Hs03540478_cn

• Gene Symbol: CPLX1
• Assay Reference Genome Location: Chr.4:788820 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 10815
• Gene Name: complexin 1
• Gene Aliases: CPX-I, CPX1
• Location: Chr.4:784957-826157 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPLX1	NM_006651.3			NP_006642.1
	XM_011513391.1			XP_011511693.1
	AB593095.1
	AF022383.1			AAB72108.1
	AK126578.1
	AK311921.1
	BC002471.2			AAH02471.1
	BT007029.1			AAP35676.1
	KJ534815.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	RNF212 SLC26A1 GAK FGFRL1 DGKQ TMEM175 IDUA LOC100129917 CPLX1
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	MFSD7 PCGF3 MYL5 GAK TMEM175 LOC101928521 LOC100129917 CPLX1 PDE6B ATP5I LOC107986211
nsv10419	Chr.4:788528 - 795026 on Build GRCh38	Loss	CPLX1
nsv818207	Chr.4:760156 - 827702 on Build GRCh38	Gain	PCGF3 LOC100129917 CPLX1 LOC107986211
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	RNF212 CTBP1-AS LOC101928521 IDUA LOC105374344 LOC100129917 CPLX1 PDE6B SLC26A1 CTBP1 FGFRL1 MAEA TMEM175 NKX1-1 UVSSA MYL5 GAK LOC100130872 LOC101928548 TMED11P SPON2 CTBP1-AS2 MFSD7 PCGF3 CRIPAK DGKQ ATP5I LOC107986211
nsv521402	Chr.4:777799 - 799975 on Build GRCh38	Loss	LOC100129917 CPLX1
nsv950325	Chr.4:620112 - 796912 on Build GRCh38	Deletion	MFSD7 PCGF3 MYL5 LOC101928521 LOC100129917 CPLX1 PDE6B ATP5I LOC107986211
esv3599381	Chr.4:760588 - 838288 on Build GRCh38	Gain	PCGF3 LOC100129917 CPLX1 LOC107986211

More Information

Additional Information:

For this assay, SNP(s) [rs77934126] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

exocytosis
chemical synaptic transmission
neurotransmitter secretion
glutamate secretion
synaptic vesicle exocytosis
regulation of exocytosis
insulin secretion

Function(s)

neurotransmitter transporter activity
syntaxin-1 binding