Hs06299710_cn

• Gene Symbol: RAPSN
• Assay Reference Genome Location: Chr.11:47443220 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 5913
• Gene Name: receptor associated protein of the synapse
• Gene Aliases: CMS11, CMS4C, FADS, RAPSYN, RNF205
• Location: Chr.11:47437757-47449178 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAPSN	NM_005055.4			NP_005046.2
	NM_032645.4			NP_116034.2
	XM_005253042.3			XP_005253099.1
	XM_005253043.3			XP_005253100.1
	XM_011520252.1			XP_011518554.1
	AF449218.1			AAL86639.1
	AK310002.1
	BC004196.2			AAH04196.1
	KU178300.1
	KU178301.1
	KU178302.1
	KU178303.1
	KU178304.1
	Z33905.1			CAA83954.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832141	Chr.11:47311629 - 47499441 on Build GRCh38	Loss	MADD MYBPC3 SLC39A13 CELF1 SPI1 MIR4487 RAPSN PSMC3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

chemical synaptic transmission
synaptic transmission, cholinergic
positive regulation of neuron apoptotic process
skeletal muscle acetylcholine-gated channel clustering
positive regulation of neuromuscular synaptic transmission
regulation of postsynaptic membrane organization

Function(s)

zinc ion binding
acetylcholine receptor binding
ionotropic glutamate receptor binding
protein anchor