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