Hs03952880_cn

• Gene Symbol: COQ7
• Assay Reference Genome Location: Chr.16:19070868 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COQ7	NM_001190983.1			NP_001177912.1
	NM_016138.4			NP_057222.2
	AF098948.1			AAD43648.1
	AK024291.1			BAB14876.1
	AK225115.1
	AK315470.1
	AL136647.1			CAB66582.1
	BC003185.1			AAH03185.1
	BC043272.1			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	SMG1 COQ7 TMC7 ITPRIPL2 LOC102723385
nsv571579	Chr.16:18793415 - 19238897 on Build GRCh38	Gain	ARL6IP1 SMG1 COQ7 TMC7 ITPRIPL2 SYT17 LOC102723385
nsv571582	Chr.16:19038056 - 19790801 on Build GRCh38	Gain	C16orf62 COQ7 CLEC19A GDE1 CCP110 TMC7 TMC5 ITPRIPL2 SYT17 IQCK KNOP1 LOC102723385
nsv1045019	Chr.16:18924787 - 19245673 on Build GRCh38	Gain	SMG1 COQ7 TMC7 ITPRIPL2 SYT17 LOC102723385
esv2758634	Chr.16:17440243 - 19147984 on Build GRCh38	Gain+Loss	ARL6IP1 SMG1 MIR3179-4 MIR3670-3 LOC105376752 MIR6770-3 ITPRIPL2 MIR3670-4 LOC102723728 XYLT1 LOC102723385 RPS15A MIR3180-3 NPIPA8 COQ7 NOMO2 TMC7 MIR6511A4 ABCC6P1 MIR3179-3
esv34419	Chr.16:18170242 - 19071899 on Build GRCh38	Gain	ARL6IP1 SMG1 MIR3179-4 MIR3670-3 LOC105376752 MIR6770-3 MIR3670-4 LOC102723728 LOC102723385 RPS15A MIR3180-3 NPIPA8 COQ7 NOMO2 TMC7 MIR6511A4 ABCC6P1 MIR3179-3
nsv436835	Chr.16:18930652 - 21500976 on Build GRCh38	Insertion	C16orf62 GPRC5B GDE1 LYRM1 THUMPD1 SNX29P1 ITPRIPL2 DNAH3 CRYM-AS1 ZP2 GP2 LOC102723385 ACSM2A ACSM3 NPIPB3 LOC81691 DCUN1D3 TMC7 TMC5 UMOD CRYM ACSM1 KNOP1 SMG1P3 TMEM159 LOC100190986 ACSM2B ANKS4B PDILT ACSM5 COQ7 CLEC19A CCP110 SYT17 IQCK ERI2 GPR139
esv3570409	Chr.16:18759489 - 19177870 on Build GRCh38	Gain	ARL6IP1 SMG1 COQ7 TMC7 ITPRIPL2 SYT17 LOC102723385 RPS15A
nsv1051531	Chr.16:19004112 - 19117453 on Build GRCh38	Gain	COQ7 TMC7 ITPRIPL2 LOC102723385

More Information

Additional Information:

For this assay, SNP(s) [rs78014980] 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, Intronic, Non-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