Hs01515618_cn

• Gene Symbol: COQ7
• Assay Reference Genome Location: Chr.16:19078896 on build GRCh38
• Cytoband: 16p12.3

Target Gene Details

• Entrez Gene ID: 10229
• Gene Name: coenzyme Q7, hydroxylase
• Gene Aliases: CAT5, CLK-1, CLK1, COQ10D8
• Location: Chr.16:19067595-19083097 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COQ7	NM_001190983.1	6	1411	NP_001177912.1
	NM_016138.4	6	1462	NP_057222.2
	AK024291.1	6	1443	BAB14876.1
	BC043272.1	6	2212	AAH43272.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv2787n100	Chr.16:18870180 - 19117453 on Build GRCh38	Gain	COQ7 ITPRIPL2 TMC7 LOC102723385 SMG1
nsv571579	Chr.16:18793415 - 19238897 on Build GRCh38	Gain	COQ7 ITPRIPL2 TMC7 LOC102723385 SYT17 ARL6IP1 SMG1
nsv571582	Chr.16:19038056 - 19790801 on Build GRCh38	Gain	COQ7 ITPRIPL2 TMC7 CLEC19A IQCK C16orf62 LOC102723385 TMC5 SYT17 GDE1 CCP110 KNOP1
nsv1045019	Chr.16:18924787 - 19245673 on Build GRCh38	Gain	COQ7 ITPRIPL2 TMC7 LOC102723385 SYT17 SMG1
esv2758634	Chr.16:17440243 - 19147984 on Build GRCh38	Gain+Loss	MIR3670-4 ABCC6P1 MIR3670-3 MIR3179-3 ITPRIPL2 LOC102723385 LOC105376752 NPIPA8 SMG1 MIR3179-4 MIR6770-3 XYLT1 COQ7 RPS15A TMC7 MIR6511A4 MIR3180-3 ARL6IP1 LOC102723728 NOMO2
nsv436835	Chr.16:18930652 - 21500976 on Build GRCh38	Insertion	DNAH3 CLEC19A SMG1P3 C16orf62 ACSM5 GP2 ERI2 CRYM-AS1 SYT17 ACSM2B LOC100190986 THUMPD1 TMC7 ACSM3 IQCK DCUN1D3 UMOD TMC5 ZP2 KNOP1 CRYM ACSM2A ACSM1 TMEM159 ITPRIPL2 LYRM1 LOC102723385 PDILT ANKS4B GPRC5B GPR139 GDE1 LOC81691 SNX29P1 NPIPB3 COQ7 CCP110
esv3570409	Chr.16:18759489 - 19177870 on Build GRCh38	Gain	COQ7 ITPRIPL2 RPS15A TMC7 LOC102723385 SYT17 ARL6IP1 SMG1
nsv103187	Chr.16:19077605 - 19085947 on Build GRCh38	Deletion	COQ7
nsv1051531	Chr.16:19004112 - 19117453 on Build GRCh38	Gain	COQ7 ITPRIPL2 TMC7 LOC102723385

More Information

Additional Information:

For this assay, SNP(s) [rs74841864] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

ubiquinone biosynthetic process
response to drug
oxidation-reduction process

Function(s)

protein binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
metal ion binding