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Gene : APEX1 Homo sapiens

Name  ? apurinic/apyrimidinic endodeoxyribonuclease 1 Cytological Location  14q11.2
Brief Description  apurinic/apyrimidinic endodeoxyribonuclease 1
Description  The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]
  • synonyms:
  • APE,
  • REF-1,
  • uc001vxi.4,
  • REF1,
  • APEN,
  • HAP1,
  • REF1,
  • APEX,
  • APEX1,
  • APEX nuclease (multifunctional DNA repair enzyme) 1,
  • APEN,
  • HAP1,
  • APX,
  • X59764,
  • OTTHUMG00000029544,
  • HGNC:587,
  • APE,
  • APEX nuclease (multifunctional DNA repair enzyme),
  • APX,
  • APEX,
  • APE1,
  • NM_001641,
  • APE-1
  • identifiers:
  • 328,
  • ENSG00000100823,
  • APEX1

Genome feature

Region: gene ? Length: 2542  
Location: 14:20455226-20457767 Cyto location: 14q11.2

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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

Gene Ontology

Gene --> GO terms.



125 SN Ps

5 Cross References

16 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results