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: | Overlaps Intron 1 - Exon 2 |
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 | LOC100507071 BMP1 POLR3D PHYHIP MIR320A |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | BMP1 LGI3 FAM160B2 POLR3D REEP4 DMTN HR PHYHIP NUDT18 MIR320A SFTPC FGF17 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | LOC100507071 BMP1 POLR3D PIWIL2 PHYHIP MIR320A |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | LOC100507071 BMP1 LGI3 FAM160B2 POLR3D REEP4 HR PIWIL2 PHYHIP NUDT18 MIR320A SFTPC |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | RHOBTB2 BMP1 POLR3D LOC107984124 DMTN DOK2 CHMP7 PDLIM2 BIN3-IT1 LOC254896 LOC107986876 BIN3 LOC389641 NPM2 LOC101929237 HR TNFRSF10A NUDT18 MIR320A LOC101929172 FGF17 TNFRSF10D LOC286059 LOC100507071 LGI3 FAM160B2 LOC102467222 PEBP4 PPP3CC SFTPC XPO7 GFRA2 EGR3 SLC39A14 TNFRSF10C C8orf58 REEP4 PIWIL2 SORBS3 PHYHIP LOC286114 CCAR2 TNFRSF10B |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |