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 | 2306 | NP_001092805.1 |
NM_014759.3 | 5 | 2184 | NP_055574.3 | |
XM_006716416.1 | XP_006716479.1 | |||
XM_017014102.1 | 3 | 2449 | XP_016869591.1 | |
AK098743.1 | ||||
BC034034.1 | 5 | 1937 | AAH34034.1 | |
BC035940.1 | 5 | 1937 | AAH35940.1 | |
D87463.1 | 6 | 2015 |
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 | PHYHIP BMP1 MIR320A POLR3D LOC100507071 |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | PHYHIP FGF17 DMTN HR SFTPC LGI3 BMP1 MIR320A POLR3D FAM160B2 REEP4 NUDT18 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | PHYHIP PIWIL2 BMP1 MIR320A POLR3D LOC100507071 |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | PHYHIP HR SFTPC LGI3 PIWIL2 BMP1 MIR320A POLR3D LOC100507071 FAM160B2 REEP4 NUDT18 |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | CCAR2 FGF17 PPP3CC TNFRSF10C EGR3 TNFRSF10B TNFRSF10D LOC107984124 C8orf58 LOC286059 RHOBTB2 LOC101929172 LOC286114 LOC389641 BIN3 PIWIL2 MIR320A NPM2 LOC100507071 FAM160B2 REEP4 PHYHIP DMTN HR LOC107986876 LGI3 TNFRSF10A BIN3-IT1 BMP1 SORBS3 POLR3D SLC39A14 CHMP7 PDLIM2 XPO7 DOK2 GFRA2 SFTPC LOC254896 LOC102467222 LOC101929237 PEBP4 NUDT18 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |