Hs02638180_cn

• Gene Symbol: ATPAF1
• Assay Reference Genome Location: Chr.1:46635466 on build GRCh38
• Cytoband: 1p33

Target Gene Details

• Entrez Gene ID: 64756
• Gene Name: ATP synthase mitochondrial F1 complex assembly factor 1
• Gene Aliases: ATP11, ATP11p
• Location: Chr.1:46635039-46668427 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATPAF1	NM_001042546.2	7	1198	NP_001036011.2
	NM_001243728.1	9	1263	NP_001230657.1
	NM_001256418.1	10	1354	NP_001243347.1
	NM_022745.4	9	1402	NP_073582.3
	AI188403.1	1	433
	AK026004.1	9	1339	BAB15316.1
	AK296360.1	1	835
	AK301874.1	10	1331
	AK311271.1	3	606
	BC008498.1	9	1333	AAH08498.1
	BC018781.1	9	1331	AAH18781.1
	BC071731.1	9	1331	AAH71731.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1007280	Chr.1:46622444 - 46663916 on Build GRCh38	Gain	ATPAF1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

mitochondrial proton-transporting ATP synthase complex assembly

Function(s)

protein binding