| Gene ID | 6303 |
| Symbol | SAT1 |
| Synonymous | DC21|KFSD|KFSDX|SAT|SSAT|SSAT-1 |
| Full name | spermidine/spermine N1-acetyltransferase 1 |
| Gene description | diamine N-acetyltransferase 1|diamine acetyltransferase 1|polyamine N-acetyltransferase 1|putrescine acetyltransferase|spermidine/spermine N1-acetyltransferase alpha |
| Cytoband | Xp22.1 |
| Gene type | protein-coding |
| Synonymous | MIM:313020; HGNC:HGNC:10540; Ensembl:ENSG00000130066; HPRD:02431; Vega:OTTHUMG00000021256 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.12C>T; p.F4F; 23:23783363-23783363 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.180G>A; p.P60P; 23:23783861-23783861 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.282C>T; p.F94F; 23:23785407-23785407 |
pancreas | carcinoma | Substitution - coding silent |
c.197C>T; p.P66L; 23:23783878-23783878 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.113delA; p.D40fs*3; 23:23783704-23783704 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.113delA; p.D40fs*3; 23:23783704-23783704 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.248C>T; p.P83L; 23:23785373-23785373 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.134G>A; p.G45D; 23:23783815-23783815 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.357G>A; p.R119R; 23:23785697-23785697 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.362G>A; p.R121H; 23:23785702-23785702 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>A; p.V96M; 23:23785411-23785411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>A; p.V96M; 23:23785411-23785411 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.157C>T; p.H53Y; 23:23783838-23783838 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.274G>A; p.E92K; 23:23785399-23785399 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55C>T; p.R19W; 23:23783406-23783406 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.167T>C; p.V56A; 23:23783848-23783848 |
breast | carcinoma | Substitution - Missense |
c.306C>T; p.G102G; 23:23785521-23785521 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.206A>G; p.H69R; 23:23785331-23785331 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.179C>T; p.P60L; 23:23783860-23783860 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.302G>C; p.R101T; 23:23785427-23785427 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.434C>T; p.A145V; 23:23785774-23785774 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.442C>A; p.L148M; 23:23785782-23785782 |
breast | carcinoma | Substitution - Missense |
c.229T>C; p.Y77H; 23:23785354-23785354 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.356G>A; p.R119K; 23:23785696-23785696 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.144G>T; p.E48D; 23:23783825-23783825 |
liver | carcinoma | Substitution - Missense |