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

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