Figure 1.

Schizophrenia association of gene sets ranked by FMRP binding confidence in four tissue types. Data of FMRP binding were derived from crosslinking immunoprecipitation studies of mRNA targets in mouse cortex, mouse hippocampal CA1 pyramidal neurons, healthy human frontal cortex and human embryonic kidney (HEK) 293 cells. Genes were ranked by FMRP binding confidence and grouped into bins of 400 genes. Presented are -log₁₀(P), where the P-value is derived from gene set association analysis using the genetic variant type shown. CNV analyses were corrected for P-value inflation using random size-matched sets of expressed genes. Rare coding variants were derived from case-control exome sequencing studies of schizophrenia and defined as variants observed once in all sequenced samples and never in the non-psychiatric component of ExAC. Loss-of-function (LoF) variants include nonsense, splice site and frameshift mutations. Nonsynonymous (NS) variants include loss-of-function and missense variants. Dotted lines indicate a threshold for statistical significance after correction for the number of bins. SNPs, single nucleotide polymorphisms; CNVs, copy number variants.