This intersection included several genes involved in the regulation of RNA splicing, with known splicing variants (Fig. 4G): Ranbp2, a nucleoporin protein that controls alternative-splicing patterns during nuclear speckle formation (Saitoh et al., 2012); Sf3b1, a well-known splicing factor, mutations of which lead to myelodysplasia and anaemia by globally disrupted splicing (Shiozawa et al., 2018; Mupo et al., 2017); and Smg1, which is mutated in acute myeloid leukaemia, its depletion resulting in disruption of alternative splicing (McIlwain et al., 2010; Du et al., 2014). This evidence concerns the gene RANBP2 and anemia (phenotype).