ACAD8 (acyl-CoA dehydrogenase family member 8) - Rat Genome Database

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Gene: ACAD8 (acyl-CoA dehydrogenase family member 8) Homo sapiens
Analyze
Symbol: ACAD8
Name: acyl-CoA dehydrogenase family member 8
RGD ID: 1344764
HGNC Page HGNC
Description: Predicted to have acyl-CoA dehydrogenase activity and flavin adenine dinucleotide binding activity. Predicted to be involved in branched-chain amino acid catabolic process. Predicted to localize to mitochondrial matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAD-8; activator-recruited cofactor 42 kDa component; acyl-CoA dehydrogenase family, member 8; acyl-Coenzyme A dehydrogenase family, member 8; ARC42; FLJ22590; IBDH; isobutyryl-CoA dehydrogenase, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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 Ensembl11134,253,548 - 134,265,855 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl11134,253,495 - 134,265,855 (+)EnsemblGRCh38hg38GRCh38
GRCh3811134,253,538 - 134,265,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711134,123,462 - 134,135,749 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611133,628,644 - 133,640,959 (+)NCBINCBI36hg18NCBI36
Build 3411133,628,616 - 133,640,954NCBI
Celera11131,296,297 - 131,308,612 (+)NCBI
Cytogenetic Map11q25NCBI
HuRef11130,078,195 - 130,090,510 (+)NCBIHuRef
CHM1_111134,010,170 - 134,022,485 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:10235267   PMID:10524212   PMID:11013134   PMID:12359132   PMID:12477932   PMID:14702039   PMID:14752098   PMID:15489334   PMID:16806233   PMID:17387528   PMID:20360068   PMID:20877624  
PMID:23080069   PMID:23251661   PMID:24635911   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26598620   PMID:27432908   PMID:27499296   PMID:28514442   PMID:29987050  


Genomics

Comparative Map Data
ACAD8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11134,253,548 - 134,265,855 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl11134,253,495 - 134,265,855 (+)EnsemblGRCh38hg38GRCh38
GRCh3811134,253,538 - 134,265,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711134,123,462 - 134,135,749 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611133,628,644 - 133,640,959 (+)NCBINCBI36hg18NCBI36
Build 3411133,628,616 - 133,640,954NCBI
Celera11131,296,297 - 131,308,612 (+)NCBI
Cytogenetic Map11q25NCBI
HuRef11130,078,195 - 130,090,510 (+)NCBIHuRef
CHM1_111134,010,170 - 134,022,485 (+)NCBICHM1_1
Acad8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39926,885,434 - 26,910,872 (-)NCBIGRCm39mm39
GRCm39 Ensembl926,885,431 - 26,910,862 (-)Ensembl
GRCm38926,974,138 - 26,999,571 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl926,974,135 - 26,999,566 (-)EnsemblGRCm38mm10GRCm38
MGSCv37926,781,723 - 26,807,134 (-)NCBIGRCm37mm9NCBIm37
MGSCv36926,723,581 - 26,748,992 (-)NCBImm8
Celera924,232,315 - 24,257,730 (-)NCBICelera
Cytogenetic Map9A4NCBI
Acad8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2825,382,271 - 25,406,429 (-)NCBI
Rnor_6.0 Ensembl828,024,123 - 28,044,876 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0828,023,401 - 28,044,967 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0828,043,131 - 28,064,689 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4826,629,337 - 26,632,170 (-)NCBIRGSC3.4rn4RGSC3.4
Celera826,870,353 - 26,894,274 (-)NCBICelera
Cytogenetic Map8q13NCBI
Acad8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541235,067,702 - 35,083,889 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541235,067,637 - 35,083,889 (+)NCBIChiLan1.0ChiLan1.0
ACAD8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111132,964,053 - 132,976,097 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11132,964,071 - 132,976,092 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011129,106,646 - 129,118,773 (+)NCBIMhudiblu_PPA_v0panPan3
ACAD8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.15974,673 - 992,143 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl5976,008 - 992,330 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha51,095,480 - 1,112,953 (-)NCBI
ROS_Cfam_1.05931,393 - 949,231 (-)NCBI
UMICH_Zoey_3.15964,076 - 982,443 (-)NCBI
UNSW_CanFamBas_1.05964,777 - 982,619 (-)NCBI
UU_Cfam_GSD_1.051,002,757 - 1,019,593 (-)NCBI
Acad8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947116,011,700 - 116,030,452 (+)NCBI
SpeTri2.0NW_0049366841,572,386 - 1,591,231 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACAD8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1960,807,405 - 60,828,379 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2967,348,518 - 67,366,524 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACAD8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11125,314,481 - 125,327,045 (+)NCBI
ChlSab1.1 Ensembl1125,314,492 - 125,327,692 (+)Ensembl
Acad8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248128,810,597 - 8,828,664 (+)NCBI

Position Markers
SGC32443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,124,034 - 134,124,175UniSTSGRCh37
Build 3611133,629,244 - 133,629,385RGDNCBI36
Celera11131,296,897 - 131,297,038RGD
Cytogenetic Map11q25UniSTS
HuRef11130,078,795 - 130,078,936UniSTS
GeneMap99-GB4 RH Map11439.61UniSTS
Whitehead-RH Map11606.0UniSTS
STS-N26556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,133,653 - 134,133,792UniSTSGRCh37
Build 3611133,638,863 - 133,639,002RGDNCBI36
Celera11131,306,516 - 131,306,655RGD
Cytogenetic Map11q25UniSTS
HuRef11130,088,414 - 130,088,553UniSTS
GeneMap99-GB4 RH Map11431.56UniSTS
NCBI RH Map111103.0UniSTS
RH11494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711134,135,306 - 134,135,457UniSTSGRCh37
Build 3611133,640,516 - 133,640,667RGDNCBI36
Celera11131,308,169 - 131,308,320RGD
Cytogenetic Map11q25UniSTS
HuRef11130,090,067 - 130,090,218UniSTS
GeneMap99-GB4 RH Map11431.56UniSTS
NCBI RH Map111103.0UniSTS
SGC32153  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q25UniSTS
GeneMap99-GB4 RH Map11433.88UniSTS
Whitehead-RH Map11600.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6049
Count of miRNA genes:1330
Interacting mature miRNAs:1739
Transcripts:ENST00000281182, ENST00000374752, ENST00000524426, ENST00000524502, ENST00000524547, ENST00000524739, ENST00000525961, ENST00000526026, ENST00000527082, ENST00000527665, ENST00000527713, ENST00000528325, ENST00000530533, ENST00000531338, ENST00000533387, ENST00000534240, ENST00000534433, ENST00000537423, ENST00000543332
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 2322 2124 1587 500 1215 343 4242 1993 2809 294 1339 1512 167 1 1155 2750 3 2
Low 117 867 139 124 735 122 115 204 925 125 121 101 7 49 38 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF126245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI549961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281182   ⟹   ENSP00000281182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,568 - 134,265,855 (+)Ensembl
RefSeq Acc Id: ENST00000374752   ⟹   ENSP00000363884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,561 - 134,265,850 (+)Ensembl
RefSeq Acc Id: ENST00000524426   ⟹   ENSP00000431310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,558 - 134,262,612 (+)Ensembl
RefSeq Acc Id: ENST00000524502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,262,185 - 134,264,061 (+)Ensembl
RefSeq Acc Id: ENST00000524547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,617 - 134,262,527 (+)Ensembl
RefSeq Acc Id: ENST00000524739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,259,238 - 134,260,552 (+)Ensembl
RefSeq Acc Id: ENST00000525961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,564 - 134,256,910 (+)Ensembl
RefSeq Acc Id: ENST00000526026   ⟹   ENSP00000431532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,548 - 134,262,958 (+)Ensembl
RefSeq Acc Id: ENST00000527082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,577 - 134,259,925 (+)Ensembl
RefSeq Acc Id: ENST00000527665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,257,747 - 134,261,885 (+)Ensembl
RefSeq Acc Id: ENST00000527713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,258,892 - 134,261,179 (+)Ensembl
RefSeq Acc Id: ENST00000528325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,256,610 - 134,260,282 (+)Ensembl
RefSeq Acc Id: ENST00000530533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,568 - 134,260,614 (+)Ensembl
RefSeq Acc Id: ENST00000531338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,256,583 - 134,265,850 (+)Ensembl
RefSeq Acc Id: ENST00000533387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,569 - 134,265,850 (+)Ensembl
RefSeq Acc Id: ENST00000534240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,569 - 134,259,845 (+)Ensembl
RefSeq Acc Id: ENST00000534433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11134,253,559 - 134,260,140 (+)Ensembl
RefSeq Acc Id: NM_014384   ⟹   NP_055199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,568 - 134,265,855 (+)NCBI
GRCh3711134,123,428 - 134,135,749 (+)NCBI
Build 3611133,628,644 - 133,640,959 (+)NCBI Archive
Celera11131,296,297 - 131,308,612 (+)RGD
HuRef11130,078,195 - 130,090,510 (+)RGD
CHM1_111134,010,170 - 134,022,485 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271505   ⟹   XP_005271562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,858 (+)NCBI
GRCh3711134,123,428 - 134,135,749 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542750   ⟹   XP_011541052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,264,063 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017542   ⟹   XP_016873031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017543   ⟹   XP_016873032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017544   ⟹   XP_016873033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,661 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017545   ⟹   XP_016873034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,829 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017546   ⟹   XP_016873035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,538 - 134,265,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017547   ⟹   XP_016873036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,564 - 134,265,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017548   ⟹   XP_016873037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,263,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017549   ⟹   XP_016873038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,855 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448437   ⟹   XP_024304205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,253,548 - 134,265,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448438   ⟹   XP_024304206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811134,257,198 - 134,265,858 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_055199 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271562 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541052 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873031 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873032 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873033 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873034 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873035 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873036 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873037 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873038 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304205 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304206 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF12736 (Get FASTA)   NCBI Sequence Viewer  
  AAF97922 (Get FASTA)   NCBI Sequence Viewer  
  AAH01964 (Get FASTA)   NCBI Sequence Viewer  
  BAA91109 (Get FASTA)   NCBI Sequence Viewer  
  BAC11107 (Get FASTA)   NCBI Sequence Viewer  
  BAC86149 (Get FASTA)   NCBI Sequence Viewer  
  BAD92775 (Get FASTA)   NCBI Sequence Viewer  
  BAH13050 (Get FASTA)   NCBI Sequence Viewer  
  BAH13130 (Get FASTA)   NCBI Sequence Viewer  
  BAH13503 (Get FASTA)   NCBI Sequence Viewer  
  BAH13587 (Get FASTA)   NCBI Sequence Viewer  
  BAH13987 (Get FASTA)   NCBI Sequence Viewer  
  BAH14351 (Get FASTA)   NCBI Sequence Viewer  
  CAF85883 (Get FASTA)   NCBI Sequence Viewer  
  EAW67833 (Get FASTA)   NCBI Sequence Viewer  
  EAW67834 (Get FASTA)   NCBI Sequence Viewer  
  EAW67835 (Get FASTA)   NCBI Sequence Viewer  
  Q9UKU7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055199   ⟸   NM_014384
- UniProtKB: Q9UKU7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271562   ⟸   XM_005271505
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011541052   ⟸   XM_011542750
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873031   ⟸   XM_017017542
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873038   ⟸   XM_017017549
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016873034   ⟸   XM_017017545
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016873032   ⟸   XM_017017543
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016873033   ⟸   XM_017017544
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016873037   ⟸   XM_017017548
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016873035   ⟸   XM_017017546
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016873036   ⟸   XM_017017547
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024304205   ⟸   XM_024448437
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024304206   ⟸   XM_024448438
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000281182   ⟸   ENST00000281182
RefSeq Acc Id: ENSP00000363884   ⟸   ENST00000374752
RefSeq Acc Id: ENSP00000431310   ⟸   ENST00000524426
RefSeq Acc Id: ENSP00000431532   ⟸   ENST00000526026
Protein Domains
Acyl-CoA_dh_M

Promoters
RGD ID:6788790
Promoter ID:HG_KWN:14653
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:ENST00000392594,   NM_001037305,   NM_014174,   NM_014384,   NM_199297,   NM_199298,   UC001QHL.1,   UC009ZDB.1,   UC009ZDC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611133,628,291 - 133,628,791 (-)MPROMDB
RGD ID:7222699
Promoter ID:EPDNEW_H17093
Type:initiation region
Name:ACAD8_1
Description:acyl-CoA dehydrogenase family member 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
GRCh3811134,253,568 - 134,253,628EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014384.2(ACAD8):c.455T>C (p.Met152Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000005686] Chr11:134258589 [GRCh38]
Chr11:134128483 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000005687]|not provided [RCV000081615] Chr11:134262556 [GRCh38]
Chr11:134132450 [GRCh37]
Chr11:11q25
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000005688]|not provided [RCV000523989] Chr11:134261786 [GRCh38]
Chr11:134131680 [GRCh37]
Chr11:11q25
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014384.2(ACAD8):c.867C>A (p.His289Gln) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000005689] Chr11:134261300 [GRCh38]
Chr11:134131194 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000005690]|not provided [RCV000180314] Chr11:134261338 [GRCh38]
Chr11:134131232 [GRCh37]
Chr11:11q25
pathogenic|uncertain significance
NM_014384.2(ACAD8):c.210+6C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000545184]|not specified [RCV000597740] Chr11:134256654 [GRCh38]
Chr11:134126548 [GRCh37]
Chr11:11q25
benign
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q25(chr11:134232099-134998513)x1 copy number loss See cases [RCV000050928] Chr11:134232099..134998513 [GRCh38]
Chr11:134101993..134868407 [GRCh37]
Chr11:133607203..134373617 [NCBI36]
Chr11:11q25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1 copy number loss See cases [RCV000050843] Chr11:127604660..134998454 [GRCh38]
Chr11:127474555..134868348 [GRCh37]
Chr11:126979765..134373558 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3 copy number gain See cases [RCV000051162] Chr11:126445805..134998513 [GRCh38]
Chr11:126315700..134868407 [GRCh37]
Chr11:125820910..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1 copy number loss See cases [RCV000052741] Chr11:126433740..135040246 [GRCh38]
Chr11:126303635..134910140 [GRCh37]
Chr11:125808845..134415350 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1 copy number loss See cases [RCV000052742] Chr11:129700536..134998513 [GRCh38]
Chr11:129570431..134868407 [GRCh37]
Chr11:129075641..134373617 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1 copy number loss See cases [RCV000052743] Chr11:130060292..135040246 [GRCh38]
Chr11:129930187..134910140 [GRCh37]
Chr11:129435397..134415350 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q25(chr11:131587470-134609295)x1 copy number loss See cases [RCV000052744] Chr11:131587470..134609295 [GRCh38]
Chr11:131457364..134479189 [GRCh37]
Chr11:130962574..133984399 [NCBI36]
Chr11:11q25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q25(chr11:131311972-134998654)x3 copy number gain See cases [RCV000053659] Chr11:131311972..134998654 [GRCh38]
Chr11:131181867..134868548 [GRCh37]
Chr11:130687077..134373758 [NCBI36]
Chr11:11q25
pathogenic
NM_014384.2(ACAD8):c.635C>T (p.Pro212Leu) single nucleotide variant Malignant melanoma [RCV000069260] Chr11:134259675 [GRCh38]
Chr11:134129569 [GRCh37]
Chr11:133634779 [NCBI36]
Chr11:11q25
not provided
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000400133]|not specified [RCV000081616] Chr11:134253620 [GRCh38]
Chr11:134123514 [GRCh37]
Chr11:11q25
benign|likely benign|conflicting interpretations of pathogenicity
NM_014384.2(ACAD8):c.384G>A (p.Met128Ile) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001040333]|not provided [RCV000081617] Chr11:134258518 [GRCh38]
Chr11:134128412 [GRCh37]
Chr11:11q25
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014384.2(ACAD8):c.400G>T (p.Asp134Tyr) single nucleotide variant not provided [RCV000519940] Chr11:134258534 [GRCh38]
Chr11:134128428 [GRCh37]
Chr11:11q25
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014384.2(ACAD8):c.445_446CT[3] (p.Cys150fs) microsatellite not provided [RCV000081619] Chr11:134258578..134258579 [GRCh38]
Chr11:134128472..134128473 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.2(ACAD8):c.481A>G (p.Thr161Ala) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001061372]|not provided [RCV000081620] Chr11:134258615 [GRCh38]
Chr11:134128509 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000545969]|not provided [RCV000994755]|not specified [RCV000081621] Chr11:134259029 [GRCh38]
Chr11:134128923 [GRCh37]
Chr11:11q25
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014384.2(ACAD8):c.616C>G (p.Arg206Gly) single nucleotide variant not provided [RCV000081622] Chr11:134259656 [GRCh38]
Chr11:134129550 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000819166]|not provided [RCV000081623] Chr11:134261122 [GRCh38]
Chr11:134131016 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.977T>A (p.Leu326Gln) single nucleotide variant not provided [RCV000081624] Chr11:134261775 [GRCh38]
Chr11:134131669 [GRCh37]
Chr11:11q25
uncertain significance
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q25(chr11:132936725-134998513)x1 copy number loss See cases [RCV000133999] Chr11:132936725..134998513 [GRCh38]
Chr11:132806620..134868407 [GRCh37]
Chr11:132311830..134373617 [NCBI36]
Chr11:11q25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1 copy number loss See cases [RCV000136595] Chr11:126046358..134998513 [GRCh38]
Chr11:125916253..134868407 [GRCh37]
Chr11:125421463..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 copy number loss See cases [RCV000136612] Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q25(chr11:131212028-135075271)x1 copy number loss See cases [RCV000137583] Chr11:131212028..135075271 [GRCh38]
Chr11:131081923..134945165 [GRCh37]
Chr11:130587133..134450377 [NCBI36]
Chr11:11q25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1 copy number loss See cases [RCV000137719] Chr11:127564482..135075271 [GRCh38]
Chr11:127434377..134945165 [GRCh37]
Chr11:126939587..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1 copy number loss See cases [RCV000138163] Chr11:126046358..135075271 [GRCh38]
Chr11:125916253..134945165 [GRCh37]
Chr11:125421463..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1 copy number loss See cases [RCV000139117] Chr11:126199589..135075271 [GRCh38]
Chr11:126069484..134945165 [GRCh37]
Chr11:125574694..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1 copy number loss See cases [RCV000142626] Chr11:130706504..135075271 [GRCh38]
Chr11:130576399..134945165 [GRCh37]
Chr11:130081609..134450377 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q25(chr11:133169303-135068576)x1 copy number loss See cases [RCV000143290] Chr11:133169303..135068576 [GRCh38]
Chr11:133039198..134938470 [GRCh37]
Chr11:132544408..134443680 [NCBI36]
Chr11:11q25
likely pathogenic
GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1 copy number loss See cases [RCV000143755] Chr11:127915964..135068576 [GRCh38]
Chr11:127785859..134938470 [GRCh37]
Chr11:127291069..134443680 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q25(chr11:132588975-135068576)x1 copy number loss See cases [RCV000143655] Chr11:132588975..135068576 [GRCh38]
Chr11:132458870..134938470 [GRCh37]
Chr11:131964080..134443680 [NCBI36]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp) single nucleotide variant not provided [RCV000152726] Chr11:134257112 [GRCh38]
Chr11:134127006 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000816499]|not provided [RCV000152727] Chr11:134261763 [GRCh38]
Chr11:134131657 [GRCh37]
Chr11:11q25
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) copy number loss 11q partial monosomy syndrome [RCV000767602] Chr11:125446101..134904063 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q25(chr11:134019210-134746628)x3 copy number gain See cases [RCV000240041] Chr11:134019210..134746628 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1 copy number loss See cases [RCV000240313] Chr11:126631558..134868407 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_014384.2(ACAD8):c.567+12C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000321014] Chr11:134259096 [GRCh38]
Chr11:134128990 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.337G>A (p.Ala113Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000370957]|not provided [RCV000418052] Chr11:134257214 [GRCh38]
Chr11:134127108 [GRCh37]
Chr11:11q25
likely pathogenic|uncertain significance
NM_014384.2(ACAD8):c.*608G>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000304280] Chr11:134265568 [GRCh38]
Chr11:134135462 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.841+9C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000267856] Chr11:134261188 [GRCh38]
Chr11:134131082 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.842-8C>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000372876]|not provided [RCV000872934] Chr11:134261267 [GRCh38]
Chr11:134131161 [GRCh37]
Chr11:11q25
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014384.2(ACAD8):c.*351C>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000399923] Chr11:134265311 [GRCh38]
Chr11:134135205 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*168G>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000351129] Chr11:134265128 [GRCh38]
Chr11:134135022 [GRCh37]
Chr11:11q25
benign|uncertain significance
NM_014384.2(ACAD8):c.*377C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000310118] Chr11:134265337 [GRCh38]
Chr11:134135231 [GRCh37]
Chr11:11q25
benign|likely benign
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000293860] Chr11:134264945 [GRCh38]
Chr11:134134839 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.1195+12C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000385732]|not specified [RCV000594771] Chr11:134262634 [GRCh38]
Chr11:134132528 [GRCh37]
Chr11:11q25
benign|likely benign
NM_014384.2(ACAD8):c.525C>T (p.Ser175=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000365006] Chr11:134259042 [GRCh38]
Chr11:134128936 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*705T>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000317585] Chr11:134265665 [GRCh38]
Chr11:134135559 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.1092C>T (p.Ala364=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000280786] Chr11:134261890 [GRCh38]
Chr11:134131784 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*494A>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000392910] Chr11:134265454 [GRCh38]
Chr11:134135348 [GRCh37]
Chr11:11q25
likely benign|uncertain significance
NM_014384.2(ACAD8):c.*696A>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000260003] Chr11:134265656 [GRCh38]
Chr11:134135550 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.110-9T>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000349134] Chr11:134256539 [GRCh38]
Chr11:134126433 [GRCh37]
Chr11:11q25
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014384.2(ACAD8):c.558T>C (p.Asn186=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000273004] Chr11:134259075 [GRCh38]
Chr11:134128969 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*277C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000306742] Chr11:134265237 [GRCh38]
Chr11:134135131 [GRCh37]
Chr11:11q25
benign|likely benign
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000807309]|not provided [RCV000281568] Chr11:134258600 [GRCh38]
Chr11:134128494 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.841+7T>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000377935]|not specified [RCV000597073] Chr11:134261186 [GRCh38]
Chr11:134131080 [GRCh37]
Chr11:11q25
benign|likely benign|conflicting interpretations of pathogenicity
NM_014384.2(ACAD8):c.*874C>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000356018] Chr11:134265834 [GRCh38]
Chr11:134135728 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.289G>A (p.Gly97Arg) single nucleotide variant not provided [RCV000395198] Chr11:134257166 [GRCh38]
Chr11:134127060 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.211-4A>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000407952] Chr11:134257084 [GRCh38]
Chr11:134126978 [GRCh37]
Chr11:11q25
benign|uncertain significance
NM_014384.2(ACAD8):c.605T>A (p.Val202Glu) single nucleotide variant not provided [RCV000261169] Chr11:134259645 [GRCh38]
Chr11:134129539 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1092+3_1092+6del deletion Deficiency of isobutyryl-CoA dehydrogenase [RCV001299546]|not provided [RCV000294708] Chr11:134261891..134261894 [GRCh38]
Chr11:134131787..134131790 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.841+15G>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000316008] Chr11:134261194 [GRCh38]
Chr11:134131088 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*652C>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000361701] Chr11:134265612 [GRCh38]
Chr11:134135506 [GRCh37]
Chr11:11q25
likely benign|uncertain significance
NM_014384.2(ACAD8):c.381-4T>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000269478] Chr11:134258511 [GRCh38]
Chr11:134128405 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*306C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000345221] Chr11:134265266 [GRCh38]
Chr11:134135160 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.1195+1G>C single nucleotide variant not provided [RCV000520569] Chr11:134262623 [GRCh38]
Chr11:134132517 [GRCh37]
Chr11:11q25
likely pathogenic
NM_014384.2(ACAD8):c.-67G>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000321109] Chr11:134253534 [GRCh38]
Chr11:134123428 [GRCh37]
Chr11:11q25
likely benign
NM_014384.2(ACAD8):c.432A>G (p.Lys144=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000308278] Chr11:134258566 [GRCh38]
Chr11:134128460 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*238G>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000389938] Chr11:134265198 [GRCh38]
Chr11:134135092 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.*441C>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000357919] Chr11:134265401 [GRCh38]
Chr11:134135295 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.99C>T (p.Ser33=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000301348] Chr11:134253699 [GRCh38]
Chr11:134123593 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.275A>G (p.Gln92Arg) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000314027] Chr11:134257152 [GRCh38]
Chr11:134127046 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.1093-22T>C single nucleotide variant not specified [RCV000591226] Chr11:134262498 [GRCh38]
Chr11:134132392 [GRCh37]
Chr11:11q25
benign
GRCh37/hg19 11q25(chr11:133325079-134157243) copy number loss 11q partial monosomy syndrome [RCV000767603] Chr11:133325079..134157243 [GRCh37]
Chr11:11q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.731G>A (p.Arg244Gln) single nucleotide variant not provided [RCV000733053] Chr11:134261069 [GRCh38]
Chr11:134130963 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.567+1G>A single nucleotide variant not provided [RCV000412845] Chr11:134259085 [GRCh38]
Chr11:134128979 [GRCh37]
Chr11:11q25
pathogenic
GRCh37/hg19 11q25(chr11:133923605-134934063)x3 copy number gain See cases [RCV000515562] Chr11:133923605..134934063 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000692863]|not provided [RCV000414228] Chr11:134261756 [GRCh38]
Chr11:134131650 [GRCh37]
Chr11:11q25
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125662934-134938470)x1 copy number loss See cases [RCV000447129] Chr11:125662934..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.473A>G (p.Tyr158Cys) single nucleotide variant not provided [RCV000442521] Chr11:134258607 [GRCh38]
Chr11:134128501 [GRCh37]
Chr11:11q25
likely pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
NM_014384.2(ACAD8):c.46_52del (p.Leu16fs) deletion not provided [RCV000484986] Chr11:134253646..134253652 [GRCh38]
Chr11:134123540..134123546 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.2(ACAD8):c.386G>A (p.Cys129Tyr) single nucleotide variant not provided [RCV000486505] Chr11:134258520 [GRCh38]
Chr11:134128414 [GRCh37]
Chr11:11q25
likely pathogenic
NM_014384.2(ACAD8):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000493586] Chr11:134253603 [GRCh38]
Chr11:134123497 [GRCh37]
Chr11:11q25
likely pathogenic
NM_014384.2(ACAD8):c.233T>C (p.Met78Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001055924]|not provided [RCV000494326] Chr11:134257110 [GRCh38]
Chr11:134127004 [GRCh37]
Chr11:11q25
likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1 copy number loss See cases [RCV000511052] Chr11:129721809..134938470 [GRCh37]
Chr11:11q24.3-25
pathogenic
GRCh37/hg19 11q25(chr11:131426397-134938470)x1 copy number loss See cases [RCV000511121] Chr11:131426397..134938470 [GRCh37]
Chr11:11q25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q25(chr11:133328654-134177275)x3 copy number gain See cases [RCV000510975] Chr11:133328654..134177275 [GRCh37]
Chr11:11q25
likely benign
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1 copy number loss See cases [RCV000511303] Chr11:126762944..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000557449] Chr11:134257170 [GRCh38]
Chr11:134127064 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000535761]|not provided [RCV000994754] Chr11:134258543 [GRCh38]
Chr11:134128437 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q25(chr11:133609389-134938470)x1 copy number loss See cases [RCV000512352] Chr11:133609389..134938470 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.706-21G>A single nucleotide variant not specified [RCV000594383] Chr11:134261023 [GRCh38]
Chr11:134130917 [GRCh37]
Chr11:11q25
benign
NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000645375] Chr11:134257127 [GRCh38]
Chr11:134127021 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000645376] Chr11:134261802 [GRCh38]
Chr11:134131696 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.380+7G>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000645377] Chr11:134257264 [GRCh38]
Chr11:134127158 [GRCh37]
Chr11:11q25
likely benign
GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1 copy number loss See cases [RCV000663397] Chr11:125937383..134934063 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q25(chr11:132187876-134938470)x1 copy number loss not provided [RCV000683361] Chr11:132187876..134938470 [GRCh37]
Chr11:11q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1 copy number loss not provided [RCV000683368] Chr11:129072293..134938470 [GRCh37]
Chr11:11q24.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000686692] Chr11:134253602 [GRCh38]
Chr11:134123496 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.734C>T (p.Ala245Val) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000691186] Chr11:134261072 [GRCh38]
Chr11:134130966 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.730C>T (p.Arg244Ter) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000778902] Chr11:134261068 [GRCh38]
Chr11:134130962 [GRCh37]
Chr11:11q25
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3 copy number gain not provided [RCV000737697] Chr11:126362042..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:127751691-134938470)x3 copy number gain not provided [RCV000737699] Chr11:127751691..134938470 [GRCh37]
Chr11:11q24.2-25
benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1 copy number loss not provided [RCV000750223] Chr11:125366454..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q25(chr11:131740926-134934063)x1 copy number loss not provided [RCV000750237] Chr11:131740926..134934063 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.3(ACAD8):c.36C>G (p.Arg12=) single nucleotide variant not provided [RCV000921307] Chr11:134253636 [GRCh38]
Chr11:134123530 [GRCh37]
Chr11:11q25
likely benign
NM_014384.3(ACAD8):c.207G>A (p.Gln69=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001102997]|not provided [RCV000892847] Chr11:134256645 [GRCh38]
Chr11:134126539 [GRCh37]
Chr11:11q25
likely benign|uncertain significance
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001053625] Chr11:134261132 [GRCh38]
Chr11:134131026 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.867C>G (p.His289Gln) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001053626] Chr11:134261300 [GRCh38]
Chr11:134131194 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.381-9A>G single nucleotide variant not provided [RCV000980840] Chr11:134258506 [GRCh38]
Chr11:134128400 [GRCh37]
Chr11:11q25
likely benign
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) single nucleotide variant not provided [RCV000931472] Chr11:134257120 [GRCh38]
Chr11:134127014 [GRCh37]
Chr11:11q25
likely benign
NM_014384.3(ACAD8):c.801C>T (p.Leu267=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000872164] Chr11:134261139 [GRCh38]
Chr11:134131033 [GRCh37]
Chr11:11q25
benign
NM_014384.2(ACAD8):c.491-35C>A single nucleotide variant not provided [RCV000832391] Chr11:134258973 [GRCh38]
Chr11:134128867 [GRCh37]
Chr11:11q25
likely benign
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000799581] Chr11:134256571 [GRCh38]
Chr11:134126465 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.3(ACAD8):c.862G>A (p.Ala288Thr) single nucleotide variant not provided [RCV000994756] Chr11:134261295 [GRCh38]
Chr11:134131189 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q25(chr11:130969272-134938470)x1 copy number loss not provided [RCV000848686] Chr11:130969272..134938470 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000815639] Chr11:134261798 [GRCh38]
Chr11:134131692 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000815640] Chr11:134257169 [GRCh38]
Chr11:134127063 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.109+133G>C single nucleotide variant not provided [RCV000832387] Chr11:134253842 [GRCh38]
Chr11:134123736 [GRCh37]
Chr11:11q25
likely benign
NM_014384.2(ACAD8):c.110-174A>G single nucleotide variant not provided [RCV000832388] Chr11:134256374 [GRCh38]
Chr11:134126268 [GRCh37]
Chr11:11q25
likely benign
NM_014384.2(ACAD8):c.491-36T>C single nucleotide variant not provided [RCV000832389] Chr11:134258972 [GRCh38]
Chr11:134128866 [GRCh37]
Chr11:11q25
likely benign
NM_014384.2(ACAD8):c.643A>G (p.Ile215Val) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000802478] Chr11:134259683 [GRCh38]
Chr11:134129577 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000793961] Chr11:134261338 [GRCh38]
Chr11:134131232 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.444G>T (p.Pro148=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000875712] Chr11:134258578 [GRCh38]
Chr11:134128472 [GRCh37]
Chr11:11q25
likely benign
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV000820529] Chr11:134257185 [GRCh38]
Chr11:134127079 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q25(chr11:134054327-134200885)x1 copy number loss not provided [RCV001006465] Chr11:134054327..134200885 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001224788] Chr11:134257217 [GRCh38]
Chr11:134127111 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001240465] Chr11:134261882 [GRCh38]
Chr11:134131776 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.453C>T (p.Thr151=) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001104902] Chr11:134258587 [GRCh38]
Chr11:134128481 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001108303] Chr11:134262574 [GRCh38]
Chr11:134132468 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.380+7G>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001102999] Chr11:134257264 [GRCh38]
Chr11:134127158 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001106066] Chr11:134261144 [GRCh38]
Chr11:134131038 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) single nucleotide variant not provided [RCV000930506] Chr11:134259661 [GRCh38]
Chr11:134129555 [GRCh37]
Chr11:11q25
likely benign
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) single nucleotide variant not provided [RCV000917494] Chr11:134258542 [GRCh38]
Chr11:134128436 [GRCh37]
Chr11:11q25
likely benign
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001068359] Chr11:134261282 [GRCh38]
Chr11:134131176 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001242542] Chr11:134259055 [GRCh38]
Chr11:134128949 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001108302] Chr11:134261783 [GRCh38]
Chr11:134131677 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*69G>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001108304] Chr11:134265029 [GRCh38]
Chr11:134134923 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*82G>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001108305] Chr11:134265042 [GRCh38]
Chr11:134134936 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*683A>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001105011] Chr11:134265643 [GRCh38]
Chr11:134135537 [GRCh37]
Chr11:11q25
benign
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001228052] Chr11:134259044 [GRCh38]
Chr11:134128938 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.498G>A (p.Gly166=) single nucleotide variant not provided [RCV000891276] Chr11:134259015 [GRCh38]
Chr11:134128909 [GRCh37]
Chr11:11q25
likely benign
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q25(chr11:131327161-134938470)x3 copy number gain not provided [RCV001006461] Chr11:131327161..134938470 [GRCh37]
Chr11:11q25
uncertain significance
GRCh37/hg19 11q25(chr11:133841587-134507651)x3 copy number gain not provided [RCV001006464] Chr11:133841587..134507651 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*195G>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001103097] Chr11:134265155 [GRCh38]
Chr11:134135049 [GRCh37]
Chr11:11q25
benign
NM_014384.3(ACAD8):c.*202A>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001103098] Chr11:134265162 [GRCh38]
Chr11:134135056 [GRCh37]
Chr11:11q25
benign
NM_014384.3(ACAD8):c.491-6C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001104903] Chr11:134259002 [GRCh38]
Chr11:134128896 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001106067] Chr11:134261171 [GRCh38]
Chr11:134131065 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.842-15G>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001106068] Chr11:134261260 [GRCh38]
Chr11:134131154 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001102998] Chr11:134257245 [GRCh38]
Chr11:134127139 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*266T>A single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001103099] Chr11:134265226 [GRCh38]
Chr11:134135120 [GRCh37]
Chr11:11q25
uncertain significance
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001208668] Chr11:134261787 [GRCh38]
Chr11:134131681 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001104904] Chr11:134259011 [GRCh38]
Chr11:134128905 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*622C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001105009] Chr11:134265582 [GRCh38]
Chr11:134135476 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*634T>C single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001105010] Chr11:134265594 [GRCh38]
Chr11:134135488 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001106069] Chr11:134261320 [GRCh38]
Chr11:134131214 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.*190C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001103096] Chr11:134265150 [GRCh38]
Chr11:134135044 [GRCh37]
Chr11:11q25
benign
NM_014384.3(ACAD8):c.110-13A>G single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001108195] Chr11:134256535 [GRCh38]
Chr11:134126429 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001052041] Chr11:134257225 [GRCh38]
Chr11:134127119 [GRCh37]
Chr11:11q25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1 copy number loss not provided [RCV001258504] Chr11:125785487..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1 copy number loss not provided [RCV001258505] Chr11:127602115..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1 copy number loss not provided [RCV001258507] Chr11:130128323..134938470 [GRCh37]
Chr11:11q24.3-25
likely pathogenic
NM_014384.3(ACAD8):c.842-2A>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001336184] Chr11:134261273 [GRCh38]
Chr11:134131167 [GRCh37]
Chr11:11q25
pathogenic
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001340019] Chr11:134253664 [GRCh38]
Chr11:134123558 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1196-4_1196-2del deletion Deficiency of isobutyryl-CoA dehydrogenase [RCV001315598] Chr11:134264904..134264906 [GRCh38]
Chr11:134134798..134134800 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.763G>A (p.Val255Met) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001336183] Chr11:134261101 [GRCh38]
Chr11:134130995 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001320017] Chr11:134262560 [GRCh38]
Chr11:134132454 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.110-6C>T single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001337999] Chr11:134256542 [GRCh38]
Chr11:134126436 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001298364] Chr11:134261160 [GRCh38]
Chr11:134131054 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001352603] Chr11:134262620 [GRCh38]
Chr11:134132514 [GRCh37]
Chr11:11q25
uncertain significance
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg) single nucleotide variant Deficiency of isobutyryl-CoA dehydrogenase [RCV001304878] Chr11:134262581 [GRCh38]
Chr11:134132475 [GRCh37]
Chr11:11q25
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:87 AgrOrtholog
COSMIC ACAD8 COSMIC
Ensembl Genes ENSG00000151498 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000281182 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363884 UniProtKB/Swiss-Prot
  ENSP00000431310 UniProtKB/TrEMBL
  ENSP00000431532 UniProtKB/TrEMBL
Ensembl Transcript ENST00000281182 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374752 UniProtKB/Swiss-Prot
  ENST00000524426 UniProtKB/TrEMBL
  ENST00000526026 UniProtKB/TrEMBL
  ENST00000531338 ENTREZGENE
  ENST00000533387 ENTREZGENE
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151498 GTEx
HGNC ID HGNC:87 ENTREZGENE
Human Proteome Map ACAD8 Human Proteome Map
InterPro Acyl-CoA_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_cen-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH-like_C UniProtKB/Swiss-Prot
  AcylCo_DH/oxidase_C UniProtKB/Swiss-Prot
  AcylCoA_DH/ox_N UniProtKB/Swiss-Prot
  AcylCoA_DH/ox_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/oxidase_NM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IBD UniProtKB/Swiss-Prot
KEGG Report hsa:27034 UniProtKB/Swiss-Prot
NCBI Gene 27034 ENTREZGENE
OMIM 604773 OMIM
  611283 OMIM
Pfam Acyl-CoA_dh_1 UniProtKB/Swiss-Prot
  Acyl-CoA_dh_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_N UniProtKB/Swiss-Prot
PharmGKB PA24423 PharmGKB
PROSITE ACYL_COA_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47203 UniProtKB/Swiss-Prot
  SSF56645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACAD8_HUMAN UniProtKB/Swiss-Prot
  E9PKP9_HUMAN UniProtKB/TrEMBL
  E9PLS3_HUMAN UniProtKB/TrEMBL
  Q6ZUS0_HUMAN UniProtKB/TrEMBL
  Q9UKU7 ENTREZGENE
UniProt Secondary B7Z5W4 UniProtKB/Swiss-Prot
  Q6ZWP6 UniProtKB/Swiss-Prot
  Q9BUS8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ACAD8  acyl-CoA dehydrogenase family member 8  ACAD8  acyl-CoA dehydrogenase family, member 8  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACAD8  acyl-CoA dehydrogenase family, member 8  ACAD8  acyl-Coenzyme A dehydrogenase family, member 8  Symbol and/or name change 5135510 APPROVED