| Gene ID | 427 |
| Symbol | ASAH1 |
| Synonymous | AC|ACDase|ASAH|PHP|PHP32|SMAPME |
| Full name | N-acylsphingosine amidohydrolase (acid ceramidase) 1 |
| Gene description | acid CDase|acid ceramidase|acylsphingosine deacylase|putative 32 kDa heart protein |
| Cytoband | 8p22 |
| Gene type | protein-coding |
| Synonymous | MIM:613468; HGNC:HGNC:735; Ensembl:ENSG00000104763; HPRD:01969; Vega:OTTHUMG00000096997 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.348G>T; p.M116I; 8:18067254-18067254 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.967C>A; p.R323S; 8:18059415-18059415 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.117A>G; p.S39S; 8:18075549-18075549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1143C>T; p.F381F; 8:18057579-18057579 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.236C>A; p.S79Y; 8:18069859-18069859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.236C>A; p.S79Y; 8:18069859-18069859 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.721C>G; p.L241V; 8:18061441-18061441 |
breast | carcinoma | Substitution - Missense |
c.475A>G; p.R159G; 8:18063213-18063213 |
skin | malignant_melanoma | Substitution - Missense |
c.261C>T; p.F87F; 8:18069834-18069834 |
skin | malignant_melanoma | Substitution - coding silent |
c.458-1G>A; p.?; 8:18063231-18063231 |
liver | carcinoma | Unknown |
c.458-1G>A; p.?; 8:18063231-18063231 |
liver | carcinoma | Unknown |
c.261C>T; p.F87F; 8:18069834-18069834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.458-1G>A; p.?; 8:18063231-18063231 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.409delT; p.Y137fs*10; 8:18064505-18064505 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.277A>G; p.I93V; 8:18069818-18069818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.847C>T; p.L283L; 8:18059642-18059642 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1157G>T; p.R386L; 8:18057565-18057565 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>A; p.L167I; 8:18063189-18063189 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.484G>A; p.D162N; 8:18063204-18063204 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1151A>G; p.Y384C; 8:18057571-18057571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.922G>A; p.D308N; 8:18059460-18059460 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.576A>G; p.Q192Q; 8:18062351-18062351 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.43G>T; p.A15S; 8:18084016-18084016 |
breast | carcinoma | Substitution - Missense |
c.214G>A; p.V72M; 8:18071302-18071302 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.79-3C>T; p.?; 8:18075590-18075590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1159G>T; p.D387Y; 8:18057563-18057563 |
liver | carcinoma | Substitution - Missense |
c.1159G>T; p.D387Y; 8:18057563-18057563 |
liver | carcinoma | Substitution - Missense |
c.387G>T; p.E129D; 8:18064527-18064527 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.41C>A; p.A14D; 8:18084018-18084018 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460C>T; p.H154Y; 8:18063228-18063228 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.431C>T; p.T144I; 8:18064483-18064483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.122C>T; p.P41L; 8:18075544-18075544 |
kidney | other; neoplasm | Substitution - Missense |
c.190G>A; p.E64K; 8:18071326-18071326 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.376C>A; p.P126T; 8:18067226-18067226 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.776A>G; p.N259S; 8:18061386-18061386 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.394T>G; p.S132A; 8:18064520-18064520 |
liver | carcinoma | Substitution - Missense |
c.394T>G; p.S132A; 8:18064520-18064520 |
liver | carcinoma | Substitution - Missense |
c.316G>T; p.G106C; 8:18067286-18067286 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.301T>A; p.L101M; 8:18069794-18069794 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.388A>G; p.I130V; 8:18064526-18064526 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.126-2A>G; p.?; 8:18071392-18071392 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Unknown |
c.254delA; p.N85fs*32; 8:18069841-18069841 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.866G>T; p.G289V; 8:18059623-18059623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.503+2T>A; p.?; 8:18063183-18063183 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1049C>T; p.S350L; 8:18058884-18058884 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1004C>T; p.T335M; 8:18059378-18059378 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1004C>T; p.T335M; 8:18059378-18059378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.27A>G; p.L9L; 8:18084032-18084032 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.540G>C; p.E180D; 8:18062387-18062387 |
ovary | other; neoplasm | Substitution - Missense |
c.544C>G; p.L182V; 8:18062383-18062383 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.671A>G; p.N224S; 8:18061718-18061718 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1113A>G; p.T371T; 8:18057609-18057609 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.897G>T; p.K299N; 8:18059592-18059592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.85G>C; p.E29Q; 8:18075581-18075581 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.85G>C; p.E29Q; 8:18075581-18075581 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.269G>A; p.S90N; 8:18069826-18069826 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1169A>G; p.D390G; 8:18057553-18057553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |