Hs05175097_cn

• Gene Symbol: CUBN
• Assay Reference Genome Location: Chr.10:16843733 on build GRCh38
• Cytoband: 10p13

Target Gene Details

• Entrez Gene ID: 8029
• Gene Name: cubilin
• Gene Aliases: IFCR, MGA1, gp280
• Location: Chr.10:16823966-17130492 on Build GRCh38
• Assay Gene Location: Within Intron 64

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CUBN	NM_001081.3			NP_001072.2
	XM_011519709.2			XP_011518011.1
	XM_011519710.2			XP_011518012.1
	XM_011519711.2			XP_011518013.1
	AB209880.1			BAD93117.1
	AF034611.1			AAC82612.1
	AK074536.1
	AK075228.1
	AK309623.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891765	Chr.10:16809409 - 16977014 on Build GRCh38	Gain	RSU1 CUBN
nsv466758	Chr.10:16672467 - 16954685 on Build GRCh38	Gain	RSU1 CUBN
nsv831800	Chr.10:16765669 - 16949419 on Build GRCh38	Gain	RSU1 CUBN
nsv1046088	Chr.10:16786830 - 16906310 on Build GRCh38	Gain	RSU1 CUBN
esv3622477	Chr.10:16808207 - 16934688 on Build GRCh38	Gain	RSU1 CUBN

More Information

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

Gene Ontology Categories:

Process(es)

tissue homeostasis
receptor-mediated endocytosis
cholesterol metabolic process
cobalamin metabolic process
protein transport
cobalamin transport
lipoprotein metabolic process
vitamin D metabolic process
lipoprotein transport

Function(s)

receptor activity
transporter activity
calcium ion binding
protein binding
cobalamin binding
protein homodimerization activity