Fig. 5. Deletions and duplications in RUNX1 affecting RUNT domain exons.
a Genomic regions with SVs at the RUNX1 locus (arcs) with cumulative numbers of SV intervals at each position (bottom). RUNX1 is transcribed from the negative strand. RUNT domain and enhancers, from H3K27Ac data, in grey, and promoters in red. b Exon expression of RUNX1-202 (ENST00000344691) for with tumours with alterations in RUNX1 (red) and no alterations (grey). Read counts were normalized to length of exons. *, *** denotes p ≤ 0.05 and p ≤ 0.001 respectively. Gene structure for RUNX1-202 shown as it was determined to be highest expressed transcript by GTEx and in the cohort of 214 tumours. No transcription from promoter 1 was detected.