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 6 |
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 | |||
XM_017014102.1 | XP_016869591.1 | |||
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 LOC100507071 POLR3D MIR320A |
dgv12054n54 | Chr.8:22045805 - 22251098 on Build GRCh38 | Loss | HR LGI3 REEP4 PHYHIP BMP1 NUDT18 SFTPC FAM160B2 FGF17 DMTN POLR3D MIR320A |
nsv831265 | Chr.8:22199688 - 22366918 on Build GRCh38 | Loss | PHYHIP BMP1 LOC100507071 POLR3D PIWIL2 MIR320A |
nsv831264 | Chr.8:22093700 - 22328040 on Build GRCh38 | Gain+Loss | HR LGI3 REEP4 PHYHIP BMP1 NUDT18 SFTPC FAM160B2 LOC100507071 POLR3D PIWIL2 MIR320A |
esv2759604 | Chr.8:20675533 - 23254096 on Build GRCh38 | Loss | LOC107986876 PEBP4 NPM2 SLC39A14 FAM160B2 BIN3-IT1 TNFRSF10D PIWIL2 TNFRSF10B MIR320A BIN3 HR XPO7 LOC286114 CHMP7 NUDT18 SFTPC PPP3CC FGF17 PDLIM2 C8orf58 LOC107984124 SORBS3 EGR3 LGI3 LOC389641 LOC101929172 TNFRSF10C BMP1 LOC101929237 TNFRSF10A LOC100507071 POLR3D LOC254896 CCAR2 RHOBTB2 DOK2 REEP4 PHYHIP LOC102467222 LOC286059 GFRA2 DMTN |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |