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

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