Figure S2.

ANKRD26 duplication-inversion-duplication, not promoter variants, cause ANKRD26 overexpression, leading to a suppression of platelet signatures and activation of signatures indicative of monocytes. (A) Integrated Genomics Viewer was used to show that affected individuals harbor no variants in the ANKRD26 promotor, which might explain the thrombocytopenia phenotype. (B) RidgePlot of gene expression profiles of the log₂ fold change (FC) distributions of core genes in the top 20 most significantly enriched gene sets for affected individuals versus unaffected controls. Gene sets were limited to the biological process ontology. Distributions are colored by gene set enrichment Benjamini-Hochberg­–adjusted P values (p.adjust). (C) Core genes for three platelet-associated biological processes show consistent downregulation in affected individuals versus unaffected controls. (D) Core genes for the myeloid leukocyte biological processes show consistent upregulation in affected individuals versus unaffected controls.