Hs05371916_cn

• Gene Symbol: FURIN
• Assay Reference Genome Location: Chr.15:90872468 on build GRCh38
• Cytoband: 15q26.1

Target Gene Details

• Entrez Gene ID: 5045
• Gene Name: furin, paired basic amino acid cleaving enzyme
• Gene Aliases: FUR, PACE, PCSK3, SPC1
• Location: Chr.15:90868592-90883458 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FURIN	NM_001289823.1			NP_001276752.1
	NM_002569.3			NP_002560.1
	AL555508.3
	BP283962.1
	X17094.1			CAA34948.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4711n54	Chr.15:90871778 - 90873375 on Build GRCh38	Loss	FURIN
nsv570405	Chr.15:90871209 - 90875361 on Build GRCh38	Gain	FURIN
nsv515661	Chr.15:90866779 - 90981967 on Build GRCh38	Loss	HDDC3 FES FURIN UNC45A PRC1-AS1 MAN2A2 PRC1 RCCD1
esv22296	Chr.15:90871004 - 90872438 on Build GRCh38	Loss	FURIN
nsv833089	Chr.15:90859910 - 90962961 on Build GRCh38	Loss	HDDC3 FES FURIN UNC45A MAN2A2 RCCD1

More Information

Additional Information:

For this assay, SNP(s) [rs74037506] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

signal peptide processing
transforming growth factor beta receptor signaling pathway
aging
cell proliferation
negative regulation of endopeptidase activity
protein processing
peptide hormone processing
viral life cycle
viral protein processing
extracellular matrix disassembly
extracellular matrix organization
positive regulation of cell migration
positive regulation of transforming growth factor beta receptor signaling pathway
collagen catabolic process
nerve growth factor processing
negative regulation of low-density lipoprotein particle receptor catabolic process
nerve growth factor production
negative regulation of nerve growth factor production
negative regulation of transforming growth factor beta1 production
secretion by cell
regulation of protein catabolic process
peptide biosynthetic process
cellular protein metabolic process
regulation of low-density lipoprotein particle receptor biosynthetic process
positive regulation of membrane protein ectodomain proteolysis
regulation of endopeptidase activity

Function(s)

protease binding
endopeptidase activity
serine-type endopeptidase activity
serine-type endopeptidase inhibitor activity
protein binding
peptidase activity
peptide binding
metal ion binding
nerve growth factor binding