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

Basic Information

Gene ID

5245

Name

PHB

Synonymous

prohibitin;PHB;prohibitin

Definition

epididymis luminal protein 215|epididymis secretory sperm binding protein Li 54e

Position

17q21

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 0.14.

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.302G>C; p.S101T; 17:49409422-49409422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.347A>C; p.E116A; 17:49409377-49409377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.453C>T; p.S151S; 17:49409099-49409099

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.606+2T>G; p.?; 17:49406757-49406757

 breastcarcinomaUnknown

c.606+2T>G; p.?; 17:49406757-49406757

 breastcarcinomaUnknown

c.689C>G; p.T230S; 17:49405122-49405122

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.311C>T; p.P104L; 17:49409413-49409413

 central_nervous_system; braingliomaSubstitution - Missense

c.511-1G>C; p.?; 17:49406855-49406855

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.343G>A; p.D115N; 17:49409381-49409381

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.273A>G; p.T91T; 17:49409451-49409451

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.502G>A; p.V168M; 17:49409050-49409050

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.314G>A; p.R105H; 17:49409410-49409410

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.134T>G; p.V45G; 17:49411794-49411794

 skinmalignant_melanomaSubstitution - Missense

c.667C>A; p.L223M; 17:49405144-49405144

 pancreascarcinomaSubstitution - Missense

c.134T>G; p.V45G; 17:49411794-49411794

 skinmalignant_melanomaSubstitution - Missense

c.626C>T; p.A209V; 17:49405185-49405185

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.626C>T; p.A209V; 17:49405185-49405185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.527G>C; p.G176A; 17:49406838-49406838

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.228G>T; p.V76V; 17:49411700-49411700

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.186G>A; p.Q62Q; 17:49411742-49411742

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.456C>G; p.D152E; 17:49409096-49409096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.397C>T; p.R133C; 17:49409155-49409155

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.561G>T; p.Q187H; 17:49406804-49406804

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.298G>A; p.A100T; 17:49409426-49409426

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.601delG; p.E201fs*23; 17:49406764-49406764

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.654C>T; p.S218S; 17:49405157-49405157

 skinmalignant_melanomaSubstitution - coding silent

c.716G>A; p.R239H; 17:49405095-49405095

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.15_16insT; p.E7fs*1; 17:49413249-49413250

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.670A>C; p.I224L; 17:49405141-49405141

 skinmalignant_melanomaSubstitution - Missense

c.554C>T; p.A185V; 17:49406811-49406811

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.723G>A; p.L241L; 17:49405088-49405088

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.758G>A; p.R253H; 17:49405053-49405053

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.330C>T; p.I110I; 17:49409394-49409394

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.625G>T; p.A209S; 17:49405186-49405186

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.121C>T; p.R41*; 17:49411807-49411807

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.277C>T; p.R93C; 17:49409447-49409447

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.277C>T; p.R93C; 17:49409447-49409447

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.349C>T; p.R117C; 17:49409375-49409375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.349C>T; p.R117C; 17:49409375-49409375

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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