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 | 1722 | NP_001092805.1 |
NM_014759.3 | 5 | 1600 | NP_055574.3 | |
XM_006716416.1 | XP_006716479.1 | |||
XM_017014102.1 | 3 | 1865 | XP_016869591.1 | |
AK098743.1 | 6 | 1345 | ||
AK294372.1 | 4 | 1052 | ||
BC034034.1 | 5 | 1353 | AAH34034.1 | |
BC035940.1 | 5 | 1353 | AAH35940.1 | |
D87463.1 | 6 | 1431 |
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 LOC100507071 BMP1 PHYHIP POLR3D |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | LGI3 MIR320A FAM160B2 NUDT18 DMTN SFTPC BMP1 PHYHIP POLR3D REEP4 HR FGF17 |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | MIR320A LOC100507071 PIWIL2 BMP1 PHYHIP POLR3D |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | LGI3 MIR320A FAM160B2 NUDT18 LOC100507071 PIWIL2 SFTPC BMP1 PHYHIP POLR3D REEP4 HR |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | MIR320A LOC100507071 RHOBTB2 GFRA2 DMTN CCAR2 PPP3CC BMP1 LOC101929172 HR LOC107984124 PEBP4 TNFRSF10A TNFRSF10D PIWIL2 LOC101929237 PHYHIP POLR3D FGF17 NUDT18 TNFRSF10C LOC286114 LOC254896 XPO7 TNFRSF10B BIN3 LOC389641 DOK2 SFTPC BIN3-IT1 LOC102467222 LGI3 FAM160B2 LOC286059 SORBS3 C8orf58 SLC39A14 CHMP7 EGR3 REEP4 PDLIM2 LOC107986876 NPM2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |