Hs02696320_cn

• Gene Symbol: ATP23
• Assay Reference Genome Location: Chr.12:57957042 on build GRCh38
• Cytoband: 12q14.1

Target Gene Details

• Entrez Gene ID: 91419
• Gene Name: ATP23 metallopeptidase and ATP synthase assembly factor homolog
• Gene Aliases: KUB3, XRCC6BP1
• Location: Chr.12:57941504-57957269 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP23	NM_001320408.1	6	1131	NP_001307337.1
	NM_001320409.1	5	1045	NP_001307338.1
	NM_001320410.1	7	1262	NP_001307339.1
	NM_033276.3	6	1091	NP_150592.1
	XM_011538976.2	5	766	XP_011537278.1
	XM_017020206.1	6	881	XP_016875695.1
	AF078164.2	6	1021	AAD31085.1
	BC012776.2	6	933
	BC115381.1	6	932	AAI15382.1
	BC115382.1	6	931	AAI15383.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv559046	Chr.12:57768302 - 58084815 on Build GRCh38	Gain	TSFM LOC283387 ATP23 LOC105369783 METTL1 METTL21B MIR26A2 LOC100506844 CTDSP2 AVIL
nsv523853	Chr.12:57956848 - 57992939 on Build GRCh38	Gain	ATP23

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

double-strand break repair via nonhomologous end joining
protein phosphorylation
proteolysis

Function(s)

metalloendopeptidase activity
DNA-dependent protein kinase activity
metal ion binding