ACOT8 (acyl-CoA thioesterase 8) - Rat Genome Database

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Gene: ACOT8 (acyl-CoA thioesterase 8) Homo sapiens
Analyze
Symbol: ACOT8
Name: acyl-CoA thioesterase 8
RGD ID: 70372
HGNC Page HGNC
Description: Exhibits medium-chain acyl-CoA hydrolase activity and palmitoyl-CoA hydrolase activity. Involved in several processes, including acyl-CoA metabolic process; negative regulation of CD4 production; and peroxisome fission. Localizes to peroxisomal matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 4,8-dimethylnonanoyl-coa thioesterase; acyl-coenzyme A thioesterase 8; choloyl-CoA hydrolase; choloyl-coenzyme A thioesterase; hACTE-III; hACTEIII; HIV-Nef associated acyl-CoA thioesterase; HIV-Nef-associated acyl-CoA thioesterase; HNAACTE; hTE; long-chain fatty-acyl-CoA hydrolase; NAP1; Nef (lentivirus myristoylated factor) associated protein 1; palmitoyl-CoA hydrolase; peroxisomal acyl-CoA thioesterase 1; peroxisomal acyl-CoA thioesterase 2; peroxisomal acyl-coenzyme A thioester hydrolase 1; peroxisomal long-chain acyl-CoA thioesterase 1; PTE-1; PTE-2; PTE1; PTE2; thioesterase II; thioesterase III
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2045,841,721 - 45,857,405 (-)EnsemblGRCh38hg38GRCh38
GRCh382045,841,721 - 45,857,405 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372044,470,360 - 44,486,031 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,903,768 - 43,919,442 (-)NCBINCBI36hg18NCBI36
Build 342043,903,767 - 43,919,442NCBI
Celera2041,180,856 - 41,196,530 (-)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2041,212,129 - 41,227,770 (-)NCBIHuRef
CHM1_12044,373,492 - 44,389,180 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9153233   PMID:9299485   PMID:10092594   PMID:10799608   PMID:10807905   PMID:10944470   PMID:11549316   PMID:11755680   PMID:11780052   PMID:12477932   PMID:14702039   PMID:14709540  
PMID:15194431   PMID:15489334   PMID:16009940   PMID:16103133   PMID:16141203   PMID:16335799   PMID:16756494   PMID:16940157   PMID:17314511   PMID:17624024   PMID:20178365   PMID:21824805  
PMID:21873635   PMID:22002062   PMID:22190034   PMID:22810585   PMID:23540296   PMID:24457600   PMID:24788990   PMID:25416956   PMID:26186194   PMID:26423947   PMID:26496610   PMID:27025967  
PMID:27432908   PMID:27503909   PMID:27880917   PMID:28380382   PMID:28514442   PMID:29128334   PMID:29395067   PMID:29568061   PMID:30378028   PMID:31091453   PMID:31182584   PMID:31527615  
PMID:31586073   PMID:31753913   PMID:31796584   PMID:32296183   PMID:32457219   PMID:33060197  


Genomics

Comparative Map Data
ACOT8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2045,841,721 - 45,857,405 (-)EnsemblGRCh38hg38GRCh38
GRCh382045,841,721 - 45,857,405 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372044,470,360 - 44,486,031 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,903,768 - 43,919,442 (-)NCBINCBI36hg18NCBI36
Build 342043,903,767 - 43,919,442NCBI
Celera2041,180,856 - 41,196,530 (-)NCBI
Cytogenetic Map20q13.12NCBI
HuRef2041,212,129 - 41,227,770 (-)NCBIHuRef
CHM1_12044,373,492 - 44,389,180 (-)NCBICHM1_1
Acot8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,634,688 - 164,662,132 (-)NCBIGRCm39mm39
GRCm39 Ensembl2164,634,685 - 164,646,802 (-)Ensembl
GRCm382164,792,768 - 164,820,219 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2164,792,765 - 164,804,882 (-)EnsemblGRCm38mm10GRCm38
MGSCv372164,618,268 - 164,630,381 (-)NCBIGRCm37mm9NCBIm37
MGSCv362164,483,973 - 164,496,077 (-)NCBImm8
Celera2170,730,175 - 170,742,288 (-)NCBICelera
Cytogenetic Map2H3NCBI
Acot8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23153,531,192 - 153,542,851 (-)NCBI
Rnor_6.0 Ensembl3161,259,735 - 161,272,460 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03161,260,837 - 161,272,495 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03167,446,048 - 167,457,779 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43155,828,209 - 155,839,862 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13155,734,245 - 155,745,898 (-)NCBI
Celera3152,138,819 - 152,150,462 (-)NCBICelera
Cytogenetic Map3q42NCBI
Acot8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544511,434,082 - 11,454,806 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544511,434,649 - 11,454,806 (+)NCBIChiLan1.0ChiLan1.0
ACOT8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12043,268,264 - 43,283,989 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2043,268,264 - 43,283,989 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02042,180,734 - 42,196,466 (-)NCBIMhudiblu_PPA_v0panPan3
ACOT8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,149,415 - 33,163,086 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,128,290 - 33,163,050 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2432,676,438 - 32,690,112 (-)NCBI
ROS_Cfam_1.02433,859,698 - 33,873,388 (-)NCBI
UMICH_Zoey_3.12433,118,251 - 33,131,923 (-)NCBI
UNSW_CanFamBas_1.02433,233,332 - 33,246,997 (-)NCBI
UU_Cfam_GSD_1.02433,772,459 - 33,786,134 (-)NCBI
Acot8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,713,172 - 191,726,893 (+)NCBI
SpeTri2.0NW_0049365147,166,392 - 7,180,537 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACOT8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,039,628 - 48,054,335 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,039,627 - 48,054,335 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21753,685,696 - 53,700,414 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACOT8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1218,026,927 - 18,043,940 (+)NCBI
ChlSab1.1 Ensembl218,027,016 - 18,043,823 (+)Ensembl
Vero_WHO_p1.0NW_02366605066,666,666 - 66,683,894 (+)NCBI

Position Markers
RH80960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,482,065 - 44,482,244UniSTSGRCh37
Build 362043,915,472 - 43,915,651RGDNCBI36
Celera2041,192,562 - 41,192,741RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,223,789 - 41,223,968UniSTS
RH71172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,482,210 - 44,482,362UniSTSGRCh37
Build 362043,915,617 - 43,915,769RGDNCBI36
Celera2041,192,707 - 41,192,859RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,223,934 - 41,224,086UniSTS
GeneMap99-GB4 RH Map20257.54UniSTS
D20S569E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,470,172 - 44,470,325UniSTSGRCh37
Build 362043,903,579 - 43,903,732RGDNCBI36
Celera2041,180,667 - 41,180,820RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,211,941 - 41,212,094UniSTS
GeneMap99-GB4 RH Map20237.11UniSTS
NCBI RH Map20469.1UniSTS
RH12567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,470,394 - 44,470,557UniSTSGRCh37
Build 362043,903,801 - 43,903,964RGDNCBI36
Celera2041,180,889 - 41,181,052RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,212,163 - 41,212,326UniSTS
GeneMap99-GB4 RH Map20253.68UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3360
Count of miRNA genes:967
Interacting mature miRNAs:1188
Transcripts:ENST00000217455, ENST00000426915, ENST00000457981, ENST00000461272, ENST00000481938, ENST00000483141, ENST00000484783, ENST00000484975, ENST00000486165, ENST00000487205, ENST00000488679, ENST00000493118
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2366 2452 1511 404 1607 260 4175 1899 3399 320 1415 1554 161 1 1058 2666 4 2
Low 73 539 215 220 344 205 182 298 335 99 45 59 14 146 122 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF014404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF124264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI911038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM986979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB470803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000217455   ⟹   ENSP00000217455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,841,721 - 45,857,392 (-)Ensembl
RefSeq Acc Id: ENST00000426915   ⟹   ENSP00000416217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,853,422 - 45,857,309 (-)Ensembl
RefSeq Acc Id: ENST00000457981   ⟹   ENSP00000403862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,853,420 - 45,857,196 (-)Ensembl
RefSeq Acc Id: ENST00000461272   ⟹   ENSP00000435581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,841,726 - 45,857,389 (-)Ensembl
RefSeq Acc Id: ENST00000481938   ⟹   ENSP00000431175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,848,533 - 45,857,405 (-)Ensembl
RefSeq Acc Id: ENST00000483141   ⟹   ENSP00000434216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,842,747 - 45,857,369 (-)Ensembl
RefSeq Acc Id: ENST00000484783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,843,723 - 45,857,397 (-)Ensembl
RefSeq Acc Id: ENST00000484975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,842,023 - 45,849,110 (-)Ensembl
RefSeq Acc Id: ENST00000486165   ⟹   ENSP00000433923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,844,263 - 45,857,371 (-)Ensembl
RefSeq Acc Id: ENST00000487205   ⟹   ENSP00000419403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,841,765 - 45,855,284 (-)Ensembl
RefSeq Acc Id: ENST00000488679   ⟹   ENSP00000435115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,841,738 - 45,857,402 (-)Ensembl
RefSeq Acc Id: ENST00000493118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,842,023 - 45,857,371 (-)Ensembl
RefSeq Acc Id: ENST00000652771   ⟹   ENSP00000498636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2045,841,730 - 45,856,924 (-)Ensembl
RefSeq Acc Id: NM_005469   ⟹   NP_005460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,841,721 - 45,857,392 (-)NCBI
GRCh372044,470,360 - 44,486,048 (-)ENTREZGENE
GRCh372044,470,360 - 44,486,048 (-)NCBI
Build 362043,903,768 - 43,919,442 (-)NCBI Archive
HuRef2041,212,129 - 41,227,770 (-)ENTREZGENE
CHM1_12044,373,492 - 44,389,180 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005260239   ⟹   XP_005260296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,841,721 - 45,857,405 (-)NCBI
GRCh372044,470,360 - 44,486,048 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528480   ⟹   XP_011526782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,841,721 - 45,857,371 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001754105
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,841,721 - 45,857,405 (-)NCBI
Sequence:
RefSeq Acc Id: XR_244130
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,841,721 - 45,857,405 (-)NCBI
GRCh372044,470,360 - 44,486,048 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005460   ⟸   NM_005469
- UniProtKB: O14734 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005260296   ⟸   XM_005260239
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526782   ⟸   XM_011528480
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000416217   ⟸   ENST00000426915
RefSeq Acc Id: ENSP00000217455   ⟸   ENST00000217455
RefSeq Acc Id: ENSP00000498636   ⟸   ENST00000652771
RefSeq Acc Id: ENSP00000431175   ⟸   ENST00000481938
RefSeq Acc Id: ENSP00000403862   ⟸   ENST00000457981
RefSeq Acc Id: ENSP00000434216   ⟸   ENST00000483141
RefSeq Acc Id: ENSP00000433923   ⟸   ENST00000486165
RefSeq Acc Id: ENSP00000419403   ⟸   ENST00000487205
RefSeq Acc Id: ENSP00000435115   ⟸   ENST00000488679
RefSeq Acc Id: ENSP00000435581   ⟸   ENST00000461272

Promoters
RGD ID:6798512
Promoter ID:HG_KWN:39630
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000255152,   ENST00000347763,   OTTHUMT00000080338,   OTTHUMT00000080339,   OTTHUMT00000080340,   OTTHUMT00000080341,   OTTHUMT00000080342,   OTTHUMT00000280525,   OTTHUMT00000280526,   UC002XQC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,919,266 - 43,919,766 (-)MPROMDB
RGD ID:13207121
Promoter ID:EPDNEW_H27141
Type:initiation region
Name:ACOT8_1
Description:acyl-CoA thioesterase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,857,371 - 45,857,431EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_005469.3(ACOT8):c.55C>T (p.Pro19Ser) single nucleotide variant Malignant melanoma [RCV000063755] Chr20:45857261 [GRCh38]
Chr20:44485900 [GRCh37]
Chr20:43919307 [NCBI36]
Chr20:20q13.12
not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
Single allele deletion Focal seizures [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15919 AgrOrtholog
COSMIC ACOT8 COSMIC
Ensembl Genes ENSG00000101473 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000217455 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403862 UniProtKB/TrEMBL
  ENSP00000416217 UniProtKB/TrEMBL
  ENSP00000419403 UniProtKB/TrEMBL
  ENSP00000431175 UniProtKB/TrEMBL
  ENSP00000433923 UniProtKB/TrEMBL
  ENSP00000434216 UniProtKB/TrEMBL
  ENSP00000435115 UniProtKB/TrEMBL
  ENSP00000435581 UniProtKB/TrEMBL
  ENSP00000498636 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217455 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000426915 UniProtKB/TrEMBL
  ENST00000457981 UniProtKB/TrEMBL
  ENST00000461272 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000481938 UniProtKB/TrEMBL
  ENST00000483141 UniProtKB/TrEMBL
  ENST00000486165 UniProtKB/TrEMBL
  ENST00000487205 UniProtKB/TrEMBL
  ENST00000488679 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000652771 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.10.129.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101473 GTEx
HGNC ID HGNC:15919 ENTREZGENE
Human Proteome Map ACOT8 Human Proteome Map
InterPro Acyl-CoA_hotdog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl_CoA_thio UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HotDog_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10005 UniProtKB/Swiss-Prot
NCBI Gene 10005 ENTREZGENE
OMIM 608123 OMIM
PANTHER PTHR11066 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33941 PharmGKB
Superfamily-SCOP SSF54637 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs tesB UniProtKB/Swiss-Prot
UniProt A0A494C0N6_HUMAN UniProtKB/TrEMBL
  ACOT8_HUMAN UniProtKB/Swiss-Prot
  E9PIS4_HUMAN UniProtKB/TrEMBL
  E9PJN0_HUMAN UniProtKB/TrEMBL
  E9PMC4_HUMAN UniProtKB/TrEMBL
  E9PRD4_HUMAN UniProtKB/TrEMBL
  F6VBM3_HUMAN UniProtKB/TrEMBL
  H0Y698_HUMAN UniProtKB/TrEMBL
  H7C5A7_HUMAN UniProtKB/TrEMBL
  O14734 ENTREZGENE
  Q9BR14_HUMAN UniProtKB/TrEMBL
UniProt Secondary O15261 UniProtKB/Swiss-Prot
  Q17RX4 UniProtKB/Swiss-Prot