Fig. 2: In vitro deletion of 16p11.2 causes decreased average expression of neuronally expressed 16p genes. | Nature Genetics

Fig. 2: In vitro deletion of 16p11.2 causes decreased average expression of neuronally expressed 16p genes.

From: Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Fig. 2: In vitro deletion of 16p11.2 causes decreased average expression of neuronally expressed 16p genes.The alternative text for this image may have been generated using AI.

a, Experimental design of 16p11.2 in vitro deletion resource. The iPSCs undergo CRISPR–Cas9-mediated deletion of the 16p11.2 CNV locus, differentiation into induced neurons and transcriptome profiling with RNA-seq (n = 7 biological replicates). Differential expression analysis compares these samples with controls (n = 6 biological replicates) without deletion of the locus. b, Differential expression of neuronally expressed genes on 16p (n = 200 genes) after deletion of the 16p11.2 locus (neuronally expressed is defined as above-median normalized expression level of genes over all samples in analysis of induced neurons). FC, fold-change. Genes in the deletion region ±0.1 Mb are green, whereas all other genes on 16p are in blue. The y axis is the log2(fold-change) per gene. c, The 16p11.2 deletion causing decreased expression of neuronally expressed genes on 16p (n = 200 genes), but not of all other neuronally expressed genes in the genome (n = 8,533 genes). Point estimates are of mean differential expression t-statistic for the group of genes ± s.e.m. The P value is from two-sided, two-sample Student’s t-test comparing groups.

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