3:161068850-161068850

 breastcarcinomaSubstitution - Missense

c.44C>A; p.T15K; 3:161065409-161065409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.73G>T; p.D25Y; 3:161065438-161065438

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.73G>T; p.D25Y; 3:161065438-161065438

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.101C>T; p.S34L; 3:161065466-161065466

 livercarcinomaSubstitution - Missense

c.101C>T; p.S34L; 3:161065466-161065466

 livercarcinomaSubstitution - Missense

c.480C>T; p.G160G; 3:161069091-161069091

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

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