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 | 861 | NP_001177912.1 |
NM_016138.4 | 6 | 912 | NP_057222.2 | |
AK024291.1 | 6 | 893 | BAB14876.1 | |
AK225115.1 | 6 | 861 | ||
BC043272.1 | 6 | 1662 | 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 ITPRIPL2 TMC7 LOC102723385 |
nsv571579 | Chr.16:18793415 - 19238897 on Build GRCh38 | Gain | SMG1 ARL6IP1 COQ7 ITPRIPL2 SYT17 TMC7 LOC102723385 |
nsv571582 | Chr.16:19038056 - 19790801 on Build GRCh38 | Gain | COQ7 C16orf62 GDE1 ITPRIPL2 CLEC19A SYT17 IQCK TMC7 CCP110 TMC5 KNOP1 LOC102723385 |
nsv1045019 | Chr.16:18924787 - 19245673 on Build GRCh38 | Gain | SMG1 COQ7 ITPRIPL2 SYT17 TMC7 LOC102723385 |
esv2758634 | Chr.16:17440243 - 19147984 on Build GRCh38 | Gain+Loss | SMG1 MIR3180-3 ARL6IP1 RPS15A LOC105376752 COQ7 ITPRIPL2 ABCC6P1 MIR3670-4 MIR3670-3 MIR6511A4 XYLT1 LOC102723385 MIR3179-3 NPIPA8 MIR3179-4 MIR6770-3 LOC102723728 TMC7 NOMO2 |
nsv436835 | Chr.16:18930652 - 21500976 on Build GRCh38 | Insertion | ACSM5 COQ7 DNAH3 LOC100190986 PDILT SNX29P1 CRYM-AS1 THUMPD1 SYT17 CCP110 LOC81691 UMOD GPRC5B ACSM2A IQCK ANKS4B ACSM3 ZP2 C16orf62 ACSM2B GDE1 TMEM159 ITPRIPL2 GP2 NPIPB3 TMC5 SMG1P3 LOC102723385 DCUN1D3 CRYM CLEC19A ACSM1 LYRM1 TMC7 ERI2 KNOP1 GPR139 |
esv3570409 | Chr.16:18759489 - 19177870 on Build GRCh38 | Gain | SMG1 ARL6IP1 RPS15A COQ7 ITPRIPL2 SYT17 TMC7 LOC102723385 |
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
Set Membership: |
Intragenic Exonic DGV Variation |