SFARI Gene: New data release

January 20, 2017

New data were added to SFARI Gene in December 2016. 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 December 2016.

Some of the highlights of this data release include:

Three genes (CUL3, DSCAM, MYT1L) were added to Category 1 of the Gene Scoring Module. Seven genes (GIGYF2, MBOAT7, MECP2, NCKAP1, RIMS1, TRIP12, WDFY3) were added to Category 2. This brings the total number of autism-risk genes with strong evidence to 62 (i.e., Categories 1 and 2 ranked genes).
Five genes (CUX1, DOCK8, GPC4, KCNJ10, WWOX) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 139.
11 novel copy number variant (CNV) loci were added to the CNV Module, bringing the total number of CNV loci to 2172.
The mouse model dataset has been updated with 48 new models.
The rat model dataset has been updated with 43 new models.