Hs02412098_cn

• Gene Symbol: ACADVL
• Assay Reference Genome Location: Chr.17:7219581 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	470	NP_001308003.1
	NM_001365.4	1	470	NP_001356.1
	NR_135527.1	1	470
	XM_011523698.1	1	268	XP_011522000.1
	XM_011523699.2			XP_011522001.1
	AK296357.1	1	158
	BC136553.1
	DB064366.1	1	256
	U83192.1	1	130	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	ACADVL DVL2 MIR324 DLG4
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	ACADVL PHF23 MIR324 TNFSF12 LOC100996842 ASGR1 ELP5 TMEM95 C17orf49 CLDN7 MIR195 TMEM256-PLSCR3 POLR2A MIR497 SAT2 TNFSF13 ASGR2 SENP3 ACAP1 RNASEK-C17orf49 DLG4 NEURL4 EIF4A1 ALOX12-AS1 SNORA67 SLC16A11 RNASEK MPDU1 GABARAP CD68 LOC107983988 FXR2 SPEM1 NLGN2 SLC16A13 CLEC10A SHBG TNFSF12-TNFSF13 TEKT1 CHRNB1 SOX15 SENP3-EIF4A1 SNORA48 TNK1 CTDNEP1 ZBTB4 EIF5A BCL6B YBX2 ATP1B2 TMEM256 C17orf74 GPS2 PLSCR3 ALOX12 FBXO39 SLC35G6 ALOX12P2 DVL2 FGF11 TMEM102 MIR497HG SNORD10 SLC2A4 KCTD11
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	ACADVL DVL2 PHF23 MIR324 GABARAP CTDNEP1 DLG4 ELP5 CLDN7
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	ACADVL GPS2 PHF23 MIR324 ASGR1 GABARAP CTDNEP1 ELP5 CLDN7 EIF5A YBX2 DVL2 ASGR2 SLC2A4 DLG4 NEURL4
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	ACADVL PHF23 MIR324 ASGR1 CTDNEP1 ELP5 TMEM95 CLDN7 EIF5A TMEM256-PLSCR3 YBX2 ACAP1 DLG4 TMEM256 NEURL4 C17orf74 GPS2 PLSCR3 GABARAP LOC107983988 SPEM1 NLGN2 DVL2 FGF11 TMEM102 CHRNB1 SLC2A4 KCTD11 TNK1
nsv457659	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	ACADVL PHF23 MIR324 TNFSF12 LOC100996842 ASGR1 ELP5 TMEM95 C17orf49 CLDN7 MIR195 TMEM256-PLSCR3 POLR2A MIR497 SAT2 TNFSF13 ASGR2 SENP3 ACAP1 RNASEK-C17orf49 DLG4 NEURL4 EIF4A1 ALOX12-AS1 SNORA67 SLC16A11 RNASEK MPDU1 TP53 GABARAP CD68 LOC107983988 FXR2 SPEM1 NLGN2 SLC16A13 CLEC10A SHBG TNFSF12-TNFSF13 CHRNB1 SOX15 SENP3-EIF4A1 SNORA48 TNK1 CTDNEP1 ZBTB4 WRAP53 EIF5A BCL6B YBX2 ATP1B2 TMEM256 C17orf74 GPS2 PLSCR3 ALOX12 SLC35G6 DVL2 FGF11 TMEM102 MIR497HG SNORD10 SLC2A4 KCTD11

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