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Gene : ATN1 Homo sapiens

Name  ? atrophin 1 Cytological Location  12p13.31
Brief Description  atrophin 1
Description  Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
  • synonyms:
  • B37,
  • DRPLA,
  • D12S755E,
  • NM_001940,
  • HGNC:3033,
  • OTTHUMG00000169015,
  • DRPLA,
  • D12S755E,
  • NOD,
  • HRS,
  • dentatorubral-pallidoluysian atrophy (atrophin-1),
  • CHEDDA,
  • U23851,
  • B37,
  • uc001qrw.2,
  • ATN1
  • identifiers:
  • 1822,
  • ENSG00000111676,
  • ATN1

Genome feature

Region: gene ? Length: 17863  
Location: 12:6924459-6942321 Cyto location: 12p13.31


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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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Interactions

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Expression

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

Gene Ontology

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Other

3756 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results