Hs04021652_cn

• Gene Symbol: ATP5D
• Assay Reference Genome Location: Chr.19:1243193 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: Within Intron 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	1426
	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 C19orf24 STK11 POLR2E CBARP MIDN ABCA7 GPX4 ARHGAP45 EFNA2 CIRBP SBNO2 CIRBP-AS1 ATP5D
nsv578268	Chr.19:1221162 - 1250886 on Build GRCh38	Loss	STK11 CBARP MIDN ATP5D
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	LOC102725180 C19orf24 STK11 POLR2E CBARP MIDN ABCA7 GPX4 ARHGAP45 EFNA2 CNN2 CIRBP SBNO2 CIRBP-AS1 ATP5D
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	LOC102725180 C19orf24 EFNA2 STK11 CBARP MIDN CIRBP SBNO2 CIRBP-AS1 ATP5D
dgv6196n54	Chr.19:1222317 - 1245701 on Build GRCh38	Loss	STK11 CBARP ATP5D
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	C19orf24 EFNA2 STK11 CBARP MIDN CIRBP CIRBP-AS1 ATP5D
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	C19orf24 EFNA2 STK11 CBARP MIDN CIRBP CIRBP-AS1 ATP5D
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	LOC102725180 C19orf24 STK11 POLR2E CBARP MIDN GPX4 ARHGAP45 EFNA2 CIRBP SBNO2 CIRBP-AS1 ATP5D
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	LOC102725180 C19orf24 RNU6-9 GRIN3B STK11 POLR2E RNU6-2 WDR18 CBARP MIDN ABCA7 GPX4 ARID3A KISS1R ARHGAP45 EFNA2 CNN2 LOC105372235 CIRBP SBNO2 TMEM259 R3HDM4 CIRBP-AS1 ATP5D
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	C19orf24 RNU6-9 POLR2E CBARP CNN2 LOC105372235 SBNO2 R3HDM4 LOC102725180 GRIN3B STK11 RNU6-2 WDR18 MIDN ABCA7 GPX4 ARID3A KISS1R ARHGAP45 EFNA2 MED16 CIRBP TMEM259 CIRBP-AS1 ATP5D
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	C19orf24 POLR2E ADAMTSL5 CBARP PCSK4 RPS15 DAZAP1 MUM1 CNN2 LOC105372235 SBNO2 GAMT C19orf25 LOC102725180 APC2 GRIN3B STK11 RNU6-2 WDR18 NDUFS7 MIDN PLK5 ABCA7 GPX4 ARID3A ARHGAP45 REEP6 EFNA2 CIRBP TMEM259 CIRBP-AS1 ATP5D
nsv578272	Chr.19:1233682 - 1244776 on Build GRCh38	Loss	CBARP ATP5D
nsv828368	Chr.19:1223051 - 1274100 on Build GRCh38	Gain	STK11 CBARP MIDN CIRBP CIRBP-AS1 ATP5D

More Information

• Set Membership: Intragenic, Intronic, 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