New data were added to SFARI Gene in October 2017.
Some of the highlights of this data release include:
- 60 new genes, including TRAPPC6B, GRIA1, SMARCA4, were added to the Human Gene module, bringing the total number of genes to 970. In-depth annotation of 1,134 rare variants and 12 common variants was also completed, and 81 new references were added.
- 70 gene scores were added in the Gene Scoring module, including 60 newly annotated genes. Six previously scored genes (CX3CR1, FOXG1, FOXP1, HECTD4, NLGN1 and SMC3) were moved to a higher category based on recent publications.
- 12 newly curated references and 21 novel copy number variant (CNV) loci were added in the CNV module, resulting in a total of 543 curated references and 2,218 CNV loci. New references provided additional support for BCL11A, TBL1XR1 and FOXP1 as autism spectrum (ASD) risk genes and, in the cases of BCL11A and TBL1XR1, as the primary contributors to the phenotype associated with previously reported microdeletion syndromes.
- The mouse model data set was updated with six new genes (Arid1b, Cbln1, Chd5, Eef1a2, Lrfn2 and Pcdh19). Additionally, many mouse models based on high-confidence genes were added, including Chd8, Cntnap2, Fmr1, Nlgn3 and Ptchd1. 15 new rescue models were also added.
- The rat model data set has been updated with 13 new models and new data for five existing models. The data set includes three new ASD models and four existing models from existing environmental inducers (fluoxetine, lipopolysaccharide, maternal stress and valproic acid) and three models from two new inducers (BK channel blocker and BK channel opener).