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

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