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

Basic Information

Gene ID

5074

Name

PAWR

Synonymous

PRKC, apoptosis, WT1, regulator;PAWR;PRKC, apoptosis, WT1, regulator

Definition

PRKC apoptosis WT1 regulator protein|WT1-interacting protein|prostate apoptosis response 4 protein|prostate apoptosis response protein 4|prostate apoptosis response protein PAR-4|prostate apoptosis response-4|transcriptional repressor PAR4

Position

12q21

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 0.27.

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.419C>T; p.S140L; 12:79689826-79689826

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.139A>G; p.S47G; 12:79690106-79690106

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.489C>T; p.T163T; 12:79689756-79689756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.71A>G; p.K24R; 12:79690174-79690174

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.863G>A; p.R288K; 12:79594402-79594402

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.E305K; 12:79594352-79594352

 skin; trunkmalignant_melanomaSubstitution - Missense

c.439G>A; p.G147S; 12:79689806-79689806

 ovaryother; neoplasmSubstitution - Missense

c.597T>G; p.I199M; 12:79621127-79621127

 thyroidother; neoplasmSubstitution - Missense

c.809delA; p.K270fs*10; 12:79596533-79596533

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.937-2A>G; p.?; 12:79592695-79592695

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.798C>T; p.S266S; 12:79596544-79596544

 breastcarcinomaSubstitution - coding silent

c.728G>A; p.R243Q; 12:79596614-79596614

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.728G>A; p.R243Q; 12:79596614-79596614

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.728G>A; p.R243Q; 12:79596614-79596614

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.728G>A; p.R243Q; 12:79596614-79596614

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.635C>T; p.S212F; 12:79621089-79621089

 NSmalignant_melanomaSubstitution - Missense

c.472G>A; p.E158K; 12:79689773-79689773

 skinmalignant_melanomaSubstitution - Missense

c.860T>C; p.L287P; 12:79594405-79594405

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.940C>T; p.L314L; 12:79592690-79592690

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.410G>C; p.G137A; 12:79689835-79689835

 breastcarcinomaSubstitution - Missense

c.916G>T; p.E306*; 12:79594349-79594349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.559C>T; p.R187W; 12:79621165-79621165

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.517-1G>A; p.?; 12:79621208-79621208

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.909C>G; p.L303L; 12:79594356-79594356

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.561G>A; p.R187R; 12:79621163-79621163

 skinmalignant_melanomaSubstitution - coding silent

c.425C>A; p.P142H; 12:79689820-79689820

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.33C>T; p.G11G; 12:79690212-79690212

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.597T>A; p.I199I; 12:79621127-79621127

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.597T>A; p.I199I; 12:79621127-79621127

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.550C>T; p.Q184*; 12:79621174-79621174

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.550C>T; p.Q184*; 12:79621174-79621174

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.460A>T; p.R154W; 12:79689785-79689785

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.994T>C; p.L332L; 12:79592636-79592636

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.711C>T; p.V237V; 12:79596631-79596631

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.526G>A; p.E176K; 12:79621198-79621198

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.526G>A; p.E176K; 12:79621198-79621198

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.403G>C; p.E135Q; 12:79689842-79689842

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.722A>G; p.Y241C; 12:79596620-79596620

 thyroidcarcinomaSubstitution - Missense

')