Assay Details
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 | 2352 | NP_001177912.1 |
NM_016138.4 | 6 | 2403 | NP_057222.2 | |
AI279093.1 | 1 | 199 | ||
AI424412.1 | 1 | 265 | ||
AK024291.1 | 6 | 2384 | BAB14876.1 |
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 COQ7 LOC102723385 SMG1 TMC7 |
nsv571579 | Chr.16:18793415 - 19238897 on Build GRCh38 | Gain | ITPRIPL2 COQ7 LOC102723385 SYT17 SMG1 TMC7 ARL6IP1 |
nsv571582 | Chr.16:19038056 - 19790801 on Build GRCh38 | Gain | CLEC19A IQCK ITPRIPL2 TMC5 COQ7 GDE1 LOC102723385 KNOP1 SYT17 TMC7 C16orf62 CCP110 |
nsv1045019 | Chr.16:18924787 - 19245673 on Build GRCh38 | Gain | ITPRIPL2 COQ7 LOC102723385 SYT17 SMG1 TMC7 |
esv2758634 | Chr.16:17440243 - 19147984 on Build GRCh38 | Gain+Loss | MIR3670-4 RPS15A MIR3179-4 LOC102723385 ABCC6P1 SMG1 TMC7 XYLT1 MIR3179-3 ITPRIPL2 MIR6511A4 COQ7 NOMO2 MIR3670-3 MIR6770-3 LOC105376752 LOC102723728 MIR3180-3 ARL6IP1 NPIPA8 |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | SMG1P3 GPR139 ACSM2A DCUN1D3 TMC7 CRYM-AS1 C16orf62 ZP2 PDILT IQCK ITPRIPL2 COQ7 UMOD ACSM1 ACSM2B THUMPD1 CRYM TMEM159 CLEC19A ANKS4B LOC100190986 TMC5 SNX29P1 LYRM1 LOC102723385 KNOP1 SYT17 CCP110 ACSM5 GPRC5B ERI2 NPIPB3 LOC81691 DNAH3 GDE1 ACSM3 GP2 |
esv3570409 | Chr.16:18759489 - 19177870 on Build GRCh38 | Gain | RPS15A ITPRIPL2 COQ7 LOC102723385 SYT17 SMG1 TMC7 ARL6IP1 |
nsv103187 | Chr.16:19077605 - 19085947 on Build GRCh38 | Deletion | COQ7 |
nsv1051531 | Chr.16:19004112 - 19117453 on Build GRCh38 | Gain | ITPRIPL2 COQ7 LOC102723385 TMC7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |