SFARI Gene: New Data Release

May 1, 2018

New data were added to SFARI Gene in April 2018. This data release included updated gene scores for candidate autism risk genes, as well as the addition of new genes, animal models, and copy number variant loci associated with autism.

Autism Research Initiative (SFARI)

Colorful chromosomes spill out from a larger, multicolored sphere against a black background, representing a cell and its genetic material seen under a microscope. — Thomas Ried, NCI/Science Source Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in April 2018.

Some of the highlights of this data release include:

One gene (CHD2) was added to Category 1 and one gene (TAOK2) was added to Category 2 of the Gene Scoring Module. This brings the total number of autism-risk genes with strong evidence (ie., Categories 1 and 2 ranked genes) to 84.

10 genes (DLGAP1, DPYSL2, EMSY, GGNBP2, GRID1, JARID2, NEXMIF, OTUD7A, PRKN, TSC2) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 176.

17 novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,242 CNV loci.

The mouse model dataset has been updated with 29 new models, including Dlgap1, Kirrel3, Otud7a and Taok2 knockout mice, as well as new data for many mouse models based on high-confidence genes. Eleven new rescue models were also added.