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. 2024 May 3;5(5):101529. doi: 10.1016/j.xcrm.2024.101529

Figure 4.

Figure 4

Gene enrichments stratified by distance from head size lead variants

(A) Enrichment of OMIM macro- and microcephaly genes and COSMIC tier 1 genes near identified genetic loci. Depicted are enrichments of genes within 1 Mb (orange), 100 kb (purple), or 10 kb (pink) of identified genetic loci, genes with intragenic genetic variants (light green) and genes with intragenic genetic lead variants (yellow) in comparison with genes in the reference genome (dark green). ∗p < 0.05; ∗∗p < 0.0125 (0.05/4); ∗∗∗p < 0.0025 (0.05/4/5).

(B) Violin plots showing DOMINO autosomal dominance scores of different gene sets. ∗p < 0.05; ∗∗p < 0.01; ∗∗∗p < 0.001.

(C) Venn diagram showing genes within 10 kb of genetic loci that overlap with OMIM microcephaly genes (yellow) or macrocephaly genes (green) or COSMIC cancer tier 1 genes (red). Genes with intragenic lead variants are depicted in black, others in gray.

(D) Bar plot showing enrichments of gene sets for genes differentially expressed in neurons and progenitors. ∗p < 0.05; ∗∗p < 0.025 (0.05/2); ∗∗∗p < 0.003 (0.05/2/8).

(E) Bar plots showing enrichments of gene sets for the various cell types in the human cortical brain using single-cell RNA-sequencing data. ∗p < 0.05; ∗∗FDR < 0.05; ∗∗∗p < 0.0007 (0.05/9/8).