Hs01792658_cn

• Gene Symbol: VAC14
• Assay Reference Genome Location: Chr.16:70688029 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 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VAC14	NM_018052.3	19	2506	NP_060522.3
	XM_005256038.3	19	6476	XP_005256095.1
	AK001167.1	9	965	BAA91530.1
	AK025479.1	13	1539	BAB15145.1
	AK056433.1	19	2516
	AK090627.1	1	1698
	AK093941.1	6	1485
	AK128439.1	1	3021
	AK297564.1	19	2291
	AK307766.1	18	2356
	AL137396.1	3	297	CAB70724.1
	BC000536.2	9	970	AAH00536.2
	BC007214.1	14	1628	AAH07214.2
	BC125108.1	19	2438
	BC125109.1	19	2438
	CR457343.1	13	1474	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
esv3892881	Chr.16:70379334 - 70791080 on Build GRCh38	Gain	COG4 SNORD111 IL34 VAC14-AS1 SNORD111B SF3B3 FUK MTSS1L ST3GAL2 VAC14
nsv517391	Chr.16:70632507 - 70806587 on Build GRCh38	Loss	IL34 VAC14-AS1 MTSS1L HYDIN VAC14
nsv1059226	Chr.16:70674795 - 70745241 on Build GRCh38	Gain	MTSS1L VAC14
nsv572945	Chr.16:70632819 - 70806587 on Build GRCh38	Gain	IL34 VAC14-AS1 MTSS1L HYDIN VAC14
nsv572946	Chr.16:70660097 - 70706804 on Build GRCh38	Loss	IL34 MTSS1L VAC14

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