SFARI Gene: New Data Release

August 17, 2018

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

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 August 2018.

Some of the highlights of this data release include:

A total of 12 new genes were added to the Human Gene module, bringing the total number to 1,019. In-depth annotation of 291 rare variants and 4 common variants was also completed, and 101 new references were added.

Two genes (CUX1 and LEO1) were 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 86.

Four genes (APBB1, BTAF1, RAI1 and TANC2) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 179.

Eight novel copy number variant (CNV) loci were added to the CNV module, resulting in a total of 2,250 CNV loci.

The animal models dataset has been updated as follows:
- Mouse models: 27 new models and 32 new rescue models were added, as well as updated annotations on 10 existing models.
- Rat models: 6 new models and 6 rescue models were added, as well as updated annotations on 3 existing models.
- Zebrafish models: 44 new models and 37 new rescue models were added.
- Drosophila models: 53 new models and 38 new rescue models were added.

More detailed information is available here.