Hs04362990_cn

• Gene Symbol: ATP6V1G1
• Assay Reference Genome Location: Chr.9:114596561 on build GRCh38
• Cytoband: 9q32

Target Gene Details

• Entrez Gene ID: 9550
• Gene Name: ATPase H+ transporting V1 subunit G1
• Gene Aliases: ATP6G, ATP6G1, ATP6GL, ATP6J, Vma10
• Location: Chr.9:114587714-114598872 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP6V1G1	NM_004888.3			NP_004879.1
	AF038954.1			AAC39868.1
	BC008452.1			AAH08452.1
	BI596632.1
	CR456971.1			CAG33252.1
	CR542237.1			CAG47033.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv948n27	Chr.9:114193988 - 114693895 on Build GRCh38	Gain	COL27A1 ATP6V1G1 AKNA MIR455 LOC100505478 ORM1 WHRN TMEM268 ORM2
nsv831694	Chr.9:114566360 - 114740505 on Build GRCh38	Gain	ATP6V1G1 LOC100505478 TMEM268
dgv7706n100	Chr.9:114182745 - 114697870 on Build GRCh38	Gain	COL27A1 ATP6V1G1 AKNA MIR455 LOC100505478 ORM1 WHRN TMEM268 ORM2
esv3621561	Chr.9:114594874 - 114597099 on Build GRCh38	Loss	ATP6V1G1
dgv33e196	Chr.9:114030664 - 114604363 on Build GRCh38	Duplication	COL27A1 ATP6V1G1 ZNF618 KIF12 AKNA MIR455 AMBP ORM1 WHRN TMEM268 ORM2

More Information

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

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

insulin receptor signaling pathway
regulation of macroautophagy
transferrin transport
ion transmembrane transport
phagosome acidification
hydrogen ion transmembrane transport

Function(s)

protein binding
hydrogen-exporting ATPase activity, phosphorylative mechanism
ATPase binding