Fig. 1: BCL11A genomic variants.

BCL11A genomic variants annotated to MANE select BCL11A-XL (A), BCL11A-L (B) and BCL11A-S (C) isoforms. Stop gain: red square; frameshift: red triangle, with downstream premature termination codon as small red square; missense variants: yellow triangle; splice variants: light blue triangle. Light blue outline on red triangle: frameshift and potential splice variant ClinVar_VCV000987092.1; light blue outline on yellow triangle: missense and potential splice variant ClinVar_VCV000987093.1 (see Supplementary Table 2). Green: C2H2 DNA binding zinc finger domains. Dark gray bars: regions of predicted NMD escape by “start proximal” and “last exon junction” mechanisms. Purple bar: region of putative interaction with TBR1 (den Hoed et al. [37]). This figure was generated in collaboration with the Decipher team (https://deciphergenomics.org).