| Gene ID | 29968 |
| Symbol | PSAT1 |
| Synonymous | EPIP|NLS2|PSA|PSAT|PSATD |
| Full name | phosphoserine aminotransferase 1 |
| Gene description | endometrial progesterone-induced protein|phosphohydroxythreonine aminotransferase|phosphoserine aminotransferase |
| Cytoband | 9q21.2 |
| Gene type | protein-coding |
| Synonymous | MIM:610936; HGNC:HGNC:19129; Ensembl:ENSG00000135069; HPRD:17918; Vega:OTTHUMG00000020066 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.7_8insC; p.R5fs*34; 9:78297217-78297218 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.253G>C; p.A85P; 9:78304796-78304796 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.253G>C; p.A85P; 9:78304796-78304796 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.239G>A; p.C80Y; 9:78304782-78304782 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.665G>A; p.R222Q; 9:78308508-78308508 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.646C>T; p.L216L; 9:78308489-78308489 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.239G>A; p.C80Y; 9:78304782-78304782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.381A>G; p.K127K; 9:78304924-78304924 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.369C>T; p.I123I; 9:78304912-78304912 |
skin | malignant_melanoma | Substitution - coding silent |
c.369C>T; p.I123I; 9:78304912-78304912 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.543C>T; p.F181F; 9:78306459-78306459 |
skin | malignant_melanoma | Substitution - coding silent |
c.321G>T; p.W107C; 9:78304864-78304864 |
breast | carcinoma | Substitution - Missense |
c.519G>A; p.L173L; 9:78306435-78306435 |
skin | malignant_melanoma | Substitution - coding silent |
c.254C>T; p.A85V; 9:78304797-78304797 |
skin | malignant_melanoma | Substitution - Missense |
c.279G>T; p.L93F; 9:78304822-78304822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.934G>A; p.G312R; 9:78328115-78328115 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.217_218insT; p.L75fs*26; 9:78304760-78304761 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.455G>A; p.C152Y; 9:78306371-78306371 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.74T>C; p.I25T; 9:78300615-78300615 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.257T>A; p.V86D; 9:78304800-78304800 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.487G>A; p.D163N; 9:78306403-78306403 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.183G>A; p.R61R; 9:78302015-78302015 |
skin | malignant_melanoma | Substitution - coding silent |
c.241G>A; p.G81S; 9:78304784-78304784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.401T>C; p.I134T; 9:78306317-78306317 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.328A>C; p.K110Q; 9:78304871-78304871 |
thyroid | carcinoma | Substitution - Missense |
c.181C>T; p.R61W; 9:78302013-78302013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.511G>A; p.A171T; 9:78306427-78306427 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.346A>G; p.K116E; 9:78304889-78304889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.S108L; 9:78304866-78304866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.607G>A; p.G203S; 9:78308450-78308450 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.973C>T; p.L325F; 9:78328154-78328154 |
skin | malignant_melanoma | Substitution - Missense |
c.171G>T; p.E57D; 9:78302003-78302003 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.171G>T; p.E57D; 9:78302003-78302003 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.373C>T; p.H125Y; 9:78304916-78304916 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.397+2T>C; p.?; 9:78304942-78304942 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.508G>T; p.G170*; 9:78306424-78306424 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.848A>T; p.D283V; 9:78317783-78317783 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.910C>T; p.P304S; 9:78328091-78328091 |
skin | malignant_melanoma | Substitution - Missense |
c.741C>T; p.S247S; 9:78317676-78317676 |
liver | carcinoma | Substitution - coding silent |
c.917G>A; p.R306H; 9:78328098-78328098 |
breast | carcinoma | Substitution - Missense |
c.499G>A; p.D167N; 9:78306415-78306415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.747C>T; p.Y249Y; 9:78317682-78317682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.873T>C; p.C291C; 9:78328054-78328054 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.280A>G; p.K94E; 9:78304823-78304823 |
liver | carcinoma | Substitution - Missense |
c.1059C>T; p.D353D; 9:78329032-78329032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.286G>A; p.G96R; 9:78304829-78304829 |
skin | malignant_melanoma | Substitution - Missense |
c.682C>T; p.L228L; 9:78308525-78308525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1015G>T; p.G339*; 9:78328988-78328988 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.297T>G; p.A99A; 9:78304840-78304840 |
thyroid | other; neoplasm | Substitution - coding silent |
c.578T>C; p.V193A; 9:78308421-78308421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.877G>A; p.V293M; 9:78328058-78328058 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.950_951insA; p.R319fs*4; 9:78328131-78328132 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.661C>T; p.L221F; 9:78308504-78308504 |
skin | malignant_melanoma | Substitution - Missense |
c.178G>T; p.V60L; 9:78302010-78302010 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.128G>A; p.S43N; 9:78301960-78301960 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.850A>T; p.N284Y; 9:78317785-78317785 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.307G>A; p.V103M; 9:78304850-78304850 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.961C>A; p.L321I; 9:78328142-78328142 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.636C>T; p.V212V; 9:78308479-78308479 |
skin | malignant_melanoma | Substitution - coding silent |
c.988T>C; p.L330L; 9:78328169-78328169 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.999_1005delAGGGCAT; p.H335fs*25; 9:78328180-78328186 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.59C>G; p.S20*; 9:78297269-78297269 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1089A>T; p.K363N; 9:78329062-78329062 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |