Hs01893091_cn

• Gene Symbol: SYP
• Assay Reference Genome Location: Chr.X:49188151 on build GRCh38
• Cytoband: Xp11.23

Target Gene Details

• Entrez Gene ID: 6855
• Gene Name: synaptophysin
• Gene Aliases: MRX96, MRXSYP
• Location: Chr.X:49187812-49200202 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SYP	NM_003179.2	7	2094	NP_003170.1
	BC064550.1	7	2094	AAH64550.1
	BQ637168.1	1	178
	X06389.1	6	2027	CAA29686.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528292	Chr.X:48433286 - 49274368 on Build GRCh38	Gain	ERAS SLC35A2 PLP2 LOC101927635 RBM3 GLOD5 OTUD5 GPKOW PORCN TFE3 PRICKLE3 FTSJ1 SLC38A5 FOXP3 PCSK1N CACNA1F CCDC120 HDAC6 SYP-AS1 EBP PRAF2 SUV39H1 PQBP1 PPP1R3F WDR45 SYP GRIPAP1 TIMM17B PIM2 TBC1D25 MAGIX CCDC22 WAS KCND1 GATA1 WDR13
esv32909	Chr.X:48003374 - 49285646 on Build GRCh38	Gain+Loss	SPACA5B SSX4B ERAS SLC35A2 PLP2 LOC101927635 SSX6 RBM3 GLOD5 OTUD5 GPKOW ZNF182 PORCN TFE3 PRICKLE3 SSX5 SSX9 FTSJ1 SLC38A5 FOXP3 PCSK1N CACNA1F SSX4 CCDC120 HDAC6 SYP-AS1 EBP ZNF630 PRAF2 SUV39H1 PQBP1 SSX1 PPP1R3F SSX3 WDR45 SYP GRIPAP1 SPACA5 TIMM17B PIM2 TBC1D25 MAGIX CCDC22 WAS KCND1 GATA1 WDR13 ZNF630-AS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

endocytosis
synaptic vesicle maturation
regulation of neuronal synaptic plasticity
regulation of long-term neuronal synaptic plasticity
regulation of short-term neuronal synaptic plasticity
synaptic vesicle membrane organization
cellular response to organic substance
regulation of opioid receptor signaling pathway

Function(s)

transporter activity
cholesterol binding
SH2 domain binding
identical protein binding
protein self-association