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	MIR324 ACADVL DLG4 DVL2
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	SAT2 TNK1 SNORA48 POLR2A TMEM95 TNFSF13 CTDNEP1 CLEC10A TMEM256 MIR324 SLC16A13 PLSCR3 DLG4 TMEM102 TNFSF12-TNFSF13 ALOX12-AS1 SHBG YBX2 C17orf49 MIR195 LOC100996842 ACADVL EIF4A1 BCL6B TMEM256-PLSCR3 SNORA67 ASGR1 GABARAP ALOX12P2 CLDN7 MIR497HG RNASEK CHRNB1 EIF5A TEKT1 NEURL4 FBXO39 LOC107983988 ELP5 FGF11 FXR2 SPEM1 PHF23 TNFSF12 SENP3-EIF4A1 SLC16A11 ALOX12 DVL2 SLC2A4 SENP3 GPS2 ACAP1 CD68 C17orf74 MPDU1 SNORD10 ATP1B2 SLC35G6 SOX15 MIR497 ZBTB4 NLGN2 KCTD11 RNASEK-C17orf49 ASGR2
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	PHF23 GABARAP CLDN7 ELP5 MIR324 ACADVL DLG4 CTDNEP1 DVL2
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	SLC2A4 GPS2 YBX2 ELP5 ACADVL CTDNEP1 PHF23 ASGR1 GABARAP CLDN7 MIR324 EIF5A ASGR2 DLG4 NEURL4 DVL2
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	LOC107983988 TNK1 ELP5 TMEM95 FGF11 CTDNEP1 SPEM1 PHF23 TMEM256 MIR324 PLSCR3 DLG4 DVL2 TMEM102 SLC2A4 GPS2 ACAP1 YBX2 C17orf74 ACADVL TMEM256-PLSCR3 ASGR1 GABARAP CLDN7 CHRNB1 NLGN2 EIF5A KCTD11 NEURL4
nsv457659	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	SAT2 TNK1 SNORA48 POLR2A TMEM95 TNFSF13 CTDNEP1 CLEC10A TMEM256 MIR324 SLC16A13 PLSCR3 DLG4 TMEM102 TNFSF12-TNFSF13 ALOX12-AS1 SHBG YBX2 C17orf49 MIR195 LOC100996842 ACADVL EIF4A1 BCL6B TMEM256-PLSCR3 SNORA67 ASGR1 GABARAP CLDN7 MIR497HG RNASEK CHRNB1 EIF5A NEURL4 LOC107983988 TP53 ELP5 WRAP53 FGF11 FXR2 SPEM1 PHF23 TNFSF12 SENP3-EIF4A1 SLC16A11 ALOX12 DVL2 SLC2A4 SENP3 GPS2 ACAP1 CD68 C17orf74 MPDU1 SNORD10 ATP1B2 SLC35G6 SOX15 MIR497 ZBTB4 NLGN2 KCTD11 RNASEK-C17orf49 ASGR2

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