Hs00174939_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7219289 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	762	NP_001308003.1
	NM_001365.4	1	762	NP_001356.1
	NR_135527.1	1	762
	XM_011523698.1	1	560	XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1	1	450
	BC136553.1	1	295
	DB064366.1
	U83192.1	1	422	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	MIR324 DLG4 ACADVL DVL2
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	FXR2 SENP3 LOC100996842 ASGR1 SLC16A13 EIF5A TNFSF13 SAT2 CLDN7 MPDU1 TNFSF12-TNFSF13 SNORD10 NLGN2 SLC2A4 ALOX12 MIR497HG CTDNEP1 GPS2 ZBTB4 TNK1 POLR2A ELP5 SLC16A11 ASGR2 LOC107983988 CD68 SOX15 EIF4A1 ATP1B2 SENP3-EIF4A1 RNASEK-C17orf49 PHF23 TMEM256 ACADVL TMEM102 YBX2 PLSCR3 TEKT1 TMEM256-PLSCR3 SNORA67 C17orf49 DLG4 SHBG CLEC10A SNORA48 KCTD11 SPEM1 ALOX12P2 FGF11 ALOX12-AS1 SLC35G6 MIR497 BCL6B TNFSF12 GABARAP MIR324 FBXO39 C17orf74 TMEM95 CHRNB1 ACAP1 RNASEK NEURL4 DVL2 MIR195
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	CLDN7 PHF23 MIR324 DLG4 CTDNEP1 ACADVL DVL2 GABARAP ELP5
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	PHF23 CTDNEP1 GPS2 ACADVL ASGR1 EIF5A YBX2 GABARAP ELP5 CLDN7 MIR324 ASGR2 DLG4 NEURL4 SLC2A4 DVL2
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	PHF23 TMEM256 ACADVL TMEM102 ASGR1 EIF5A YBX2 PLSCR3 TMEM256-PLSCR3 CLDN7 DLG4 NLGN2 SLC2A4 KCTD11 SPEM1 FGF11 CTDNEP1 GPS2 TNK1 GABARAP ELP5 MIR324 C17orf74 LOC107983988 TMEM95 CHRNB1 ACAP1 NEURL4 DVL2
nsv457659	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	FXR2 SENP3 LOC100996842 ASGR1 SLC16A13 EIF5A TNFSF13 SAT2 CLDN7 TP53 MPDU1 TNFSF12-TNFSF13 SNORD10 NLGN2 SLC2A4 ALOX12 MIR497HG CTDNEP1 GPS2 ZBTB4 TNK1 POLR2A ELP5 SLC16A11 ASGR2 LOC107983988 CD68 SOX15 EIF4A1 ATP1B2 SENP3-EIF4A1 RNASEK-C17orf49 PHF23 TMEM256 ACADVL TMEM102 YBX2 PLSCR3 TMEM256-PLSCR3 SNORA67 C17orf49 DLG4 WRAP53 SHBG CLEC10A SNORA48 KCTD11 SPEM1 FGF11 ALOX12-AS1 SLC35G6 MIR497 BCL6B TNFSF12 GABARAP MIR324 C17orf74 TMEM95 CHRNB1 ACAP1 RNASEK NEURL4 DVL2 MIR195

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