Hs00174939_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7219289 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLG4	NM_001321074.1	1	762	NP_001308003.1
	NM_001365.4	1	762	NP_001356.1
	NR_135527.1	1	762
	XM_011523698.1	1	560	XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1	1	450
	BC136553.1	1	295
	DB064366.1
	U83192.1	1	422	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	TNFSF12 RNASEK-C17orf49 SAT2 ALOX12-AS1 ELP5 LOC100996842 C17orf49 PHF23 SNORA48 LOC107983988 ASGR1 C17orf74 CTDNEP1 FXR2 SLC16A11 TNK1 CLEC10A MIR324 GPS2 SLC2A4 GABARAP ATP1B2 ACADVL EIF5A SLC16A13 FGF11 ASGR2 TMEM256-PLSCR3 SNORD10 SHBG MIR497HG MIR497 NEURL4 SNORA67 EIF4A1 SENP3-EIF4A1 KCTD11 TNFSF13 SPEM1 CHRNB1 PLSCR3 ALOX12P2 NLGN2 TEKT1 MPDU1 DVL2 TNFSF12-TNFSF13 MIR195 ACAP1 FBXO39 BCL6B YBX2 DLG4 POLR2A TMEM95 RNASEK SOX15 ZBTB4 TMEM256 TMEM102 CD68 SLC35G6 CLDN7 SENP3 ALOX12
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	MIR324 ACADVL ELP5 GABARAP DLG4 CTDNEP1 CLDN7 PHF23 DVL2
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	NEURL4 ELP5 KCTD11 PHF23 SPEM1 CHRNB1 PLSCR3 LOC107983988 ASGR1 C17orf74 CTDNEP1 NLGN2 DVL2 TNK1 MIR324 GPS2 ACAP1 YBX2 SLC2A4 GABARAP DLG4 TMEM95 ACADVL EIF5A TMEM256 TMEM102 FGF11 CLDN7 TMEM256-PLSCR3
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	MIR324 GPS2 NEURL4 YBX2 SLC2A4 ELP5 GABARAP DLG4 PHF23 ACADVL EIF5A ASGR1 CTDNEP1 CLDN7 ASGR2 DVL2
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	WRAP53 TNFSF12 RNASEK-C17orf49 SAT2 ALOX12-AS1 ELP5 LOC100996842 C17orf49 PHF23 SNORA48 LOC107983988 ASGR1 C17orf74 CTDNEP1 FXR2 SLC16A11 TNK1 CLEC10A MIR324 GPS2 SLC2A4 GABARAP ATP1B2 ACADVL EIF5A SLC16A13 FGF11 ASGR2 TMEM256-PLSCR3 SNORD10 SHBG MIR497HG MIR497 NEURL4 SNORA67 EIF4A1 SENP3-EIF4A1 KCTD11 TNFSF13 SPEM1 CHRNB1 PLSCR3 NLGN2 MPDU1 DVL2 TNFSF12-TNFSF13 MIR195 ACAP1 BCL6B YBX2 DLG4 POLR2A TMEM95 RNASEK SOX15 ZBTB4 TMEM256 TP53 TMEM102 CD68 SLC35G6 CLDN7 SENP3 ALOX12

More Information

• Set Membership: Intragenic, Exonic, 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