Hs02328464_cn

• Gene Symbol: VWCE
• Assay Reference Genome Location: Chr.11:61259103 on build GRCh38
• Cytoband: 11q12.2

Target Gene Details

• Entrez Gene ID: 220001
• Gene Name: von Willebrand factor C and EGF domains
• Gene Aliases: URG11, VWC1
• Location: Chr.11:61258286-61295316 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VWCE	NM_152718.2	20	2719	NP_689931.2
	XM_006718460.1	20	2695	XP_006718523.1
	XM_006718462.1	18	2539	XP_006718525.1
	XM_011544817.1	17	2425	XP_011543119.1
	XM_017017340.1	20	2656	XP_016872829.1
	XM_017017341.1	19	2590	XP_016872830.1
	XM_017017342.1	19	2312	XP_016872831.1
	XM_017017343.1	21	2503	XP_016872832.1
	AK056571.1	20	2477	BAB71219.1
	AK302241.1	9	958
	AY205235.1	18	2224	AAO47606.1
	BC142624.1	20	2466

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759831	Chr.11:61147888 - 61313185 on Build GRCh38	Gain+Loss	PGA3 PGA5 DDB1 VPS37C PGA4 VWCE
esv28446	Chr.11:61257988 - 61267462 on Build GRCh38	Loss	VWCE
nsv428259	Chr.11:61049513 - 61356164 on Build GRCh38	Gain+Loss	PGA3 TKFC PGA5 DDB1 VPS37C CD5 PGA4 CYB561A3 LOC105369325 VWCE
nsv341	Chr.11:61240546 - 61259664 on Build GRCh38	Insertion	PGA5 VWCE
esv3626577	Chr.11:61257434 - 61267693 on Build GRCh38	Loss	VWCE
nsv832177	Chr.11:61185118 - 61356164 on Build GRCh38	Loss	PGA3 TKFC PGA5 DDB1 PGA4 CYB561A3 VWCE

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

positive regulation of cell proliferation
regulation of signal transduction

Function(s)

calcium ion binding