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Results for ATXN1


Expand for information on ATXN1

ATXN1

Description
ataxin 1
Aliases
ATX1, D6S504E, SCA1

Gene Identifiers

Entrez ID
6310
Ensembl Gene ID

mRNA Identifiers

RefSeq (mRNA)

Protein Identifiers

RefSeq (protein)
Uniprot ID
Ensembl protein ID

Protein Architecture

SMART
domain composition

Disease Mapping

COSMIC
cancer mutations
OMIM
601556
Pubmed
Literature

Druggability

DGIdb
drugs
STITCH
compound interactions
CTD
interacting chemicals

Driver Information

  • Candidate cancer driver
  • Damaged in 58/7921 TCGA samples
  • Damaged in 27/1291 cell lines

Evolutionary Conservation

  • Metazoans

Gene Duplication

  • No duplicate (60% coverage)

Gene Expression in Tissues

Gene Expression in Cell Lines

Protein Expression in Tissues

Protein Interactions

  • Interacts with 298 protein(s)
  • Part of at least one complex

miRNA Interactions

  • Interacts with 134 miRNAs

Germline Variation vs. Expected

  • Fewer loss of function mutations
  • Equal damaging SNVs/indels
  • Fewer structural variants

Gene Essentiality

  • Essential in 8/1064 cell lines

Gene Function

  • 2/6 level 1 KEGG pathways
  • Not present in Reactome

Drug Target/Biomarker

  • Targeted by 0 drugs
  • Response/resistance in 0 cell lines
  • Response/resistance in 0 trials