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Gene : DNASE1 Homo sapiens

Name  ? deoxyribonuclease 1 Cytological Location  16p13.3
Brief Description  deoxyribonuclease 1
Description  This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
  • synonyms:
  • DNL1,
  • uc002cvu.4,
  • deoxyribonuclease I,
  • DRNI,
  • NM_001351825,
  • HGNC:2956,
  • OTTHUMG00000129426,
  • DNASE1,
  • DNL1
  • identifiers:
  • 1773,
  • ENSG00000213918,
  • DNASE1

Genome feature

Region: gene ? Length: 53736  
Location: 16:3611737-3665472 Cyto location: 16p13.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Expression

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

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Gene --> GO terms.

 

Other

0 Pathways

867 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results