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SFARI Gene

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

The site provides several ways of accessing data on autism candidate genes:

  • Human Gene Module lists more than 740 genes implicated in autism, with annotations and links to published papers.
  • Animal Model Module lists more than 733 lines of mice that carry mutations in the genes listed in the Human Gene Module, in ASD-associated copy number variants (CNVs), or have been induced by biological or chemical agents. Of note, 48 of these mouse models were treated with drugs to rescue at least one ASD-related phenotype.
  • Protein Interaction (PIN) Module curates all protein-protein and protein-nucleic acid interactions reported in the literature.
  • Copy Number Variant (CNV) Module provides exhaustive detail on all CNVs reported in individuals with autism.
  • Gene Scoring Module offers critical evaluation of the strength of the evidence for each gene’s association with autism. These gene scores are increasingly being used in the published literature1-9. At least 40 high-ranking candidate risk genes (see Table 1) have so far been identified.


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Table 1. Highest ranking candidate autism risk genes (ranked
according to SFARI Gene Scoring Module)                              


References:

1. Wang T. et al. Hum. Mol. Genet. 21, 5500-5510 (2012) PubMed

2. Parikshak N.N. et al. Cell 155, 1008-1021 (2013) PubMed

3. Jacquemont S. et al. Am. J. Hum. Genet. 94, 415-425 (2014) PubMed

4. Toma C. et al. Mol. Psych. 19, 784-790 (2014) PubMed

5. Sugathan A. et al. Proc. Natl. Acad. Sci. USA 111, E4468-4477 (2014) PubMed

6. Griswold A.J. et al. Mol Autism 6, 43 (2015) PubMed

7. Strong E. et al. Am. J. Hum. Genet. Epub ahead of print (2015) PubMed

8. Wilkinson B. et al. Transl. Psychiatry 5, e568 (2015) PubMed

9. Yao P. et al. Nat. Neurosci. 18, 1168-1174 (2015) PubMed