Hs05317312_cn

• Gene Symbol: POLE2
• Assay Reference Genome Location: Chr.14:49646063 on build GRCh38
• Cytoband: 14q21.3

Target Gene Details

• Entrez Gene ID: 5427
• Gene Name: DNA polymerase epsilon 2, accessory subunit
• Gene Aliases: DPE2
• Location: Chr.14:49643552-49688417 on Build GRCh38
• Assay Gene Location: Within Intron 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLE2	NM_001197330.1			NP_001184259.1
	NM_002692.3			NP_002683.2
	XM_017021375.1			XP_016876864.1
	AF025840.1			AAC51920.1
	AF036899.1			AAC39610.1
	AK293163.1
	AK314963.1
	BC126218.1
	BC126220.1
	BG189206.1
	BX248064.1			CAD62358.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1035708	Chr.14:49632775 - 49749281 on Build GRCh38	Gain	DNAAF2 KLHDC1 POLE2
esv3634466	Chr.14:49643688 - 49728973 on Build GRCh38	Gain	KLHDC1 POLE2
esv28926	Chr.14:49426970 - 50475809 on Build GRCh38	Gain+Loss	MIR6076 RN7SL2 ATP5S L2HGDH LRR1 DNAAF2 KLHDC1 LINC01588 RPS29 POLE2 VCPKMT MIR4504 SOS2 LOC100288910 MGAT2 KLHDC2 LOC100506446 MAP4K5 NEMF LINC01599 RPL36AL CDKL1 RN7SL1 ARF6

More Information

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

Panther Classification:

Molecular Function -

DNA-directed DNA polymerase

Gene Ontology Categories:

Process(es)

G1/S transition of mitotic cell cycle
telomere maintenance via recombination
DNA replication
DNA-dependent DNA replication
DNA replication initiation
DNA repair
error-prone translesion synthesis

Function(s)

DNA binding
DNA-directed DNA polymerase activity
protein binding