Hs04021204_cn

• Gene Symbol: ATP5D
• Assay Reference Genome Location: Chr.19:1243923 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
	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	ABCA7 EFNA2 CBARP POLR2E GPX4 MIDN C19orf24 ATP5D LOC102725180 SBNO2 CIRBP CIRBP-AS1 ARHGAP45 STK11
nsv578268	Chr.19:1221162 - 1250886 on Build GRCh38	Loss	ATP5D CBARP MIDN STK11
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	ABCA7 EFNA2 CBARP POLR2E GPX4 MIDN C19orf24 ATP5D LOC102725180 SBNO2 CIRBP CNN2 CIRBP-AS1 ARHGAP45 STK11
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	ATP5D LOC102725180 EFNA2 CBARP SBNO2 CIRBP CIRBP-AS1 MIDN C19orf24 STK11
dgv6196n54	Chr.19:1222317 - 1245701 on Build GRCh38	Loss	ATP5D CBARP STK11
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	ATP5D EFNA2 CBARP CIRBP CIRBP-AS1 MIDN C19orf24 STK11
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	ATP5D EFNA2 CBARP CIRBP CIRBP-AS1 MIDN C19orf24 STK11
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	EFNA2 CBARP POLR2E GPX4 MIDN C19orf24 ATP5D LOC102725180 SBNO2 CIRBP CIRBP-AS1 ARHGAP45 STK11
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	KISS1R ABCA7 RNU6-2 EFNA2 R3HDM4 CBARP POLR2E GPX4 TMEM259 MIDN C19orf24 RNU6-9 ATP5D LOC102725180 ARID3A SBNO2 CIRBP CNN2 CIRBP-AS1 GRIN3B WDR18 ARHGAP45 LOC105372235 STK11
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	ABCA7 EFNA2 R3HDM4 POLR2E GPX4 TMEM259 MIDN SBNO2 CNN2 CIRBP-AS1 GRIN3B WDR18 KISS1R RNU6-2 CBARP MED16 C19orf24 RNU6-9 ATP5D LOC102725180 ARID3A CIRBP ARHGAP45 LOC105372235 STK11
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	ABCA7 EFNA2 POLR2E GPX4 PCSK4 TMEM259 MIDN C19orf25 GAMT SBNO2 CNN2 CIRBP-AS1 GRIN3B REEP6 WDR18 APC2 RPS15 RNU6-2 ADAMTSL5 CBARP NDUFS7 C19orf24 ATP5D LOC102725180 ARID3A CIRBP MUM1 PLK5 ARHGAP45 LOC105372235 DAZAP1 STK11
nsv578272	Chr.19:1233682 - 1244776 on Build GRCh38	Loss	ATP5D CBARP
nsv828368	Chr.19:1223051 - 1274100 on Build GRCh38	Gain	ATP5D CBARP CIRBP CIRBP-AS1 MIDN STK11

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