Figure 1.

Expression of H3.3K36M mutant protein in distinct cells leads to different effects on RNA splicing. Expression of H3.3K36M mutant protein in 293T cells (B) but not T/C28a2 cells (A) leads to increase in splicing defects. (C) The chondroblastoma tissue samples with H3.3K36M mutation showed the similar RNA splicing pattern as the wild type bone tissues. The annotation of the splice junction in different RNA-seq data sets was indicated in the figure. The genes from Ensembl, GENECODE, UCSC, and RefSeq were combined and used as a reference gene model. Known: the junction is part of the gene model; complete_novel: complete new junction; partial_novel: one of the splice junction (SJ, either 5SJ or 3SJ) is new, while the other splice junction is annotated (known).