Hs04078283_cn

• Gene Symbol: ATP6V1E1
• Assay Reference Genome Location: Chr.22:17617175 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 529
• Gene Name: ATPase H+ transporting V1 subunit E1
• Gene Aliases: ATP6E, ATP6E2, ATP6V1E, P31, Vma4
• Location: Chr.22:17592136-17628822 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1E1	NM_001039366.1			NP_001034455.1
	NM_001039367.1			NP_001034456.1
	NM_001696.3			NP_001687.1
	AK294623.1
	AK312394.1
	AK315941.1
	BC004443.1			AAH04443.1
	BE735148.1
	BI546032.1
	BI597419.1
	BQ888820.1
	BT007128.1			AAP35792.1
	CK005516.1
	CR456385.1			CAG30271.1
	X71491.1			CAA50592.1
	X76228.1			CAA53814.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9871	Chr.22:17545048 - 17683541 on Build GRCh38	Loss	BCL2L13 SLC25A18 LOC101929372 ATP6V1E1 CECR2
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	BCL2L13 LINC00528 BID MICAL3 SLC25A18 LOC101929372 ATP6V1E1 MIR3198-1 CECR2
nsv1065055	Chr.22:17559085 - 17632626 on Build GRCh38	Gain	BCL2L13 SLC25A18 LOC101929372 ATP6V1E1
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	BCL2L13 LINC00528 BID MICAL3 SLC25A18 LOC101929372 ATP6V1E1 MIR648 MIR3198-1 FLJ41941
esv3893429	Chr.22:17600825 - 17678777 on Build GRCh38	Gain	BCL2L13 ATP6V1E1
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	BCL2L13 SLC25A18 LOC101929372 ATP6V1E1
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	LOC642643 ATP6V1E1 RIMBP3 TUBA8 USP18 MIR3198-1 CECR2 GGT3P BCL2L13 PI4KAP1 SLC25A18 FLJ41941 LOC100996415 LINC00528 BID LOC100996432 LOC729461 FAM230A MICAL3 LOC101929372 PEX26 MIR648 LOC100996401 TMEM191B LOC102725072
esv2272803	Chr.22:17616648 - 17617272 on Build GRCh38	Deletion	ATP6V1E1

More Information

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

Gene Ontology Categories:

Process(es)

insulin receptor signaling pathway
ATP hydrolysis coupled proton transport
proton transport
regulation of macroautophagy
transferrin transport
ion transmembrane transport
phagosome acidification

Function(s)

protein binding
hydrogen-exporting ATPase activity, phosphorylative mechanism
proton-transporting ATPase activity, rotational mechanism
ATPase binding