Hs02282704_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7219995 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACADVL	NM_000018.3			NP_000009.1
	NM_001033859.2			NP_001029031.1
	NM_001270447.1			NP_001257376.1
	NM_001270448.1	1	165	NP_001257377.1
	XM_006721516.2			XP_006721579.2
	XM_011523829.1			XP_011522131.1
	XM_011523830.1			XP_011522132.1
	AK056083.1	1	58
	AK056956.1
	AK058109.1
	AK097243.1
	AK222518.1			BAD96238.1
	AK293549.1
	AK302653.1
	AL536186.3
	BC000399.2			AAH00399.1
	BC012912.1			AAH12912.1
	BC020218.1			AAH20218.1
	BI822737.1
	D43682.1			BAA07781.1
	DA945553.1
	X86556.1			CAA60253.1

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 - Exon 1

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

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

More Information

• Set Membership: Intragenic, Exonic, 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