Hs01874626_cn

• Gene Symbol: ATP5I
• Assay Reference Genome Location: Chr.4:674226 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 521
• Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit E
• Gene Aliases: ATP5K
• Location: Chr.4:672436-674338 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP5I	NM_007100.3			NP_009031.1
	NR_033743.1
	AB028624.1			BAA78778.1
	AK000656.1
	BC003679.1			AAH03679.1
	BC105610.1
	BF215596.1
	BG940181.1
	BT006922.1			AAP35568.1
	D50371.1			BAA23322.1
	DA119852.1

Target Gene Details

• Entrez Gene ID: 4636
• Gene Name: myosin light chain 5
• Gene Aliases: -
• Location: Chr.4:674199-682033 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYL5	XM_006713886.2			XP_006713949.1
	AK123974.1	1	647

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759217	Chr.4:609419 - 937566 on Build GRCh38	Loss	CPLX1 MFSD7 ATP5I LOC101928521 PCGF3 LOC100129917 GAK TMEM175 LOC107986211 PDE6B MYL5
nsv593206	Chr.4:632173 - 741362 on Build GRCh38	Loss	MFSD7 ATP5I LOC101928521 PCGF3 PDE6B MYL5
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	CPLX1 ATP5I DGKQ TMED11P SPON2 LOC101928521 PCGF3 GAK UVSSA LOC100130872 LOC101928548 NKX1-1 MFSD7 IDUA CTBP1-AS LOC100129917 SLC26A1 TMEM175 MAEA CTBP1 CRIPAK LOC105374344 CTBP1-AS2 LOC107986211 PDE6B FGFRL1 RNF212 MYL5
nsv950325	Chr.4:620112 - 796912 on Build GRCh38	Deletion	CPLX1 MFSD7 ATP5I LOC101928521 PCGF3 LOC100129917 LOC107986211 PDE6B MYL5
nsv829834	Chr.4:671688 - 781736 on Build GRCh38	Loss	MFSD7 ATP5I PCGF3 LOC100129917 LOC107986211 MYL5
nsv593208	Chr.4:674211 - 688444 on Build GRCh38	Loss	MFSD7 ATP5I MYL5
nsv508986	Chr.4:527899 - 756994 on Build GRCh38	Insertion	MFSD7 ATP5I LOC101928521 PCGF3 PIGG LOC107986211 PDE6B MYL5
nsv10413	Chr.4:673415 - 690512 on Build GRCh38	Gain	MFSD7 ATP5I MYL5

More Information

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

Panther Classification:

Molecular Function -

ATP synthase, actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

ATP biosynthetic process
mitochondrial ATP synthesis coupled proton transport
muscle contraction
regulation of muscle contraction

Function(s)

hydrogen ion transmembrane transporter activity
ATPase activity
transmembrane transporter activity
calcium ion binding
structural constituent of muscle