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Gene : POLE Homo sapiens

Name  ? DNA polymerase epsilon, catalytic subunit Cytological Location  12q24.33
Brief Description  DNA polymerase epsilon, catalytic subunit
Description  This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
  • synonyms:
  • POLE1,
  • FILS,
  • NM_006231,
  • uc001uks.3,
  • POLE1,
  • polymerase (DNA) epsilon, catalytic subunit,
  • polymerase (DNA directed), epsilon,
  • HGNC:9177,
  • IMAGEI,
  • OTTHUMG00000168045,
  • CRCS12,
  • POLE,
  • DNA polymerase epsilon catalytic subunit A
  • identifiers:
  • 5426,
  • ENSG00000177084,
  • POLE

Genome feature

Region: gene ? Length: 63762  
Location: 12:132623758-132687519 reverse strand Cyto location: 12q24.33


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Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results