Hs01366671_cn

• Gene Symbol: PNPO
• Assay Reference Genome Location: Chr.17:47946912 on build GRCh38
• Cytoband: 17q21.32

Target Gene Details

• Entrez Gene ID: 55163
• Gene Name: pyridoxamine 5'-phosphate oxidase
• Gene Aliases: HEL-S-302, PDXPO
• Location: Chr.17:47941523-47949308 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PNPO	NM_018129.3	7	1069	NP_060599.1
	XM_005257500.3	7	1259	XP_005257557.1
	XM_011524968.2	6	842	XP_011523270.1
	XM_017024813.1	7	857	XP_016880302.1
	AK001397.1	7	1021	BAA91668.1
	AK223242.1	7	1000	BAD96962.1
	AK303536.1	6	844
	AK303665.1	6	892
	AK303792.1	6	968
	BC006525.2	7	956	AAH06525.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv1000014	Chr.17:47941862 - 47952091 on Build GRCh38	Deletion	PNPO PRR15L
nsv518892	Chr.17:47810585 - 47952066 on Build GRCh38	Loss	LRRC46 PNPO PRR15L LOC102724532 OSBPL7 SP2 SCRN2 MRPL10 SP6 SP2-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs117508783] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

positive regulation of defense response to virus by host
pyridoxine biosynthetic process
vitamin B6 metabolic process
pyridoxal phosphate biosynthetic process
oxidation-reduction process
mitophagy in response to mitochondrial depolarization
xenophagy

Function(s)

pyridoxamine-phosphate oxidase activity
FMN binding