Hs01803743_cn

• Gene Symbol: POLE
• Assay Reference Genome Location: Chr.12:132623956 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: Within Exon 52

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLE	NM_006231.3	49	7811	NP_006222.2
	AF128544.1	1	744
	AK025087.1	8	1884	BAB15063.1
	AK093003.1	12	2804
	AK128248.1	2	1902
	AL080203.1	5	1405	CAB45774.1
	BC007599.1	15	3137	AAH07599.1
	BC021559.1	10	2116	AAH21559.1
	BC087613.1	15	3137	AAH87613.1
	BX647647.1	23	5256

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952512	Chr.12:132192256 - 132711214 on Build GRCh38	Deletion	LRCOL1 LOC105370092 POLE PXMP2 PGAM5 LOC100996573 GALNT9 MIR6763 LOC100130238 FBRSL1 LOC101928416 MUC8 P2RX2
nsv561109	Chr.12:132618549 - 132626173 on Build GRCh38	Loss	POLE P2RX2
esv2422284	Chr.12:132604248 - 132708921 on Build GRCh38	Deletion	LRCOL1 POLE PXMP2 P2RX2
nsv1037074	Chr.12:132613063 - 132801953 on Build GRCh38	Gain	GOLGA3 POLE ANKLE2 PXMP2 PGAM5 P2RX2

More Information

• Set Membership: Intragenic, 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