Assay Details
Target Gene Details
Entrez Gene ID: | 9796 |
Gene Name: | phytanoyl-CoA 2-hydroxylase interacting protein |
Gene Aliases: |
DYRK1AP3, PAHX-AP, PAHXAP1 |
Location: |
Chr.8:22219703-22232338 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHYHIP | NM_001099335.1 | 6 | 3162 | NP_001092805.1 |
NM_014759.3 | 5 | 3040 | NP_055574.3 | |
XM_006716416.1 | 6 | 1750 | XP_006716479.1 | |
XM_017014102.1 | 3 | 3305 | XP_016869591.1 | |
AK098743.1 | ||||
BC034034.1 | 5 | 2793 | AAH34034.1 | |
BC035940.1 | 5 | 2793 | AAH35940.1 | |
BM674072.1 | 1 | 193 | ||
D87463.1 | 6 | 2871 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470205 | Chr.8:22191277 - 22256052 on Build GRCh38 | Loss | MIR320A PHYHIP POLR3D LOC100507071 BMP1 |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | HR SFTPC MIR320A LGI3 PHYHIP DMTN POLR3D FAM160B2 FGF17 REEP4 BMP1 NUDT18 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | MIR320A PIWIL2 PHYHIP POLR3D LOC100507071 BMP1 |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | HR SFTPC MIR320A LGI3 PIWIL2 PHYHIP POLR3D FAM160B2 LOC100507071 REEP4 BMP1 NUDT18 |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | PPP3CC LOC107986876 C8orf58 LOC389641 DMTN REEP4 SLC39A14 TNFRSF10B LOC102467222 XPO7 SORBS3 PDLIM2 RHOBTB2 SFTPC LGI3 LOC286114 GFRA2 EGR3 DOK2 TNFRSF10D POLR3D NPM2 FGF17 BIN3-IT1 CCAR2 TNFRSF10A PEBP4 LOC101929237 PIWIL2 CHMP7 LOC286059 BMP1 NUDT18 LOC101929172 HR BIN3 MIR320A LOC107984124 PHYHIP LOC254896 TNFRSF10C FAM160B2 LOC100507071 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |