| Gene ID | 9232 |
| Symbol | PTTG1 |
| Synonymous | EAP1|HPTTG|PTTG|TUTR1 |
| Full name | pituitary tumor-transforming 1 |
| Gene description | ESP1-associated protein 1|pituitary tumor-transforming gene 1 protein|securin|tumor-transforming protein 1 |
| Cytoband | 5q35.1 |
| Gene type | protein-coding |
| Synonymous | MIM:604147; HGNC:HGNC:9690; Ensembl:ENSG00000164611; HPRD:04998; Vega:OTTHUMG00000130328 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.561G>A; p.S187S; 5:160428633-160428633 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.516A>C; p.P172P; 5:160427860-160427860 |
breast | carcinoma | Substitution - coding silent |
c.283G>T; p.E95*; 5:160424243-160424243 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.481C>A; p.L161M; 5:160427825-160427825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.508C>T; p.P170S; 5:160427852-160427852 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.277-9C>G; p.?; 5:160424228-160424228 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Unknown |
c.498T>C; p.P166P; 5:160427842-160427842 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.582A>G; p.P194P; 5:160428654-160428654 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.371-7G>T; p.?; 5:160427708-160427708 |
liver | carcinoma | Unknown |
c.371-7G>T; p.?; 5:160427708-160427708 |
liver | carcinoma | Unknown |
c.385G>A; p.D129N; 5:160427729-160427729 |
breast | carcinoma | Substitution - Missense |
c.385G>A; p.D129N; 5:160427729-160427729 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.560C>T; p.S187L; 5:160428632-160428632 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.179C>A; p.T60N; 5:160422796-160422796 |
breast | carcinoma | Substitution - Missense |
c.436C>T; p.L146F; 5:160427780-160427780 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.436C>T; p.L146F; 5:160427780-160427780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.351C>A; p.F117L; 5:160424311-160424311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.330C>T; p.A110A; 5:160424290-160424290 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.70C>T; p.L24L; 5:160422382-160422382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.410C>G; p.A137G; 5:160427754-160427754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.380G>T; p.S127I; 5:160427724-160427724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.329C>T; p.A110V; 5:160424289-160424289 |
skin | malignant_melanoma | Substitution - Missense |
c.78delG; p.S28fs*8; 5:160422390-160422390 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.410C>A; p.A137E; 5:160427754-160427754 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.506T>C; p.M169T; 5:160427850-160427850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.177T>G; p.A59A; 5:160422794-160422794 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.486delC; p.P164fs*4; 5:160427830-160427830 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.471G>C; p.K157N; 5:160427815-160427815 |
liver | carcinoma | Substitution - Missense |
c.471G>C; p.K157N; 5:160427815-160427815 |
liver | carcinoma | Substitution - Missense |