Hs06474703_cn

• Gene Symbol: CCBE1
• Assay Reference Genome Location: Chr.18:59433425 on build GRCh38
• Cytoband: 18q21.32

Target Gene Details

• Entrez Gene ID: 147372
• Gene Name: collagen and calcium binding EGF domains 1
• Gene Aliases: HKLLS1
• Location: Chr.18:59430939-59698181 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCBE1	NM_133459.3	11	3774	NP_597716.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2717167	Chr.18:59430234 - 59433429 on Build GRCh38	Deletion	CCBE1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

lymphangiogenesis
sprouting angiogenesis
positive regulation of vascular endothelial growth factor production
positive regulation of endothelial cell migration
positive regulation of protein processing
positive regulation of angiogenesis
venous blood vessel morphogenesis
positive regulation of vascular endothelial growth factor signaling pathway
positive regulation of lymphangiogenesis

Function(s)

protease binding
calcium ion binding
protein binding
collagen binding