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Gene : APEX1 Homo sapiens

Name  ? apurinic/apyrimidinic endodeoxyribonuclease 1 Cytological Location  14q11.2
Brief Description  apurinic/apyrimidinic endodeoxyribonuclease 1
description  Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
  • synonyms:
  • REF1,
  • APE,
  • uc001vxi.4,
  • APX,
  • HAP1,
  • NM_001641,
  • APE1,
  • OTTHUMG00000029544,
  • APEX,
  • APEN,
  • REF1,
  • REF-1,
  • APE,
  • HAP1,
  • APEX nuclease (multifunctional DNA repair enzyme),
  • APE-1,
  • HGNC:587,
  • APEX nuclease (multifunctional DNA repair enzyme) 1,
  • APEX1,
  • APX,
  • APEN,
  • X59764,
  • APEX
  • identifiers:
  • 328,
  • ENSG00000100823,
  • APEX1

Genome feature

Region: gene ? Length: 2642  
Location: 14:20455131-20457772 Cyto location: 14q11.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

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]

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

77 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results