Hs00660937_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7219075 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	976	NP_001308003.1
	NM_001365.4	1	976	NP_001356.1
	NR_135527.1	1	976
	XM_011523698.1	1	774	XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1	1	664
	BC136553.1	1	509
	U83192.1	1	636	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	ACADVL MIR324 DLG4 DVL2
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	EIF5A TMEM256-PLSCR3 ZBTB4 PLSCR3 NEURL4 ASGR1 DVL2 RNASEK-C17orf49 ACADVL MIR324 TNK1 ALOX12 TNFSF12-TNFSF13 SOX15 YBX2 ASGR2 CTDNEP1 PHF23 SHBG RNASEK CLDN7 KCTD11 TEKT1 POLR2A ALOX12P2 DLG4 ELP5 ALOX12-AS1 SENP3 SNORA67 SPEM1 TMEM256 TMEM95 SNORA48 SLC2A4 EIF4A1 LOC100996842 MPDU1 BCL6B SLC16A13 ACAP1 SENP3-EIF4A1 TNFSF13 C17orf74 FGF11 MIR497 CLEC10A CHRNB1 GABARAP SNORD10 SLC16A11 NLGN2 LOC107983988 TNFSF12 TMEM102 MIR195 FBXO39 C17orf49 GPS2 ATP1B2 SLC35G6 CD68 FXR2 SAT2 MIR497HG
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	ACADVL MIR324 CTDNEP1 PHF23 DLG4 GABARAP ELP5 DVL2 CLDN7
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	EIF5A SLC2A4 YBX2 ASGR2 CTDNEP1 NEURL4 ASGR1 PHF23 DVL2 CLDN7 GPS2 ACADVL MIR324 DLG4 GABARAP ELP5
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	TMEM95 EIF5A SLC2A4 TMEM256-PLSCR3 PLSCR3 NEURL4 ASGR1 DVL2 ACAP1 C17orf74 ACADVL FGF11 MIR324 TNK1 CHRNB1 GABARAP NLGN2 YBX2 CTDNEP1 LOC107983988 PHF23 TMEM102 CLDN7 KCTD11 GPS2 DLG4 ELP5 SPEM1 TMEM256
nsv457659	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	EIF5A TMEM256-PLSCR3 ZBTB4 PLSCR3 NEURL4 ASGR1 DVL2 RNASEK-C17orf49 ACADVL MIR324 TNK1 ALOX12 TNFSF12-TNFSF13 SOX15 YBX2 ASGR2 CTDNEP1 PHF23 SHBG RNASEK CLDN7 KCTD11 POLR2A DLG4 ELP5 ALOX12-AS1 SENP3 SNORA67 SPEM1 TMEM256 TMEM95 SNORA48 SLC2A4 EIF4A1 TP53 LOC100996842 MPDU1 BCL6B SLC16A13 ACAP1 SENP3-EIF4A1 TNFSF13 C17orf74 FGF11 MIR497 CLEC10A CHRNB1 GABARAP WRAP53 SNORD10 SLC16A11 NLGN2 LOC107983988 TNFSF12 TMEM102 MIR195 C17orf49 GPS2 ATP1B2 SLC35G6 CD68 FXR2 SAT2 MIR497HG

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