Hs02750569_cn

• Gene Symbol: CPLX1
• Assay Reference Genome Location: Chr.4:785383 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPLX1	NM_006651.3	4	1714	NP_006642.1
	XM_011513391.1	3	1645	XP_011511693.1
	AB593095.1	4	1691
	AK126578.1	5	1586
	BC002471.2	4	1714	AAH02471.1

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	IDUA SLC26A1 GAK TMEM175 FGFRL1 DGKQ RNF212 CPLX1 LOC100129917
nsv520136	Chr.4:765921 - 787095 on Build GRCh38	Gain	PCGF3 CPLX1 LOC100129917
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	ATP5I PCGF3 MYL5 MFSD7 LOC101928521 GAK TMEM175 LOC107986211 CPLX1 LOC100129917 PDE6B
nsv818207	Chr.4:760156 - 827702 on Build GRCh38	Gain	PCGF3 LOC107986211 CPLX1 LOC100129917
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	ATP5I SLC26A1 LOC101928548 CTBP1-AS FGFRL1 CRIPAK CTBP1-AS2 MYL5 MFSD7 LOC101928521 TMED11P UVSSA LOC100129917 GAK DGKQ LOC105374344 RNF212 PDE6B NKX1-1 SPON2 IDUA PCGF3 MAEA LOC100130872 TMEM175 CTBP1 LOC107986211 CPLX1
nsv521402	Chr.4:777799 - 799975 on Build GRCh38	Loss	CPLX1 LOC100129917
nsv950325	Chr.4:620112 - 796912 on Build GRCh38	Deletion	ATP5I PCGF3 MYL5 MFSD7 LOC101928521 LOC107986211 CPLX1 LOC100129917 PDE6B
esv3599381	Chr.4:760588 - 838288 on Build GRCh38	Gain	PCGF3 LOC107986211 CPLX1 LOC100129917

More Information

• Set Membership: Intragenic, 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