Hs04087306_cn

• Gene Symbol: ATP6V1E1
• Assay Reference Genome Location: Chr.22:17593594 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 8

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
	AI565049.1
	AK294623.1
	AK312394.1
	AK315941.1
	AW406069.1
	BC004443.1			AAH04443.1
	BI546032.1
	BQ888820.1
	BT007128.1			AAP35792.1
	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	LOC101929372 CECR2 BCL2L13 SLC25A18 ATP6V1E1
dgv4464n100	Chr.22:17570790 - 17611340 on Build GRCh38	Gain	LOC101929372 SLC25A18 ATP6V1E1
nsv1065055	Chr.22:17559085 - 17632626 on Build GRCh38	Gain	LOC101929372 BCL2L13 SLC25A18 ATP6V1E1
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	LOC101929372 BID MIR3198-1 LINC00528 CECR2 MICAL3 BCL2L13 SLC25A18 ATP6V1E1
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	LOC101929372 BID MIR3198-1 LINC00528 MICAL3 BCL2L13 MIR648 FLJ41941 SLC25A18 ATP6V1E1
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	LOC101929372 BCL2L13 SLC25A18 ATP6V1E1
esv3568229	Chr.22:17574659 - 17596669 on Build GRCh38	Loss	LOC101929372 SLC25A18 ATP6V1E1
nsv3553	Chr.22:17553601 - 17608096 on Build GRCh38	Deletion	LOC101929372 CECR2 SLC25A18 ATP6V1E1
nsv510802	Chr.22:17550100 - 17604891 on Build GRCh38	Deletion	LOC101929372 CECR2 SLC25A18 ATP6V1E1
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	LOC100996432 LOC100996415 MIR3198-1 MICAL3 GGT3P BCL2L13 PI4KAP1 RIMBP3 LOC642643 LOC729461 LOC101929372 BID LINC00528 CECR2 PEX26 SLC25A18 FAM230A TUBA8 LOC100996401 USP18 FLJ41941 ATP6V1E1 LOC102725072 MIR648 TMEM191B
dgv1278e212	Chr.22:17586154 - 17598370 on Build GRCh38	Loss	LOC101929372 SLC25A18 ATP6V1E1

More Information

Additional Information:

For this assay, SNP(s) [rs77996220] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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