| Gene ID | 10005 |
| Symbol | ACOT8 |
| Synonymous | HNAACTE|PTE-1|PTE-2|PTE1|PTE2|hACTE-III|hTE |
| Full name | acyl-CoA thioesterase 8 |
| Gene description | HIV-Nef associated acyl-CoA thioesterase|acyl-coenzyme A thioesterase 8|choloyl-CoA hydrolase|choloyl-coenzyme A thioesterase|long-chain fatty-acyl-CoA hydrolase|palmitoyl-CoA hydrolase|peroxisomal acyl-CoA thioesterase 1|peroxisomal acyl-coenzyme A thioe |
| Cytoband | 20q13.12 |
| Gene type | protein-coding |
| Synonymous | MIM:608123; HGNC:HGNC:15919; Ensembl:ENSG00000101473; HPRD:06998; Vega:OTTHUMG00000033045 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.869G>A; p.R290Q; 20:45841929-45841929 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.463G>C; p.E155Q; 20:45848475-45848475 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.463G>C; p.E155Q; 20:45848475-45848475 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.649G>A; p.E217K; 20:45843719-45843719 |
liver | carcinoma | Substitution - Missense |
c.567A>G; p.P189P; 20:45844342-45844342 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.784C>T; p.H262Y; 20:45843584-45843584 |
skin | malignant_melanoma | Substitution - Missense |
c.57C>T; p.P19P; 20:45857259-45857259 |
skin | malignant_melanoma | Substitution - coding silent |
c.225_226CC>TT; p.V75>?; 20:45855195-45855196 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex |
c.533T>C; p.I178T; 20:45844376-45844376 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.635G>A; p.R212Q; 20:45844274-45844274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2_3insAGATG; p.?; 20:45857313-45857314 |
eye; uveal_tract | malignant_melanoma | Unknown |
c.842-2A>G; p.?; 20:45841958-45841958 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.581C>T; p.P194L; 20:45844328-45844328 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.951C>A; p.S317R; 20:45841847-45841847 |
thyroid | other; neoplasm | Substitution - Missense |
c.273_274insTGATT; p.L92fs*1; 20:45848664-45848665 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.172C>G; p.Q58E; 20:45855249-45855249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.634C>T; p.R212W; 20:45844275-45844275 |
liver | carcinoma | Substitution - Missense |
c.324G>A; p.S108S; 20:45848614-45848614 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.625G>A; p.V209M; 20:45844284-45844284 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.328C>T; p.R110C; 20:45848610-45848610 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.55C>T; p.P19S; 20:45857261-45857261 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.654C>T; p.G218G; 20:45843714-45843714 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.178G>A; p.V60M; 20:45855243-45855243 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.305G>A; p.R102Q; 20:45848633-45848633 |
skin | malignant_melanoma | Substitution - Missense |
c.56C>T; p.P19L; 20:45857260-45857260 |
skin | malignant_melanoma | Substitution - Missense |
c.544G>A; p.E182K; 20:45844365-45844365 |
skin | malignant_melanoma | Substitution - Missense |
c.850C>T; p.R284W; 20:45841948-45841948 |
stomach | adenocarcinoma | Substitution - Missense |
c.160C>T; p.L54L; 20:45855261-45855261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.32A>C; p.Q11P; 20:45857284-45857284 |
breast | carcinoma | Substitution - Missense |
c.153C>A; p.A51A; 20:45855268-45855268 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.377C>T; p.A126V; 20:45848561-45848561 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.672C>T; p.C224C; 20:45843696-45843696 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.170G>A; p.G57D; 20:45855251-45855251 |
pancreas | carcinoma | Substitution - Missense |
c.409C>A; p.Q137K; 20:45848529-45848529 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.329G>A; p.R110H; 20:45848609-45848609 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.329G>A; p.R110H; 20:45848609-45848609 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.628C>T; p.R210*; 20:45844281-45844281 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.818A>G; p.Y273C; 20:45843550-45843550 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.628C>T; p.R210*; 20:45844281-45844281 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.720G>C; p.L240L; 20:45843648-45843648 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.256C>T; p.R86W; 20:45855165-45855165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.256C>T; p.R86W; 20:45855165-45855165 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.155A>G; p.K52R; 20:45855266-45855266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.578C>T; p.S193F; 20:45844331-45844331 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.946G>A; p.E316K; 20:45841852-45841852 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.676G>A; p.V226M; 20:45843692-45843692 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.642T>C; p.Y214Y; 20:45844267-45844267 |
liver | carcinoma | Substitution - coding silent |
c.642T>C; p.Y214Y; 20:45844267-45844267 |
liver | carcinoma | Substitution - coding silent |
c.126C>T; p.F42F; 20:45857190-45857190 |
skin | malignant_melanoma | Substitution - coding silent |
c.648C>T; p.G216G; 20:45843720-45843720 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.129-5T>C; p.?; 20:45855297-45855297 |
stomach | adenocarcinoma | Unknown |
c.190C>G; p.L64V; 20:45855231-45855231 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.236C>T; p.S79F; 20:45855185-45855185 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.89_117del29; p.T30fs*34; 20:45857199-45857227 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |