Hs05335997_cn

• Gene Symbol: DPH6
• Assay Reference Genome Location: Chr.15:35238463 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 89978
• Gene Name: diphthamine biosynthesis 6
• Gene Aliases: ATPBD4
• Location: Chr.15:35217356-35546222 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DPH6	XM_017022708.1			XP_016878197.1
	BX537862.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3552302	Chr.15:35237800 - 35243799 on Build GRCh38	Deletion	DPH6 ANP32AP1
nsv1486	Chr.15:35202047 - 35244348 on Build GRCh38	Deletion	DPH6 ANP32AP1
esv2464651	Chr.15:35238381 - 35244268 on Build GRCh38	Deletion	DPH6
nsv1487	Chr.15:35228589 - 35258344 on Build GRCh38	Insertion	DPH6 ANP32AP1
nsv952609	Chr.15:35236600 - 35241999 on Build GRCh38	Deletion	DPH6 ANP32AP1
esv3636132	Chr.15:35238426 - 35243735 on Build GRCh38	Loss	DPH6

More Information

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

Gene Ontology Categories:

Process(es)

peptidyl-diphthamide biosynthetic process from peptidyl-histidine
regulation of protein stability
positive regulation of protein targeting to mitochondrion

Function(s)

ATP binding
diphthine-ammonia ligase activity