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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHYHIP | NM_001099335.1 | 1 | 281 | NP_001092805.1 |
NM_014759.3 | 1 | 281 | NP_055574.3 | |
XM_006716416.1 | 1 | 76 | XP_006716479.1 | |
AK098743.1 | 1 | 59 | ||
AK294372.1 | ||||
BC034034.1 | AAH34034.1 | |||
BC035940.1 | AAH35940.1 | |||
D87463.1 |
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 | LOC100507071 MIR320A BMP1 PHYHIP POLR3D |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | NUDT18 MIR320A BMP1 REEP4 PHYHIP FGF17 FAM160B2 SFTPC HR POLR3D DMTN LGI3 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | PIWIL2 LOC100507071 MIR320A BMP1 PHYHIP POLR3D |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | PIWIL2 NUDT18 LOC100507071 MIR320A BMP1 REEP4 PHYHIP FAM160B2 SFTPC HR POLR3D LGI3 |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | SORBS3 CCAR2 BIN3 MIR320A PHYHIP FAM160B2 SFTPC TNFRSF10C POLR3D PDLIM2 TNFRSF10D BMP1 FGF17 LOC254896 NPM2 LOC286059 SLC39A14 DMTN NUDT18 LOC100507071 RHOBTB2 LOC286114 LOC102467222 HR LOC107984124 C8orf58 LGI3 DOK2 TNFRSF10B PIWIL2 TNFRSF10A CHMP7 REEP4 PPP3CC GFRA2 LOC107986876 EGR3 PEBP4 LOC389641 LOC101929172 BIN3-IT1 LOC101929237 XPO7 |
More Information
Additional Information:
Set Membership: |
Intragenic Exonic DGV Variation Validated |