Hs01485942_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7218561 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 - Exon 2

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

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