Hs00321601_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7218895 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	1156	NP_001308003.1
	NM_001365.4	1	1156	NP_001356.1
	NR_135527.1	1	1156
	XM_011523698.1	1	954	XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1	1	844
	BC136553.1	1	689
	U83192.1	1	816	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	DLG4 MIR324 DVL2 ACADVL
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	SLC35G6 CLDN7 FBXO39 KCTD11 GABARAP EIF5A SNORA48 CD68 MIR497 SLC2A4 SNORD10 TEKT1 C17orf74 TNFSF12 NLGN2 ACAP1 SLC16A11 ATP1B2 CHRNB1 SENP3 ASGR1 TNFSF12-TNFSF13 PHF23 ZBTB4 SOX15 DVL2 MIR497HG SENP3-EIF4A1 MPDU1 POLR2A SPEM1 FGF11 SLC16A13 MIR324 RNASEK-C17orf49 ALOX12-AS1 YBX2 CTDNEP1 ALOX12 SAT2 BCL6B SNORA67 C17orf49 MIR195 PLSCR3 FXR2 SHBG DLG4 ALOX12P2 LOC100996842 TMEM102 RNASEK CLEC10A NEURL4 LOC107983988 ASGR2 ELP5 TNK1 GPS2 TNFSF13 TMEM95 ACADVL TMEM256-PLSCR3 EIF4A1 TMEM256
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	ELP5 DLG4 CLDN7 MIR324 DVL2 GABARAP ACADVL CTDNEP1 PHF23
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	CLDN7 MIR324 KCTD11 YBX2 GABARAP EIF5A CTDNEP1 SLC2A4 C17orf74 PLSCR3 NLGN2 ACAP1 DLG4 CHRNB1 ASGR1 TMEM102 NEURL4 LOC107983988 PHF23 ELP5 TNK1 GPS2 DVL2 TMEM95 ACADVL TMEM256-PLSCR3 SPEM1 TMEM256 FGF11
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	DLG4 CLDN7 MIR324 YBX2 ASGR1 GABARAP EIF5A CTDNEP1 NEURL4 PHF23 ASGR2 ELP5 GPS2 SLC2A4 DVL2 ACADVL
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	SLC35G6 CLDN7 KCTD11 GABARAP EIF5A TP53 SNORA48 CD68 MIR497 SLC2A4 SNORD10 C17orf74 TNFSF12 NLGN2 ACAP1 SLC16A11 ATP1B2 CHRNB1 SENP3 ASGR1 TNFSF12-TNFSF13 PHF23 ZBTB4 SOX15 DVL2 MIR497HG SENP3-EIF4A1 MPDU1 POLR2A SPEM1 FGF11 SLC16A13 MIR324 RNASEK-C17orf49 ALOX12-AS1 YBX2 CTDNEP1 ALOX12 SAT2 BCL6B SNORA67 C17orf49 MIR195 PLSCR3 FXR2 SHBG DLG4 WRAP53 LOC100996842 TMEM102 RNASEK CLEC10A NEURL4 LOC107983988 ASGR2 ELP5 TNK1 GPS2 TNFSF13 TMEM95 ACADVL TMEM256-PLSCR3 EIF4A1 TMEM256

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