Hs00376404_cn

• Gene Symbol: RER1
• Assay Reference Genome Location: Chr.1:2400863 on build GRCh38
• Cytoband: 1p36.32

Target Gene Details

• Entrez Gene ID: 11079
• Gene Name: retention in endoplasmic reticulum sorting receptor 1
• Gene Aliases: -
• Location: Chr.1:2391314-2405444 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RER1	NM_007033.4			NP_008964.3
	XM_005244713.4			XP_005244770.2
	XM_006710306.2			XP_006710369.1
	XM_011540542.1			XP_011538844.1
	XM_011540543.1			XP_011538845.1
	XM_017000131.1			XP_016855620.1
	XM_017000132.1			XP_016855621.1
	XM_017000133.1			XP_016855622.1
	XM_017000134.1			XP_016855623.1
	XM_017000135.1			XP_016855624.1
	AF091071.1			AAC72940.1
	AF157324.1			AAF67490.1
	AJ001421.1			CAA04754.1
	AK095750.1
	AK289658.1
	BC004965.1			AAH04965.1
	BT007224.1			AAP35888.1
	CR456806.1			CAG33087.1
	DA409924.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951557	Chr.1:2266062 - 2564661 on Build GRCh38	Deletion	SKI PLCH2 TNFRSF14 HES5 LOC100129534 PANK4 MORN1 RER1 PEX10 LOC115110
nsv1003233	Chr.1:2348984 - 2404066 on Build GRCh38	Gain	LOC100129534 MORN1 RER1
nsv823697	Chr.1:2389693 - 2405919 on Build GRCh38	Gain	MORN1 RER1 PEX10
nsv470684	Chr.1:2394570 - 2930923 on Build GRCh38	Loss	TTC34 FAM213B LOC100996583 PLCH2 TNFRSF14 HES5 MMEL1 PANK4 RER1 PEX10 LOC115110
esv2631918	Chr.1:2400813 - 2401808 on Build GRCh38	Insertion	RER1

More Information

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

Gene Ontology Categories:

Process(es)

retrograde vesicle-mediated transport, Golgi to ER
skeletal muscle acetylcholine-gated channel clustering
positive regulation of establishment of protein localization to plasma membrane

Function(s)

molecular_function
acetylcholine receptor binding