Hs02130443_cn

• Gene Symbol: CPLX1
• Assay Reference Genome Location: Chr.4:785948 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	1149	NP_006642.1
	XM_011513391.1	3	1080	XP_011511693.1
	AB593095.1	4	1126
	AK126578.1	5	1021
	BC002471.2	4	1149	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	GAK FGFRL1 CPLX1 IDUA DGKQ SLC26A1 LOC100129917 RNF212 TMEM175
nsv520136	Chr.4:765921 - 787095 on Build GRCh38	Gain	CPLX1 LOC100129917 PCGF3
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	GAK CPLX1 MFSD7 LOC107986211 LOC100129917 MYL5 PCGF3 PDE6B LOC101928521 ATP5I TMEM175
nsv818207	Chr.4:760156 - 827702 on Build GRCh38	Gain	CPLX1 LOC107986211 LOC100129917 PCGF3
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	CTBP1-AS GAK CRIPAK IDUA DGKQ LOC107986211 SLC26A1 LOC100129917 LOC100130872 MYL5 LOC105374344 CPLX1 CTBP1 TMED11P SPON2 PCGF3 PDE6B LOC101928521 ATP5I TMEM175 MAEA UVSSA FGFRL1 MFSD7 RNF212 LOC101928548 CTBP1-AS2 NKX1-1
nsv521402	Chr.4:777799 - 799975 on Build GRCh38	Loss	CPLX1 LOC100129917
nsv950325	Chr.4:620112 - 796912 on Build GRCh38	Deletion	CPLX1 MFSD7 LOC107986211 LOC100129917 MYL5 PCGF3 PDE6B LOC101928521 ATP5I
esv3599381	Chr.4:760588 - 838288 on Build GRCh38	Gain	CPLX1 LOC107986211 LOC100129917 PCGF3

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