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See other POLE CNV Assays ›
Gene Symbol
POLE
Assay Reference Genome
Location

Chr.12:132624512 on build GRCh38
Cytoband
12q24.33
Assay ID Hs01636684_cn
Size
Availability Made To Order
Catalog # 4400291
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

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 7255 NP_006222.2
AF128544.1 1 188
AK025087.1 8 1328 BAB15063.1
AK093003.1 12 2248
AK128248.1 2 1346
AL080203.1 5 849 CAB45774.1
BC007599.1 15 2581 AAH07599.1
BC021559.1 10 1560 AAH21559.1
BC087613.1 15 2581 AAH87613.1
BX647647.1 23 4700

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 LOC101928416 FBRSL1 PGAM5 LRCOL1 PXMP2 LOC105370092 POLE LOC100130238 MIR6763 P2RX2 GALNT9 LOC100996573 MUC8
nsv561109 Chr.12:132618549 - 132626173 on Build GRCh38 Loss POLE P2RX2
esv2422284 Chr.12:132604248 - 132708921 on Build GRCh38 Deletion POLE LRCOL1 PXMP2 P2RX2
nsv1037074 Chr.12:132613063 - 132801953 on Build GRCh38 Gain GOLGA3 POLE PGAM5 PXMP2 ANKLE2 P2RX2

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More Information


Set Membership:

Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

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

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