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 | 2076 | NP_001092805.1 |
NM_014759.3 | 5 | 1954 | NP_055574.3 | |
XM_006716416.1 | XP_006716479.1 | |||
XM_017014102.1 | 3 | 2219 | XP_016869591.1 | |
AK098743.1 | 6 | 1699 | ||
AK294372.1 | 4 | 1406 | ||
BC034034.1 | 5 | 1707 | AAH34034.1 | |
BC035940.1 | 5 | 1707 | AAH35940.1 | |
D87463.1 | 6 | 1785 |
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 BMP1 PHYHIP POLR3D LOC100507071 |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | MIR320A DMTN BMP1 HR PHYHIP POLR3D REEP4 NUDT18 LGI3 FAM160B2 SFTPC FGF17 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | MIR320A BMP1 PHYHIP POLR3D LOC100507071 PIWIL2 |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | MIR320A BMP1 HR PHYHIP POLR3D REEP4 NUDT18 LGI3 FAM160B2 LOC100507071 PIWIL2 SFTPC |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | MIR320A C8orf58 TNFRSF10C PHYHIP POLR3D LGI3 FAM160B2 LOC286114 LOC100507071 BIN3 LOC107986876 PEBP4 XPO7 LOC102467222 PDLIM2 RHOBTB2 PIWIL2 DMTN HR REEP4 TNFRSF10A TNFRSF10D CCAR2 CHMP7 SLC39A14 LOC101929172 BIN3-IT1 LOC389641 NPM2 BMP1 SORBS3 DOK2 PPP3CC NUDT18 LOC107984124 LOC286059 GFRA2 TNFRSF10B SFTPC LOC101929237 FGF17 LOC254896 EGR3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |