Hs01687779_cn

• Gene Symbol: ATP5D
• Assay Reference Genome Location: Chr.19:1242466 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 513
• Gene Name: ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
• Gene Aliases: -
• Location: Chr.19:1241750-1244825 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP5D	NM_001001975.1			NP_001001975.1
	NM_001687.4			NP_001678.1
	AK094357.1	1	699
	BC002389.2			AAH02389.1
	BC004426.1			AAH04426.1
	BC018079.1			AAH18079.1
	CR542218.1			CAG47014.1
	S87916.1			AAA08055.1
	S87918.1			ABB76284.1
	X63422.1			CAA45016.1
	X63423.1			CAA45017.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058677	Chr.19:1054061 - 1283189 on Build GRCh38	Loss	LOC102725180 MIDN STK11 ATP5D ABCA7 CIRBP POLR2E EFNA2 CIRBP-AS1 C19orf24 CBARP ARHGAP45 GPX4 SBNO2
nsv578268	Chr.19:1221162 - 1250886 on Build GRCh38	Loss	MIDN STK11 ATP5D CBARP
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	LOC102725180 MIDN STK11 CNN2 ATP5D ABCA7 CIRBP POLR2E EFNA2 CIRBP-AS1 C19orf24 CBARP ARHGAP45 GPX4 SBNO2
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	LOC102725180 MIDN STK11 EFNA2 CIRBP-AS1 ATP5D C19orf24 CBARP CIRBP SBNO2
dgv6196n54	Chr.19:1222317 - 1245701 on Build GRCh38	Loss	STK11 ATP5D CBARP
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	MIDN STK11 EFNA2 CIRBP-AS1 ATP5D C19orf24 CBARP CIRBP
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	MIDN STK11 EFNA2 CIRBP-AS1 ATP5D C19orf24 CBARP CIRBP
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	LOC102725180 MIDN STK11 ATP5D CIRBP POLR2E EFNA2 CIRBP-AS1 C19orf24 CBARP ARHGAP45 GPX4 SBNO2
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	LOC102725180 MIDN R3HDM4 STK11 CNN2 RNU6-2 KISS1R ATP5D ARID3A ABCA7 CIRBP WDR18 LOC105372235 POLR2E EFNA2 CIRBP-AS1 TMEM259 C19orf24 CBARP ARHGAP45 GPX4 GRIN3B RNU6-9 SBNO2
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	R3HDM4 STK11 CNN2 RNU6-2 KISS1R ATP5D ARID3A ABCA7 WDR18 LOC105372235 POLR2E CBARP GRIN3B LOC102725180 MIDN CIRBP EFNA2 CIRBP-AS1 TMEM259 C19orf24 ARHGAP45 GPX4 MED16 RNU6-9 SBNO2
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	STK11 CNN2 RNU6-2 ATP5D ARID3A ABCA7 REEP6 WDR18 LOC105372235 POLR2E ADAMTSL5 NDUFS7 CBARP PLK5 GRIN3B RPS15 GAMT LOC102725180 MIDN C19orf25 DAZAP1 CIRBP PCSK4 EFNA2 CIRBP-AS1 TMEM259 C19orf24 MUM1 APC2 ARHGAP45 GPX4 SBNO2
nsv578272	Chr.19:1233682 - 1244776 on Build GRCh38	Loss	ATP5D CBARP
nsv828368	Chr.19:1223051 - 1274100 on Build GRCh38	Gain	MIDN STK11 CIRBP-AS1 ATP5D CBARP CIRBP

More Information

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

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

oxidative phosphorylation
ATP biosynthetic process
ATP synthesis coupled proton transport
mitochondrial ATP synthesis coupled proton transport
response to copper ion

Function(s)

transporter activity
ATP binding
ATPase activity
transmembrane transporter activity
ADP binding
proton-transporting ATP synthase activity, rotational mechanism
proton-transporting ATPase activity, rotational mechanism