Hs03924002_cn

• Gene Symbol: COQ7
• Assay Reference Genome Location: Chr.16:19069255 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	ITPRIPL2 LOC102723385 SMG1 TMC7 COQ7
nsv571579	Chr.16:18793415 - 19238897 on Build GRCh38	Gain	ITPRIPL2 LOC102723385 ARL6IP1 SMG1 SYT17 TMC7 COQ7
nsv571582	Chr.16:19038056 - 19790801 on Build GRCh38	Gain	CLEC19A ITPRIPL2 LOC102723385 C16orf62 CCP110 KNOP1 IQCK TMC5 SYT17 GDE1 TMC7 COQ7
nsv1045019	Chr.16:18924787 - 19245673 on Build GRCh38	Gain	ITPRIPL2 LOC102723385 SMG1 SYT17 TMC7 COQ7
esv2758634	Chr.16:17440243 - 19147984 on Build GRCh38	Gain+Loss	RPS15A MIR3180-3 MIR3670-4 MIR6770-3 TMC7 COQ7 MIR3670-3 ITPRIPL2 NOMO2 LOC102723385 XYLT1 MIR3179-3 ARL6IP1 ABCC6P1 LOC105376752 LOC102723728 MIR6511A4 NPIPA8 MIR3179-4 SMG1
esv34419	Chr.16:18170242 - 19071899 on Build GRCh38	Gain	RPS15A MIR3180-3 MIR3670-4 MIR6770-3 TMC7 COQ7 MIR3670-3 NOMO2 LOC102723385 MIR3179-3 ARL6IP1 ABCC6P1 LOC105376752 LOC102723728 MIR6511A4 NPIPA8 MIR3179-4 SMG1
nsv436835	Chr.16:18930652 - 21500976 on Build GRCh38	Insertion	LOC100190986 PDILT ACSM5 CLEC19A ACSM2A CRYM-AS1 KNOP1 IQCK TMC5 DCUN1D3 GPRC5B GDE1 GPR139 C16orf62 THUMPD1 GP2 UMOD TMEM159 ZP2 ACSM3 LOC81691 CRYM ANKS4B ACSM1 TMC7 COQ7 SNX29P1 ITPRIPL2 LOC102723385 CCP110 LYRM1 DNAH3 NPIPB3 SMG1P3 ACSM2B ERI2 SYT17
esv3570409	Chr.16:18759489 - 19177870 on Build GRCh38	Gain	ITPRIPL2 LOC102723385 RPS15A ARL6IP1 SMG1 SYT17 TMC7 COQ7
nsv1051531	Chr.16:19004112 - 19117453 on Build GRCh38	Gain	ITPRIPL2 LOC102723385 TMC7 COQ7

More Information

• 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