Hs01146042_cn

• Gene Symbol: RAPSN
• Assay Reference Genome Location: Chr.11:47438789 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 Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAPSN	NM_005055.4	7	1323	NP_005046.2
	NM_032645.4	5	1146	NP_116034.2
	XM_005253042.3	6	1227	XP_005253099.1
	XM_005253043.3	6	1158	XP_005253100.1
	XM_011520252.1	7	1366	XP_011518554.1
	AF449218.1	7	1323	AAL86639.1
	AK310002.1	5	1104
	BC004196.2	5	1111	AAH04196.1
	KU178300.1	5	932
	KU178301.1	7	1245
	KU178302.1	7	1109
	KU178303.1	6	1055
	KU178304.1	6	986
	Z33905.1	7	1316	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	SPI1 MIR4487 CELF1 PSMC3 MADD RAPSN SLC39A13 MYBPC3

More Information

• Set Membership: Intragenic, 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