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 | 2213 | NP_001177912.1 |
NM_016138.4 | 6 | 2264 | NP_057222.2 | |
AI279093.1 | 1 | 338 | ||
AI424412.1 | 1 | 404 | ||
AK024291.1 | 6 | 2245 | 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 TMC7 SMG1 COQ7 LOC102723385 |
nsv571579 | Chr.16:18793415 - 19238897 on Build GRCh38 | Gain | ARL6IP1 ITPRIPL2 TMC7 SMG1 COQ7 LOC102723385 SYT17 |
nsv571582 | Chr.16:19038056 - 19790801 on Build GRCh38 | Gain | CLEC19A KNOP1 C16orf62 IQCK TMC5 ITPRIPL2 TMC7 CCP110 GDE1 COQ7 LOC102723385 SYT17 |
nsv1045019 | Chr.16:18924787 - 19245673 on Build GRCh38 | Gain | ITPRIPL2 TMC7 SMG1 COQ7 LOC102723385 SYT17 |
esv2758634 | Chr.16:17440243 - 19147984 on Build GRCh38 | Gain+Loss | MIR3670-4 LOC102723728 ARL6IP1 NOMO2 ITPRIPL2 TMC7 MIR6770-3 COQ7 MIR6511A4 LOC105376752 XYLT1 MIR3670-3 MIR3179-3 MIR3179-4 ABCC6P1 SMG1 LOC102723385 NPIPA8 MIR3180-3 RPS15A |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | UMOD ITPRIPL2 LYRM1 ACSM5 PDILT COQ7 ACSM3 IQCK LOC81691 ZP2 GP2 SMG1P3 ANKS4B GPR139 GDE1 LOC102723385 SYT17 CLEC19A THUMPD1 C16orf62 SNX29P1 DCUN1D3 TMC7 NPIPB3 CCP110 CRYM-AS1 DNAH3 ACSM2A LOC100190986 TMEM159 KNOP1 CRYM TMC5 ERI2 GPRC5B ACSM1 ACSM2B |
esv3570409 | Chr.16:18759489 - 19177870 on Build GRCh38 | Gain | ARL6IP1 ITPRIPL2 TMC7 SMG1 COQ7 LOC102723385 SYT17 RPS15A |
nsv103187 | Chr.16:19077605 - 19085947 on Build GRCh38 | Deletion | COQ7 |
nsv1051531 | Chr.16:19004112 - 19117453 on Build GRCh38 | Gain | ITPRIPL2 TMC7 COQ7 LOC102723385 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |