SFARI Gene: New data release

April 28, 2017

New data were added to SFARI Gene in March 2017. This data release included updated gene scores for candidate autism risk genes, new animal models, and new 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 March 2017.

Some of the highlights of this data release include:

Four genes (KATNAL2, NAA15, RELN and TRIP12) were added to Category 1 of the Gene Scoring Module. Two genes (SCN9A and TNRC6B) were added to Category 2. This brings the total number of autism-risk genes with strong evidence to 65 (i.e., Categories 1 and 2 ranked genes).
Seven genes (CNKSR2, HIVEP3, PARD3B, PLXNB1, SLC7A5, SRCAP, and ZC3H4) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 144.
1 novel copy number variant (CNV) loci was added to the CNV Module, bringing the total number of CNV loci to 2,173.
The mouse model dataset has been updated with 62 new models.
The rat model dataset has been updated with 35 new models.