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

Basic Information

Gene ID

10424

Name

PGRMC2

Synonymous

progesterone receptor membrane component 2;PGRMC2;progesterone receptor membrane component 2

Definition

membrane-associated progesterone receptor component 2|progesterone membrane binding protein|steroid receptor protein DG6

Position

4q26

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 0.00.

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.497G>C; p.R166T; 4:128272439-128272439

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.591A>G; p.V197V; 4:128271397-128271397

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.419-2A>G; p.?; 4:128272519-128272519

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.453C>T; p.A151A; 4:128272483-128272483

 skinmalignant_melanomaSubstitution - coding silent

c.551G>A; p.R184Q; 4:128272385-128272385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.338G>A; p.G113D; 4:128287453-128287453

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.22G>T; p.V8L; 4:128287769-128287769

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.500A>G; p.D167G; 4:128272436-128272436

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.419C>T; p.A140V; 4:128272517-128272517

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.525G>A; p.L175L; 4:128272411-128272411

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.671G>C; p.*224S; 4:128271317-128271317

 urinary_tract; bladdercarcinomaNonstop extension

c.317A>C; p.E106A; 4:128287474-128287474

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.525G>C; p.L175F; 4:128272411-128272411

 urinary_tract; bladdercarcinomaSubstitution - Missense

')