| Gene ID | 5478 |
| Symbol | PPIA |
| Synonymous | CYPA|CYPH|HEL-S-69p |
| Full name | peptidylprolyl isomerase A (cyclophilin A) |
| Gene description | PPIase A|T cell cyclophilin|cyclosporin A-binding protein|epididymis secretory sperm binding protein Li 69p|peptidyl-prolyl cis-trans isomerase A|rotamase A |
| Cytoband | 7p13 |
| Gene type | protein-coding |
| Synonymous | MIM:123840; HGNC:HGNC:9253; Ensembl:ENSG00000196262; HPRD:00457; HPRD:17376; Vega:OTTHUMG00000023687 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.332A>G; p.Q111R; 7:44799844-44799844 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>T; p.R37C; 7:44799400-44799400 |
skin | malignant_melanoma | Substitution - Missense |
c.286G>T; p.G96C; 7:44799798-44799798 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.24C>T; p.F8F; 7:44796748-44796748 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.339C>T; p.F113F; 7:44799851-44799851 |
skin | malignant_melanoma | Substitution - coding silent |
c.440C>T; p.S147F; 7:44801364-44801364 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.70-23_70-7del17; p.?; 7:44799224-44799240 |
breast | carcinoma | Unknown |
c.62C>T; p.S21F; 7:44796786-44796786 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.253G>A; p.D85N; 7:44799765-44799765 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.234C>G; p.I78M; 7:44799746-44799746 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.234C>G; p.I78M; 7:44799746-44799746 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.93G>A; p.K31K; 7:44799270-44799270 |
pancreas | carcinoma | Substitution - coding silent |
c.93G>A; p.K31K; 7:44799270-44799270 |
pancreas | carcinoma | Substitution - coding silent |
c.93G>A; p.K31K; 7:44799270-44799270 |
pancreas | carcinoma | Substitution - coding silent |
c.93G>A; p.K31K; 7:44799270-44799270 |
pancreas | carcinoma | Substitution - coding silent |
c.160C>G; p.H54D; 7:44799451-44799451 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.430C>T; p.R144C; 7:44801354-44801354 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.200T>C; p.F67S; 7:44799712-44799712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |