Hs05423194_cn

• Gene Symbol: VAC14
• Assay Reference Genome Location: Chr.16:70694283 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 Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VAC14	NM_018052.3			NP_060522.3
	XM_005256038.3			XP_005256095.1
	AK001167.1			BAA91530.1
	AK025479.1			BAB15145.1
	AK056433.1
	AK093941.1
	AK297564.1
	AK307766.1
	AL137396.1			CAB70724.1
	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
nsv572947	Chr.16:70680531 - 70697967 on Build GRCh38	Loss	MTSS1L VAC14
nsv572948	Chr.16:70690529 - 70697967 on Build GRCh38	Loss	VAC14
esv3892881	Chr.16:70379334 - 70791080 on Build GRCh38	Gain	FUK SF3B3 SNORD111 MTSS1L IL34 COG4 VAC14-AS1 SNORD111B VAC14 ST3GAL2
nsv517391	Chr.16:70632507 - 70806587 on Build GRCh38	Loss	MTSS1L IL34 VAC14-AS1 HYDIN VAC14
nsv1059226	Chr.16:70674795 - 70745241 on Build GRCh38	Gain	MTSS1L VAC14
nsv572945	Chr.16:70632819 - 70806587 on Build GRCh38	Gain	MTSS1L IL34 VAC14-AS1 HYDIN VAC14
nsv572946	Chr.16:70660097 - 70706804 on Build GRCh38	Loss	MTSS1L IL34 VAC14

More Information

• Set Membership: Intragenic, Intronic, Non-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