Hs00331214_cn

• Gene Symbol: PHYHIP
• Assay Reference Genome Location: Chr.8:22232058 on build GRCh38
• Cytoband: 8p21.3

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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHYHIP	NM_001099335.1	1	281	NP_001092805.1
	NM_014759.3	1	281	NP_055574.3
	XM_006716416.1	1	76	XP_006716479.1
	AK098743.1	1	59
	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 MIR320A BMP1 PHYHIP POLR3D
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	NUDT18 MIR320A BMP1 REEP4 PHYHIP FGF17 FAM160B2 SFTPC HR POLR3D DMTN LGI3
nsv831265	Chr.8:22199688 - 22366918 on Build GRCh38	Loss	PIWIL2 LOC100507071 MIR320A BMP1 PHYHIP POLR3D
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	PIWIL2 NUDT18 LOC100507071 MIR320A BMP1 REEP4 PHYHIP FAM160B2 SFTPC HR POLR3D LGI3
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	SORBS3 CCAR2 BIN3 MIR320A PHYHIP FAM160B2 SFTPC TNFRSF10C POLR3D PDLIM2 TNFRSF10D BMP1 FGF17 LOC254896 NPM2 LOC286059 SLC39A14 DMTN NUDT18 LOC100507071 RHOBTB2 LOC286114 LOC102467222 HR LOC107984124 C8orf58 LGI3 DOK2 TNFRSF10B PIWIL2 TNFRSF10A CHMP7 REEP4 PPP3CC GFRA2 LOC107986876 EGR3 PEBP4 LOC389641 LOC101929172 BIN3-IT1 LOC101929237 XPO7

More Information

Additional Information:

• Set Membership: Intragenic, Exonic, DGV Variation, Validated

Gene Ontology Categories:

Process(es)

positive regulation of defense response to virus by host
mitophagy in response to mitochondrial depolarization
xenophagy