Hs02642093_cn

• Gene Symbol: COA1
• Assay Reference Genome Location: Chr.7:43623752 on build GRCh38
• Cytoband: 7p13

Target Gene Details

• Entrez Gene ID: 55744
• Gene Name: cytochrome c oxidase assembly factor 1 homolog
• Gene Aliases: C7orf44, MITRAC15
• Location: Chr.7:43608452-43729541 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COA1	NR_135580.1
	NR_135581.1
	NR_135582.1
	NR_135583.1
	XM_017012416.1			XP_016867905.1
	XM_017012419.1			XP_016867908.1
	XM_017012431.1			XP_016867920.1
	XM_017012432.1			XP_016867921.1
	AK023053.1			BAB14379.1
	AK293043.1
	BM918741.1

Target Gene Details

• Entrez Gene ID: 9263
• Gene Name: serine/threonine kinase 17a
• Gene Aliases: DRAK1
• Location: Chr.7:43583093-43627379 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STK17A	NM_004760.2	6	935	NP_004751.2
	XM_017012792.1	6	747	XP_016868281.1
	AB011420.1	6	901	BAA34126.1
	AK097170.1	1	1468
	BC023508.2	6	891	AAH23508.2
	BC047696.1	6	904	AAH47696.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3612996	Chr.7:43537785 - 43656356 on Build GRCh38	Gain	COA1 STK17A HECW1

More Information

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

Panther Classification:

Molecular Function -

chaperone, non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

translation
mitochondrial respiratory chain complex I assembly
mitochondrial respiratory chain complex IV assembly
protein phosphorylation
apoptotic process
intracellular signal transduction
positive regulation of apoptotic process
positive regulation of fibroblast apoptotic process
regulation of reactive oxygen species metabolic process

Function(s)

RNA binding
structural constituent of ribosome
protein serine/threonine kinase activity
ATP binding