FigureĀ 6.
Functional consequences of rare ERG variants. Rare ERG variants from similar phenotypic groups, including BMF and/or HM and lymphedema, among population variants (gnomAD >200),38 a germ line thrombocytopenic mouse variant,1 a paralogous ETV6 pathogenic variant (thrombocytopenia),49 and Catalogue Of Somatic Mutations In Cancer mutation (somatic)41 are mapped onto the ERG protein (isoform, NP_891548.1; transcript, NM_182918.4). Functional characterization of each variant via transactivation, DNA binding, subcellular localization, FLC myeloid differentiation, FLC cytokine independence, and leukemogenesis assays are displayed.