Hs01153380_cn

• Gene Symbol: POLE
• Assay Reference Genome Location: Chr.12:132634214 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 5426
• Gene Name: DNA polymerase epsilon, catalytic subunit
• Gene Aliases: CRCS12, FILS, POLE1
• Location: Chr.12:132623762-132687524 on Build GRCh38
• Assay Gene Location: Overlaps Intron 45 - Exon 45

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLE	NM_006231.3			NP_006222.2
	XM_011534795.2			XP_011533097.1
	XM_011534797.2			XP_011533099.1
	XM_011534798.1			XP_011533100.1
	XM_011534802.2			XP_011533104.1
	AK025087.1			BAB15063.1
	AK093003.1
	BC007599.1			AAH07599.1
	BC021559.1			AAH21559.1
	BC087613.1			AAH87613.1
	BX647647.1
	L09561.1			AAC19148.1
	S60080.1			AAA15448.1
	U49356.1			AAA90924.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv561110	Chr.12:132630826 - 132677497 on Build GRCh38	Loss	POLE
nsv952512	Chr.12:132192256 - 132711214 on Build GRCh38	Deletion	GALNT9 MIR6763 LOC105370092 LOC101928416 LOC100130238 P2RX2 PXMP2 MUC8 FBRSL1 PGAM5 LOC100996573 LRCOL1 POLE
esv2422284	Chr.12:132604248 - 132708921 on Build GRCh38	Deletion	P2RX2 PXMP2 LRCOL1 POLE
nsv1037074	Chr.12:132613063 - 132801953 on Build GRCh38	Gain	ANKLE2 P2RX2 PXMP2 GOLGA3 PGAM5 POLE

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

G1/S transition of mitotic cell cycle
telomere maintenance via recombination
DNA synthesis involved in DNA repair
DNA replication
DNA replication initiation
base-excision repair, gap-filling
nucleotide-excision repair, DNA gap filling
embryonic organ development
nucleic acid phosphodiester bond hydrolysis

Function(s)

nucleotide binding
DNA binding
chromatin binding
DNA-directed DNA polymerase activity
zinc ion binding
3'-5' exonuclease activity
4 iron, 4 sulfur cluster binding