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

Basic Information

Gene ID

8682

Name

PEA15

Synonymous

phosphoprotein enriched in astrocytes 15;PEA15;phosphoprotein enriched in astrocytes 15

Definition

15 kDa phosphoprotein enriched in astrocytes|astrocytic phosphoprotein PEA-15|homolog of mouse MAT-1 oncogene|mammary transforming gene 1, mouse, homolog of|phosphoprotein enriched in diabetes

Position

1q21.1

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 0.00.

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.52G>T; p.E18*; 1:160211596-160211596

 central_nervous_system; braingliomaSubstitution - Nonsense

c.337C>T; p.R113W; 1:160213430-160213430

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.318G>T; p.K106N; 1:160213255-160213255

 pancreascarcinomaSubstitution - Missense

c.69C>A; p.L23L; 1:160211613-160211613

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.321G>A; p.K107K; 1:160213258-160213258

 breastcarcinomaSubstitution - coding silent

c.215G>A; p.R72H; 1:160213152-160213152

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.13G>A; p.G5R; 1:160211557-160211557

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.81C>T; p.C27C; 1:160211625-160211625

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.302G>A; p.R101H; 1:160213239-160213239

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.232A>G; p.M78V; 1:160213169-160213169

 livercarcinomaSubstitution - Missense

c.253C>G; p.R85G; 1:160213190-160213190

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.45C>T; p.I15I; 1:160211589-160211589

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

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