Hs05513497_cn

• Gene Symbol: ERN1
• Assay Reference Genome Location: Chr.17:64040115 on build GRCh38
• Cytoband: 17q23.3

Target Gene Details

• Entrez Gene ID: 2081
• Gene Name: endoplasmic reticulum to nucleus signaling 1
• Gene Aliases: IRE1, IRE1P, IRE1a, hIRE1p
• Location: Chr.17:64039142-64130819 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERN1	XM_017024347.1	22	8274	XP_016879836.1
	AK124426.1	1	1729

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833511	Chr.17:63865995 - 64064305 on Build GRCh38	Loss	GH1 LOC107987248 CSHL1 CD79B PRR29 SCN4A GH2 PRR29-AS1 ICAM2 CSH2 ERN1 CSH1

More Information

Additional Information:

For this assay, SNP(s) [rs115452605] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

endoribonuclease

Gene Ontology Categories:

Process(es)

endothelial cell proliferation
transcription, DNA-templated
regulation of transcription, DNA-templated
mRNA cleavage
mRNA catabolic process
protein phosphorylation
activation of signaling protein activity involved in unfolded protein response
cell cycle arrest
activation of JUN kinase activity
regulation of macroautophagy
positive regulation of RNA splicing
response to endoplasmic reticulum stress
cellular response to vascular endothelial growth factor stimulus
peptidyl-serine autophosphorylation
IRE1-mediated unfolded protein response
protein autophosphorylation
mRNA splicing, via endonucleolytic cleavage and ligation
mRNA endonucleolytic cleavage involved in unfolded protein response
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
cellular response to glucose stimulus
RNA phosphodiester bond hydrolysis, endonucleolytic
positive regulation of endoplasmic reticulum unfolded protein response
insulin metabolic process
peptidyl-serine trans-autophosphorylation

Function(s)

magnesium ion binding
endoribonuclease activity
protein serine/threonine kinase activity
protein binding
ATP binding
enzyme binding
Hsp70 protein binding
identical protein binding
protein homodimerization activity
ADP binding
Hsp90 protein binding