Hs05850557_cn

• Gene Symbol: APLF
• Assay Reference Genome Location: Chr.2:68516044 on build GRCh38
• Cytoband: 2p13.3

Target Gene Details

• Entrez Gene ID: 200558
• Gene Name: aprataxin and PNKP like factor
• Gene Aliases: APFL, C2orf13, PALF, Xip1, ZCCHH1
• Location: Chr.2:68467559-68580162 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APLF	NM_173545.2			NP_775816.1
	AK290841.1
	AK308186.1
	BC041144.1			AAH41144.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1003470	Chr.2:68494353 - 68581076 on Build GRCh38	Gain	APLF
esv3591168	Chr.2:68463983 - 68522612 on Build GRCh38	Loss	FBXO48 APLF

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

single strand break repair
double-strand break repair
cellular response to DNA damage stimulus
regulation of isotype switching
positive regulation of DNA ligation
nucleic acid phosphodiester bond hydrolysis

Function(s)

nucleotide binding
DNA-(apurinic or apyrimidinic site) lyase activity
endodeoxyribonuclease activity
protein binding
3'-5' exonuclease activity
metal ion binding