Hs03525243_cn

• Gene Symbol: CPLX1
• Assay Reference Genome Location: Chr.4:804908 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: Overlaps Intron 2 - Exon 3

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	GAK TMEM175 DGKQ CPLX1 LOC100129917 SLC26A1 FGFRL1 RNF212 IDUA
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	GAK TMEM175 PDE6B LOC101928521 CPLX1 LOC107986211 MFSD7 MYL5 PCGF3 LOC100129917 ATP5I
nsv593223	Chr.4:804723 - 871439 on Build GRCh38	Loss	GAK CPLX1
nsv818207	Chr.4:760156 - 827702 on Build GRCh38	Gain	CPLX1 LOC107986211 PCGF3 LOC100129917
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	UVSSA GAK DGKQ TMED11P LOC101928548 NKX1-1 FGFRL1 IDUA TMEM175 LOC101928521 LOC107986211 MFSD7 LOC100129917 LOC100130872 PDE6B MAEA MYL5 PCGF3 CTBP1 ATP5I SPON2 CTBP1-AS2 CRIPAK CPLX1 CTBP1-AS SLC26A1 LOC105374344 RNF212
esv3599381	Chr.4:760588 - 838288 on Build GRCh38	Gain	CPLX1 LOC107986211 PCGF3 LOC100129917

More Information

• Set Membership: Intragenic, 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