POLE
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
POLE (HGNC:9177) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DNA polymerase epsilon, catalytic subunit
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
POLE1
%HI
0.06(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
12q24.33
Genomic Coordinates
GRCh37/hg19: chr12:133200348-133263928 NCBI Ensembl UCSC
GRCh38/hg38: chr12:132623762-132687342 NCBI Ensembl UCSC
MANE Select Transcript
NM_006231.4 ENST00000320574.10 (Read more about MANE Select)
Function
Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2297
ClinGen Curation ID:
CCID:007692
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/16/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 23585368
    Smith et al. 2013: A germline intragenic deletion (c.5621 5622delGT) in POLE was found in a patient with advanced colorectal cancer at age 26y, inheritance and family history unknown.
  • PUBMED: 29020732
    Eoh et al. 2017: a next-generation sequencing panel of 35 genes run on 117 patients with ovarian cancer identified one patient with a frameshift mutation in POLE.
HI Evidence Comments:
Several studies (see PMID 23263490 Palles et al 2013; PMID 23585368 Smith et al 2013; PMID 24788313 Rohlin et al 2015; PMID 25559809 Chubb et al 2015; PMID 25110875, Kang et al 2015; PMID 25529843 Spier et al 2015; PMID 25860647 Hansen 2016; PMID: 26493165 Rohlin 2016; PMID 27573199 Wimmer 2016 ) report association of missense mutations in POLE (mainly in the exonuclease domain) and early-onset colon cancer and/or colon polyposis. There is emerging evidence that some exonuclease domain missense mutations cause a drastic decrease in fidelity of exonuclease activity for POLE. However, single gene deletions of POLE, or deletions of exons and truncating mutations occurring outside the exonuclease domain, are not as commonly reported. Functional evidence of the impact of these mutations (other than missense exonuclease domain mutations) is sparse.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence for triplosensitivity.

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)