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

Basic Information

Gene ID

55615

Name

PRR5

Synonymous

proline rich 5 (renal);PRR5;proline rich 5 (renal)

Definition

Rho GTPase activating protein 8|proline-rich protein 5|protein observed with Rictor-1

Position

22q13

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 0.04.

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.572G>A; p.R191K; 22:44735043-44735043

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.458G>A; p.R153Q; 22:44732294-44732294

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.183C>A; p.D61E; 22:44714639-44714639

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.617A>G; p.K206R; 22:44735088-44735088

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1155G>T; p.Q385H; 22:44737235-44737235

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.939C>G; p.P313P; 22:44737019-44737019

 pancreascarcinomaSubstitution - coding silent

c.267C>T; p.N89N; 22:44726579-44726579

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.520delC; p.P175fs*19; 22:44732356-44732356

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.751C>G; p.R251G; 22:44736831-44736831

 livercarcinomaSubstitution - Missense

c.751C>G; p.R251G; 22:44736831-44736831

 livercarcinomaSubstitution - Missense

c.687C>T; p.I229I; 22:44735158-44735158

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.504G>C; p.R168R; 22:44732340-44732340

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.315C>A; p.F105L; 22:44726627-44726627

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.577G>A; p.V193M; 22:44735048-44735048

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.436C>A; p.Q146K; 22:44732272-44732272

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.771G>A; p.T257T; 22:44736851-44736851

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.460A>G; p.N154D; 22:44732296-44732296

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.536A>G; p.Q179R; 22:44732372-44732372

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.994G>T; p.G332C; 22:44737074-44737074

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.558G>A; p.G186G; 22:44735029-44735029

 skinmalignant_melanomaSubstitution - coding silent

c.145G>A; p.G49R; 22:44714601-44714601

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.825T>C; p.G275G; 22:44736905-44736905

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.894G>A; p.P298P; 22:44736974-44736974

 ovaryother; neoplasmSubstitution - coding silent

c.894G>A; p.P298P; 22:44736974-44736974

 ovaryother; neoplasmSubstitution - coding silent

c.894G>A; p.P298P; 22:44736974-44736974

 ovaryother; neoplasmSubstitution - coding silent

c.809G>A; p.G270D; 22:44736889-44736889

 livercarcinomaSubstitution - Missense

c.516T>C; p.R172R; 22:44732352-44732352

 thyroidother; neoplasmSubstitution - coding silent

c.444C>T; p.A148A; 22:44732280-44732280

 skinmalignant_melanomaSubstitution - coding silent

c.512C>T; p.A171V; 22:44732348-44732348

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.512C>T; p.A171V; 22:44732348-44732348

 skinmalignant_melanomaSubstitution - Missense

c.727G>A; p.V243M; 22:44736807-44736807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.727G>A; p.V243M; 22:44736807-44736807

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.351G>T; p.E117D; 22:44731758-44731758

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.596G>A; p.R199H; 22:44735067-44735067

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1146G>A; p.G382G; 22:44737226-44737226

 livercarcinomaSubstitution - coding silent

c.1146G>A; p.G382G; 22:44737226-44737226

 livercarcinomaSubstitution - coding silent

c.315C>T; p.F105F; 22:44726627-44726627

 skinmalignant_melanomaSubstitution - coding silent

c.744T>C; p.P248P; 22:44736824-44736824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.744T>C; p.P248P; 22:44736824-44736824

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.627G>A; p.S209S; 22:44735098-44735098

 pancreascarcinomaSubstitution - coding silent

c.184C>T; p.Q62*; 22:44714640-44714640

 skinmalignant_melanomaSubstitution - Nonsense

c.804G>A; p.A268A; 22:44736884-44736884

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.973A>G; p.T325A; 22:44737053-44737053

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1112G>T; p.R371L; 22:44737192-44737192

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.495G>A; p.A165A; 22:44732331-44732331

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.388C>T; p.L130L; 22:44731795-44731795

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.706C>T; p.R236C; 22:44736786-44736786

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:44732350-44732350

 livercarcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:44732350-44732350

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:44732350-44732350

 livercarcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:44732350-44732350

 livercarcinomaSubstitution - Missense

c.1153C>T; p.Q385*; 22:44737233-44737233

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.812C>T; p.A271V; 22:44736892-44736892

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1092C>T; p.F364F; 22:44737172-44737172

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.480G>C; p.V160V; 22:44732316-44732316

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.821G>A; p.G274D; 22:44736901-44736901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1106G>A; p.R369Q; 22:44737186-44737186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.706_707CG>TT; p.R236F; 22:44736786-44736787

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.375C>T; p.D125D; 22:44731782-44731782

 stomachadenocarcinomaSubstitution - coding silent

c.294C>T; p.I98I; 22:44726606-44726606

 skin; armmalignant_melanomaSubstitution - coding silent

c.531C>T; p.I177I; 22:44732367-44732367

 skinmalignant_melanomaSubstitution - coding silent

c.513C>T; p.A171A; 22:44732349-44732349

 NSmalignant_melanomaSubstitution - coding silent

c.513C>T; p.A171A; 22:44732349-44732349

 NSmalignant_melanomaSubstitution - coding silent

c.906C>G; p.G302G; 22:44736986-44736986

 livercarcinomaSubstitution - coding silent

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