Hs03520597_cn

• Gene Symbol: CPLX1
• Assay Reference Genome Location: Chr.4:808898 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPLX1	NM_006651.3			NP_006642.1
	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
esv3569241	Chr.4:808277 - 836485 on Build GRCh38	Loss	CPLX1
nsv1003219	Chr.4:776106 - 1111676 on Build GRCh38	Gain	RNF212 DGKQ LOC100129917 CPLX1 IDUA FGFRL1 GAK SLC26A1 TMEM175
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	PDE6B ATP5I LOC100129917 CPLX1 MYL5 LOC101928521 PCGF3 GAK LOC107986211 MFSD7 TMEM175
nsv593223	Chr.4:804723 - 871439 on Build GRCh38	Loss	CPLX1 GAK
nsv818207	Chr.4:760156 - 827702 on Build GRCh38	Gain	LOC100129917 CPLX1 PCGF3 LOC107986211
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	CTBP1-AS CRIPAK LOC101928521 IDUA FGFRL1 TMED11P ATP5I SPON2 NKX1-1 PCGF3 GAK RNF212 MYL5 LOC101928548 LOC105374344 CTBP1-AS2 MFSD7 TMEM175 MAEA PDE6B DGKQ LOC100129917 CPLX1 LOC107986211 LOC100130872 SLC26A1 CTBP1 UVSSA
esv3599381	Chr.4:760588 - 838288 on Build GRCh38	Gain	LOC100129917 CPLX1 PCGF3 LOC107986211

More Information

• 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