Hs05445204_cn

• Gene Symbol: VAC14
• Assay Reference Genome Location: Chr.16:70709168 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 55697
• Gene Name: Vac14, PIKFYVE complex component
• Gene Aliases: ArPIKfyve, TAX1BP2, TRX
• Location: Chr.16:70687439-70801169 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VAC14	NM_018052.3			NP_060522.3
	XM_005256038.3			XP_005256095.1
	XM_017023441.1	15	5931	XP_016878930.1
	XM_017023442.1	16	5796	XP_016878931.1
	AK001167.1			BAA91530.1
	AK025479.1			BAB15145.1
	AK056433.1
	AK297564.1
	AK307766.1
	AK310466.1
	BC000536.2			AAH00536.2
	BC007214.1			AAH07214.2
	BC125108.1
	BC125109.1
	CR457343.1			CAG33624.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892881	Chr.16:70379334 - 70791080 on Build GRCh38	Gain	IL34 FUK VAC14 ST3GAL2 MTSS1L SNORD111B SNORD111 COG4 SF3B3 VAC14-AS1
nsv517391	Chr.16:70632507 - 70806587 on Build GRCh38	Loss	IL34 HYDIN VAC14 MTSS1L VAC14-AS1
nsv1059226	Chr.16:70674795 - 70745241 on Build GRCh38	Gain	VAC14 MTSS1L
nsv572945	Chr.16:70632819 - 70806587 on Build GRCh38	Gain	IL34 HYDIN VAC14 MTSS1L VAC14-AS1
nsv471094	Chr.16:70660097 - 70716067 on Build GRCh38	Loss	IL34 VAC14 MTSS1L

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

phosphatidylinositol biosynthetic process
signal transduction
viral process
regulation of lipid kinase activity

Function(s)

receptor activity
protein binding