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

Basic Information

Gene ID

84152

Name

PPP1R1B

Synonymous

protein phosphatase 1, regulatory (inhibitor) subunit 1B;PPP1R1B;protein phosphatase 1, regulatory (inhibitor) subunit 1B

Definition

dopamine and cAMP-regulated neuronal phosphoprotein 32|protein phosphatase 1 regulatory subunit 1B

Position

17q12

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

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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 0.25.

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.192C>T; p.L64L; 17:39629998-39629998

 skinmalignant_melanomaSubstitution - coding silent

c.197C>T; p.S66L; 17:39630003-39630003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563G>T; p.S188I; 17:39635724-39635724

 kidneyother; neoplasmSubstitution - Missense

c.587G>A; p.R196H; 17:39635837-39635837

 thyroidother; neoplasmSubstitution - Missense

c.251G>A; p.R84H; 17:39633892-39633892

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.47C>T; p.P16L; 17:39627439-39627439

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.236T>C; p.L79P; 17:39630042-39630042

 pancreascarcinomaSubstitution - Missense

c.496C>T; p.P166S; 17:39635657-39635657

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.67C>T; p.R23C; 17:39627459-39627459

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.97C>G; p.P33A; 17:39629185-39629185

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.33C>A; p.F11L; 17:39627425-39627425

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.152delC; p.S52fs*28; 17:39629549-39629549

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.493C>T; p.R165C; 17:39635654-39635654

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.493C>T; p.R165C; 17:39635654-39635654

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.573G>A; p.G191G; 17:39635823-39635823

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.388G>T; p.E130*; 17:39634029-39634029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.18C>A; p.R6R; 17:39627410-39627410

 livercarcinomaSubstitution - coding silent

c.18C>A; p.R6R; 17:39627410-39627410

 livercarcinomaSubstitution - coding silent

c.198G>A; p.S66S; 17:39630004-39630004

 skinmalignant_melanomaSubstitution - coding silent

c.388G>C; p.E130Q; 17:39634029-39634029

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.491A>T; p.E164V; 17:39635652-39635652

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.185_186insCCTT; p.H63fs*26; 17:39629991-39629992

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.175_176GG>AA; p.G59K; 17:39629981-39629982

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.246G>A; p.V82V; 17:39633887-39633887

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.43G>C; p.A15P; 17:39627435-39627435

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.127G>A; p.E43K; 17:39629215-39629215

 skinmalignant_melanomaSubstitution - Missense

c.565+1G>A; p.?; 17:39635727-39635727

 skinmalignant_melanomaUnknown

c.507G>A; p.L169L; 17:39635668-39635668

 skinmalignant_melanomaSubstitution - coding silent

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