Hs04729494_cn

• Gene Symbol: ACAD11
• Assay Reference Genome Location: Chr.3:132654663 on build GRCh38
• Cytoband: 3q22.1

Target Gene Details

• Entrez Gene ID: 84129
• Gene Name: acyl-CoA dehydrogenase family member 11
• Gene Aliases: ACAD-11
• Location: Chr.3:132558138-132660131 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACAD11	NM_032169.4			NP_115545.3
	NR_132426.1
	NR_132427.1
	NR_132428.1
	AJ608287.1			CAE55233.1
	AK131265.1			BAD18443.1
	AK308380.1
	AL832873.1			CAH56354.1
	AL833721.1			CAH56228.1
	AX803783.1			CAE75545.1
	AX803785.1			CAE75546.1
	BC125204.1
	BC125205.1
	DA804241.1

Target Gene Details

• Entrez Gene ID: 100532724
• Gene Name: NPHP3-ACAD11 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.3:132558138-132722459 on Build GRCh38
• Assay Gene Location: Within Intron 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPHP3-ACAD11	NR_037804.1
	AB082531.1			BAC02709.1
	AY257867.1			AAP83426.1

Target Gene Details

• Entrez Gene ID: 79876
• Gene Name: ubiquitin like modifier activating enzyme 5
• Gene Aliases: THIFP1, UBE1DC1
• Location: Chr.3:132654446-132679786 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBA5	NM_198329.3			NP_938143.1
	DB457433.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv591798	Chr.3:132626804 - 132975557 on Build GRCh38	Loss	NPHP3-ACAD11 UBA5 NPHP3-AS1 ACAD11 NPHP3
nsv998211	Chr.3:132605119 - 132988974 on Build GRCh38	Loss	NPHP3-ACAD11 UBA5 NPHP3-AS1 ACAD11 NPHP3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase, ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

fatty acid beta-oxidation
fatty acid beta-oxidation using acyl-CoA dehydrogenase
lipid homeostasis
regulation of intracellular estrogen receptor signaling pathway
response to endoplasmic reticulum stress
cyclic threonylcarbamoyladenosine biosynthetic process
protein ufmylation
protein K69-linked ufmylation

Function(s)

fatty-acyl-CoA binding
acyl-CoA dehydrogenase activity
long-chain-acyl-CoA dehydrogenase activity
electron carrier activity
very-long-chain-acyl-CoA dehydrogenase activity
flavin adenine dinucleotide binding
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor
medium-chain-acyl-CoA dehydrogenase activity
protein binding
ATP binding
metal ion binding
tRNA threonylcarbamoyladenosine dehydratase
UFM1 activating enzyme activity