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 | 1546 | NP_001092805.1 |
NM_014759.3 | 5 | 1424 | NP_055574.3 | |
XM_006716416.1 | 5 | 1219 | XP_006716479.1 | |
XM_017014102.1 | 3 | 1689 | XP_016869591.1 | |
AK098743.1 | 6 | 1169 | ||
AK294372.1 | 4 | 876 | ||
BC034034.1 | 5 | 1177 | AAH34034.1 | |
BC035940.1 | 5 | 1177 | AAH35940.1 | |
D87463.1 | 6 | 1255 |
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 POLR3D BMP1 LOC100507071 PHYHIP |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | MIR320A SFTPC DMTN POLR3D REEP4 FAM160B2 BMP1 PHYHIP HR FGF17 LGI3 NUDT18 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | MIR320A POLR3D PIWIL2 BMP1 LOC100507071 PHYHIP |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | MIR320A SFTPC POLR3D REEP4 FAM160B2 PIWIL2 BMP1 LOC100507071 PHYHIP HR LGI3 NUDT18 |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | SLC39A14 BIN3-IT1 PPP3CC TNFRSF10A GFRA2 TNFRSF10C MIR320A RHOBTB2 POLR3D DOK2 FAM160B2 BMP1 LOC100507071 HR PDLIM2 FGF17 EGR3 LOC254896 C8orf58 SFTPC DMTN LOC389641 BIN3 PIWIL2 SORBS3 LOC286114 TNFRSF10D LOC286059 NPM2 LOC101929172 NUDT18 XPO7 REEP4 PEBP4 CHMP7 TNFRSF10B LOC101929237 LOC107984124 PHYHIP CCAR2 LOC107986876 LOC102467222 LGI3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |