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 4 |
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 | PHYHIP BMP1 MIR320A POLR3D LOC100507071 |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | FAM160B2 PHYHIP SFTPC BMP1 LGI3 MIR320A HR REEP4 DMTN POLR3D NUDT18 FGF17 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | PHYHIP BMP1 PIWIL2 MIR320A POLR3D LOC100507071 |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | FAM160B2 PHYHIP SFTPC BMP1 LGI3 PIWIL2 MIR320A HR REEP4 POLR3D LOC100507071 NUDT18 |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | FAM160B2 LOC286059 RHOBTB2 LOC107984124 LOC102467222 PIWIL2 SORBS3 HR CCAR2 POLR3D LOC100507071 EGR3 BIN3-IT1 PHYHIP SFTPC LOC389641 TNFRSF10D XPO7 CHMP7 REEP4 PDLIM2 DMTN GFRA2 PPP3CC SLC39A14 TNFRSF10A LOC101929237 LOC107986876 C8orf58 LOC286114 MIR320A TNFRSF10C BIN3 NUDT18 LOC101929172 FGF17 LOC254896 TNFRSF10B BMP1 LGI3 PEBP4 NPM2 DOK2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |