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 MIR324 DLG4 DVL2
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	TMEM95 FGF11 MIR324 GABARAP NLGN2 ZBTB4 DVL2 SENP3-EIF4A1 C17orf74 TMEM256 TEKT1 ACADVL LOC100996842 C17orf49 CD68 RNASEK-C17orf49 YBX2 ALOX12-AS1 DLG4 ACAP1 FXR2 MIR497HG SLC16A11 ALOX12 ATP1B2 CLEC10A MIR497 CTDNEP1 TNK1 TMEM102 SAT2 PHF23 ASGR2 CHRNB1 SLC16A13 SOX15 GPS2 MIR195 MPDU1 BCL6B EIF4A1 CLDN7 KCTD11 SNORA67 SENP3 SLC35G6 SNORA48 TNFSF12-TNFSF13 SLC2A4 TMEM256-PLSCR3 FBXO39 LOC107983988 NEURL4 PLSCR3 ELP5 ALOX12P2 SHBG RNASEK POLR2A TNFSF12 SPEM1 TNFSF13 EIF5A ASGR1 SNORD10
esv3639861	Chr.17:7198042 - 7261345 on Build GRCh38	Loss	CLDN7 ACADVL MIR324 PHF23 GABARAP DLG4 CTDNEP1 ELP5 DVL2
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	TMEM95 FGF11 MIR324 PHF23 GABARAP CHRNB1 NLGN2 GPS2 DVL2 C17orf74 TMEM256 CLDN7 ACADVL KCTD11 SLC2A4 TMEM256-PLSCR3 YBX2 DLG4 LOC107983988 NEURL4 PLSCR3 ELP5 ACAP1 SPEM1 EIF5A CTDNEP1 TNK1 ASGR1 TMEM102
esv2665200	Chr.17:7091816 - 7333062 on Build GRCh38	Deletion	SLC2A4 YBX2 MIR324 PHF23 ASGR2 GABARAP DLG4 NEURL4 ELP5 GPS2 DVL2 CLDN7 ACADVL EIF5A CTDNEP1 ASGR1
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	TMEM95 FGF11 MIR324 GABARAP NLGN2 ZBTB4 DVL2 SENP3-EIF4A1 C17orf74 TMEM256 ACADVL LOC100996842 C17orf49 CD68 RNASEK-C17orf49 YBX2 ALOX12-AS1 DLG4 TP53 ACAP1 FXR2 MIR497HG SLC16A11 ALOX12 ATP1B2 CLEC10A MIR497 CTDNEP1 TNK1 TMEM102 SAT2 PHF23 ASGR2 CHRNB1 SLC16A13 SOX15 GPS2 MIR195 MPDU1 BCL6B EIF4A1 CLDN7 KCTD11 SNORA67 SENP3 SLC35G6 SNORA48 TNFSF12-TNFSF13 SLC2A4 TMEM256-PLSCR3 LOC107983988 NEURL4 PLSCR3 ELP5 SHBG RNASEK WRAP53 POLR2A TNFSF12 SPEM1 TNFSF13 EIF5A ASGR1 SNORD10

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