Hs01433786_cn

• Gene Symbol: VPS37A
• Assay Reference Genome Location: Chr.8:17280429 on build GRCh38
• Cytoband: 8p22

Target Gene Details

• Entrez Gene ID: 137492
• Gene Name: VPS37A, ESCRT-I subunit
• Gene Aliases: HCRP1, PQBP2, SPG53
• Location: Chr.8:17246892-17333532 on Build GRCh38
• Assay Gene Location: Overlaps Exon 10 - Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS37A	NM_001145152.1			NP_001138624.1
	NM_152415.2			NP_689628.2
	XM_005273400.2			XP_005273457.1
	XM_005273401.2			XP_005273458.1
	XM_006716286.1			XP_006716349.1
	XM_017013021.1			XP_016868510.1
	XM_017013022.1			XP_016868511.1
	XM_017013023.1			XP_016868512.1
	XM_017013024.1			XP_016868513.1
	XM_017013025.1			XP_016868514.1
	XM_017013026.1			XP_016868515.1
	AF547097.1
	AK057204.1			BAB71381.1
	AK124607.1
	AY033079.2			AAK54349.1
	BC022363.1			AAH22363.1
	BC067754.1			AAH67754.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831245	Chr.8:17255574 - 17450899 on Build GRCh38	Gain	MTMR7 VPS37A
nsv610675	Chr.8:17280178 - 17297923 on Build GRCh38	Loss	MTMR7 VPS37A

More Information

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

Gene Ontology Categories:

Process(es)

autophagy
protein transport
endosomal transport
viral life cycle
multivesicular body assembly
viral budding via host ESCRT complex
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
intracellular transport of virus

Function(s)

protein binding