Fig. 1: Clonal hematopoiesis in the LBCs. | Nature Medicine

Fig. 1: Clonal hematopoiesis in the LBCs.

From: Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects

Fig. 1

a, Counts of unique events that exceeded 2% VAF across the range of the longitudinal cohorts in our panel of 75 hematopoietic genes. b, Counts of the functional consequences of the unique events listed in Fig. 1a. Missense mutations, frameshift insertions and deletions and nonsense mutations are indicated. Exact counts, n, are for each category. c, Schematic of the top seven most affected genes in the cohort with the largest clone size of an event in any given gene shown. All affected participants were clustered across all timepoints, with the point size scaled by VAF and colored by the functional consequence of the variant (as per Fig. 1b and legend). d, Clone size trajectories of all DNMT3A mutations across the time series in both LBC1921 and LBC1936 colored by the functional consequence of the variant (as per Fig. 1b,c). e, Locations of somatic mutations discovered in DNMT3A. Protein-affecting events are marked and labeled across the structure of the gene (missense in red, truncating in purple, stacked for multiple events) with the structure of the gene labeled along the amino acid length of its protein. f. Clone size trajectories of all TET2 mutations across the time series in both LBC1921 and LBC1936 colored by the functional consequence of the variant (as per Fig. 1b,c). g, The locations of somatic mutations in TET2. Protein-affecting events are marked and labeled across the structure of the protein (missense in red, truncating in purple, stacked for multiple events). h, Clone size trajectories of all JAK2 mutations across the time series in both LBC1921 and LBC1936 colored by the functional consequence of the variant (as per Fig. 1b,c). Points marked in black denote timepoints after which the affected participant received treatment for leukemia. i, The locations of somatic mutations in JAK2. Protein-affecting events are marked and labeled across the structure of the protein (missense in red, truncating in purple, stacked for multiple events). All eight JAK2 mutations are p.Val617Phe (JAK2 V617F) missense variants. del, deltion; FS, frameshift; ins, insertion.

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