Hs00774805_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7219436 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	615	NP_001308003.1
	NM_001365.4	1	615	NP_001356.1
	NR_135527.1	1	615
	XM_011523698.1	1	413	XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1	1	303
	BC136553.1	1	148
	DB064366.1	1	401
	U83192.1	1	275	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 DLG4 MIR324 ACADVL
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	SNORD10 MIR497HG SNORA48 ELP5 NEURL4 DVL2 GPS2 DLG4 SENP3 MIR195 ALOX12 FGF11 NLGN2 ALOX12P2 TNK1 FBXO39 SOX15 SLC2A4 ZBTB4 TNFSF13 SAT2 BCL6B POLR2A EIF5A C17orf74 MIR324 MPDU1 KCTD11 TMEM256 RNASEK SNORA67 CD68 ACADVL TMEM256-PLSCR3 FXR2 GABARAP SENP3-EIF4A1 PLSCR3 TNFSF12 PHF23 SHBG ASGR1 TMEM95 C17orf49 TMEM102 YBX2 ACAP1 LOC100996842 CHRNB1 CLDN7 SPEM1 EIF4A1 LOC107983988 CTDNEP1 TEKT1 SLC16A13 TNFSF12-TNFSF13 RNASEK-C17orf49 CLEC10A ATP1B2 SLC16A11 ASGR2 MIR497 SLC35G6 ALOX12-AS1
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	CTDNEP1 DVL2 PHF23 ELP5 DLG4 MIR324 CLDN7 ACADVL GABARAP
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	EIF5A ELP5 C17orf74 MIR324 NEURL4 KCTD11 TMEM256 ACADVL TMEM256-PLSCR3 GABARAP PLSCR3 DVL2 PHF23 GPS2 DLG4 ASGR1 TMEM95 TMEM102 YBX2 ACAP1 FGF11 NLGN2 CHRNB1 TNK1 CLDN7 SPEM1 SLC2A4 LOC107983988 CTDNEP1
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	EIF5A ELP5 MIR324 NEURL4 CLDN7 ACADVL GABARAP SLC2A4 CTDNEP1 DVL2 PHF23 GPS2 DLG4 ASGR1 ASGR2 YBX2
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	SNORD10 MIR497HG SNORA48 ELP5 NEURL4 DVL2 GPS2 DLG4 SENP3 MIR195 ALOX12 FGF11 NLGN2 TNK1 SOX15 SLC2A4 WRAP53 ZBTB4 TNFSF13 SAT2 BCL6B POLR2A EIF5A C17orf74 MIR324 MPDU1 KCTD11 TMEM256 RNASEK SNORA67 CD68 ACADVL TMEM256-PLSCR3 FXR2 GABARAP SENP3-EIF4A1 PLSCR3 TNFSF12 PHF23 SHBG ASGR1 TMEM95 C17orf49 TMEM102 YBX2 ACAP1 LOC100996842 CHRNB1 TP53 CLDN7 SPEM1 EIF4A1 LOC107983988 CTDNEP1 SLC16A13 TNFSF12-TNFSF13 RNASEK-C17orf49 CLEC10A ATP1B2 SLC16A11 ASGR2 MIR497 SLC35G6 ALOX12-AS1

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