POLE wt Allele

Preferred Label : POLE wt Allele;

NCIt synonyms : POLE1; Polymerase (DNA Directed), Epsilon, Catalytic Subunit Gene; CRCS12; Polymerase (DNA Directed), Epsilon-1 Gene; FILS; Polymerase (DNA Directed), Epsilon Gene; DNA Polymerase Epsilon, Catalytic Subunit wt Allele; Polymerase, DNA, Epsilon Gene; IMAGEI; Polymerase, DNA, Epsilon-1 Gene;

NCIt definition : Human POLE wild-type allele is located in the vicinity of 12q24.3 and is approximately 213 kb in length. This allele, which encodes DNA polymerase epsilon catalytic subunit A protein, plays a role in both DNA base-excision repair and DNA replication. Mutation of the gene may be associated with both increased susceptibility to colorectal malignancies and facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome.;

GenBank Accession Number : NM_006231;

Details

Origin ID

C106233;

UMLS CUI

C3811772;

Automatic exact mappings (from CISMeF team)
- Colorectal cancer, susceptibility to, 12 [OMIM Phenotype]
- DNA polymerase epsilon, catalytic subunit [ORDO Gene]
- Facial dysmorphism, immunodeficiency, livedo, and short stature [OMIM Phenotype]
- Polymerase, dna, epsilon [OMIM gene]
- Son [LOINC System]
- nuclear family [MeSH Descriptor]
OMIM relation
- Polymerase, dna, epsilon [OMIM gene]
See also inter- (CISMeF)
- Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Polymerase Proofreading Associated Polyposis [NCIt concept]
gene_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- DNA Replication Pathway [NCIt concept]
- Homologous Recombination Pathway [NCIt concept]
- Mismatch Repair Pathway [NCIt concept]
- Nucleotide Excision Repair Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Replication [NCIt concept]
- Excision Repair [NCIt concept]
- G1/S Transition Checkpoint [NCIt concept]
- Polymerization [NCIt concept]
- S Phase Process [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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