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	DVL2 DLG4 MIR324 ACADVL
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	TMEM95 ASGR1 SLC16A13 CTDNEP1 SNORA48 DVL2 TNK1 SLC2A4 TNFSF12-TNFSF13 SENP3-EIF4A1 MIR497HG ELP5 SENP3 EIF4A1 TEKT1 RNASEK C17orf74 FBXO39 LOC107983988 SLC35G6 TNFSF13 EIF5A PHF23 BCL6B ZBTB4 LOC100996842 SNORA67 ALOX12-AS1 MIR497 SAT2 ALOX12 DLG4 TMEM256-PLSCR3 ASGR2 MPDU1 MIR195 ATP1B2 NLGN2 KCTD11 ALOX12P2 TMEM256 MIR324 NEURL4 ACAP1 GPS2 CD68 CLDN7 CHRNB1 POLR2A TMEM102 PLSCR3 ACADVL SOX15 TNFSF12 FXR2 FGF11 YBX2 SLC16A11 SPEM1 C17orf49 CLEC10A GABARAP SNORD10 SHBG RNASEK-C17orf49
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	DVL2 GABARAP ELP5 CLDN7 DLG4 MIR324 CTDNEP1 ACADVL PHF23
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	GPS2 ASGR1 CLDN7 DLG4 CTDNEP1 ASGR2 EIF5A ACADVL PHF23 DVL2 YBX2 SLC2A4 GABARAP ELP5 MIR324 NEURL4
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	TMEM95 ASGR1 DLG4 CTDNEP1 TMEM256-PLSCR3 DVL2 TNK1 SLC2A4 NLGN2 KCTD11 TMEM256 ELP5 MIR324 NEURL4 C17orf74 ACAP1 GPS2 LOC107983988 CLDN7 CHRNB1 TMEM102 PLSCR3 EIF5A ACADVL PHF23 FGF11 YBX2 SPEM1 GABARAP
nsv457659	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	TMEM95 ASGR1 SLC16A13 CTDNEP1 SNORA48 DVL2 TNK1 SLC2A4 TNFSF12-TNFSF13 SENP3-EIF4A1 MIR497HG ELP5 SENP3 EIF4A1 RNASEK C17orf74 LOC107983988 SLC35G6 TNFSF13 EIF5A PHF23 BCL6B ZBTB4 LOC100996842 SNORA67 ALOX12-AS1 MIR497 SAT2 ALOX12 DLG4 TMEM256-PLSCR3 ASGR2 MPDU1 MIR195 ATP1B2 NLGN2 KCTD11 TMEM256 MIR324 NEURL4 ACAP1 GPS2 CD68 CLDN7 CHRNB1 POLR2A WRAP53 TMEM102 PLSCR3 ACADVL SOX15 TNFSF12 FXR2 FGF11 YBX2 SLC16A11 SPEM1 C17orf49 CLEC10A GABARAP SNORD10 SHBG TP53 RNASEK-C17orf49

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