Hs01409764_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7218293 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 37
• Gene Name: acyl-CoA dehydrogenase, very long chain
• Gene Aliases: ACAD6, LCACD, VLCAD
• Location: Chr.17:7217125-7225267 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACADVL	NM_001270447.1			NP_001257376.1
	AK293549.1

Target Gene Details

• Entrez Gene ID: 1742
• Gene Name: discs large MAGUK scaffold protein 4
• Gene Aliases: PSD95, SAP-90, SAP90
• Location: Chr.17:7189890-7220050 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLG4	NM_001321074.1			NP_001308003.1
	NM_001365.4			NP_001356.1
	NR_135527.1
	XM_011523698.1			XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1
	AK316096.1
	BC136553.1
	U83192.1			AAC52113.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1962	Chr.17:7201180 - 7234067 on Build GRCh38	Insertion	DLG4 MIR324 DVL2 ACADVL
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	SPEM1 TMEM256 EIF5A YBX2 ASGR1 RNASEK-C17orf49 CLEC10A SHBG GABARAP EIF4A1 SNORD10 TMEM256-PLSCR3 CD68 FGF11 LOC107983988 GPS2 DVL2 BCL6B ATP1B2 RNASEK ALOX12 SNORA67 SOX15 PLSCR3 SLC16A13 ACAP1 CLDN7 SNORA48 NEURL4 C17orf74 NLGN2 TNFSF12-TNFSF13 TMEM95 ACADVL TNFSF13 FBXO39 MIR497 ASGR2 ALOX12P2 LOC100996842 TNFSF12 SLC35G6 TEKT1 MIR195 ELP5 SENP3-EIF4A1 PHF23 SLC2A4 FXR2 C17orf49 SENP3 ZBTB4 DLG4 CHRNB1 MPDU1 TNK1 POLR2A KCTD11 CTDNEP1 MIR497HG SAT2 TMEM102 ALOX12-AS1 MIR324 SLC16A11
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	CTDNEP1 GABARAP ELP5 DLG4 PHF23 MIR324 CLDN7 DVL2 ACADVL
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	SPEM1 TMEM256 EIF5A YBX2 ASGR1 GABARAP ELP5 PHF23 SLC2A4 TMEM256-PLSCR3 FGF11 LOC107983988 GPS2 DVL2 DLG4 CHRNB1 TNK1 PLSCR3 ACAP1 CLDN7 NEURL4 KCTD11 CTDNEP1 C17orf74 NLGN2 TMEM102 MIR324 TMEM95 ACADVL
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	EIF5A DLG4 YBX2 ASGR1 ASGR2 CLDN7 NEURL4 CTDNEP1 GABARAP ELP5 PHF23 SLC2A4 MIR324 GPS2 DVL2 ACADVL
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	SPEM1 TMEM256 EIF5A YBX2 ASGR1 RNASEK-C17orf49 CLEC10A SHBG GABARAP EIF4A1 SNORD10 TMEM256-PLSCR3 CD68 FGF11 LOC107983988 GPS2 DVL2 BCL6B ATP1B2 RNASEK ALOX12 SNORA67 SOX15 PLSCR3 SLC16A13 ACAP1 CLDN7 SNORA48 NEURL4 C17orf74 NLGN2 TNFSF12-TNFSF13 WRAP53 TMEM95 ACADVL TNFSF13 MIR497 ASGR2 LOC100996842 TNFSF12 SLC35G6 MIR195 ELP5 SENP3-EIF4A1 PHF23 SLC2A4 FXR2 C17orf49 SENP3 TP53 ZBTB4 DLG4 CHRNB1 MPDU1 TNK1 POLR2A KCTD11 CTDNEP1 MIR497HG SAT2 TMEM102 ALOX12-AS1 MIR324 SLC16A11

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase, scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

temperature homeostasis
fatty acid beta-oxidation
energy derivation by oxidation of organic compounds
epithelial cell differentiation
fatty acid beta-oxidation using acyl-CoA dehydrogenase
IRE1-mediated unfolded protein response
very long-chain fatty acid catabolic process
negative regulation of fatty acid biosynthetic process
negative regulation of fatty acid oxidation
lipid homeostasis
regulation of cholesterol metabolic process
MAPK cascade
negative regulation of receptor internalization
protein complex assembly
signal transduction
positive regulation of cytosolic calcium ion concentration
chemical synaptic transmission
nervous system development
learning
synaptic vesicle maturation
ion transmembrane transport
social behavior
protein localization to synapse
locomotory exploration behavior
positive regulation of GTPase activity
establishment of protein localization
establishment or maintenance of epithelial cell apical/basal polarity
GMP metabolic process
GDP metabolic process
regulation of long-term neuronal synaptic plasticity
positive regulation of synaptic transmission
neuromuscular process controlling balance
dendritic spine morphogenesis
vocalization behavior
AMPA glutamate receptor clustering
receptor localization to synapse
regulation of N-methyl-D-aspartate selective glutamate receptor activity
positive regulation of excitatory postsynaptic potential
regulation of grooming behavior

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
guanylate kinase activity
Ras guanyl-nucleotide exchange factor activity
protein binding
protein C-terminus binding
ligand-gated ion channel activity
kinase binding
protein phosphatase binding
PDZ domain binding
beta-1 adrenergic receptor binding
D1 dopamine receptor binding
P2Y1 nucleotide receptor binding
protein complex binding
acetylcholine receptor binding
ionotropic glutamate receptor binding
neuroligin family protein binding
scaffold protein binding