Hs05761292_cn

• Gene Symbol: VANGL1
• Assay Reference Genome Location: Chr.1:115667308 on build GRCh38
• Cytoband: 1p13.1

Target Gene Details

• Entrez Gene ID: 81839
• Gene Name: VANGL planar cell polarity protein 1
• Gene Aliases: KITENIN, LPP2, STB2, STBM2
• Location: Chr.1:115641953-115698224 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VANGL1	NM_001172411.1			NP_001165882.1
	NM_001172412.1			NP_001165883.1
	NM_138959.2			NP_620409.1
	AB057596.1			BAB86334.1
	AB075805.1			BAB86362.1
	AF481859.1			AAO61751.1
	BC032773.1			AAH32773.1
	BC065272.1			AAH65272.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831115	Chr.1:115661250 - 115851698 on Build GRCh38	Gain	VANGL1 CASQ2 NHLH2
nsv2509	Chr.1:115657644 - 115693403 on Build GRCh38	Deletion	VANGL1
esv27976	Chr.1:115592696 - 116135006 on Build GRCh38	Loss	VANGL1 LOC101928995 CASQ2 LOC101928977 MAB21L3 SLC22A15 NHLH2

More Information

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

Gene Ontology Categories:

Process(es)

multicellular organism development
Wnt signaling pathway, planar cell polarity pathway

Function(s)

protein binding