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

Basic Information

Gene ID

5300

Name

PIN1

Synonymous

peptidylprolyl cis/trans isomerase, NIMA-interacting 1;PIN1;peptidylprolyl cis/trans isomerase, NIMA-interacting 1

Definition

PPIase Pin1|peptidyl-prolyl cis-trans isomerase NIMA-interacting 1|protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1|rotamase Pin1

Position

19p13

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

There is no record for PIN1

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.323C>A; p.S108*; 19:9848081-9848081

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.445C>T; p.P149S; 19:9849152-9849152

skin; abdomenmalignant_melanomaSubstitution - Missense

c.97C>A; p.Q33K; 19:9838474-9838474

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense


')