Hs01462768_cn

• Gene Symbol: PHYHIP
• Assay Reference Genome Location: Chr.8:22221146 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 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHYHIP	NM_001099335.1	6	1894	NP_001092805.1
	NM_014759.3	5	1772	NP_055574.3
	XM_006716416.1			XP_006716479.1
	XM_017014102.1	3	2037	XP_016869591.1
	AK098743.1	6	1517
	AK294372.1	4	1224
	BC034034.1	5	1525	AAH34034.1
	BC035940.1	5	1525	AAH35940.1
	D87463.1	6	1603

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

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