Fig. 2: Discovery of THE1B fusion transcripts associated with SM.
a Sashimi plot for THE1B/CIR1 that are alternatively spliced from THE1B element (is indicated in blue line) within intron 7 of CIR1 (in red) in SM, but not in non-SM (in light blue). Common exons of THE1B/CIR1 and CIR1 are indicated in purple. Genomic structures of THE1B/CIR and CIR1 are also shown below the Sashimi plots. b Each dot denotes the expression level (transcripts per million) of THE1B/CIR in individuals. Red dots denote the expression level in SM individuals (n = 16), and blue dots denote the expression level in non-SM (n = 400). The adjusted P values (Padj) were calculated by a two-sided Wald test and Benjamin-Hochberg correction. The gray bar indicates the mean value. Error bar means the standard deviation value. Source data are provided as a Source Data file. c Volcano plot showing each highly expressed THE1B (red) fused with neighbor exons of human genes (Padj < 0.05, log2FC > 2). The adjusted P values (Padj) were calculated by a two-sided LRT test and Benjamin-Hochberg correction. Source data are provided as a Source Data file. d Each dot denotes the expression level (transcripts per million) of THE1B/CIR in individuals. Blue dots denote the expression level before the tofacitinib treatment, and yellow dots denote the expression level after the tofacitinib treatment. “Pre” and “Post” are indicated measurements before and during treatment, respectively. “CR,” “PR,” and “HC” are indicated as complete responders to tofacitinib treatment (n = 3), partial responders to tofacitinib treatment (n = 3), and healthy controls (n = 2), respectively. The gray bar indicates the mean value. Error bar means the standard deviation value. The adjusted P-values (Padj) were calculated by two-sided LRT and Benjamin-Hochberg correction. Source data are provided as a Source Data file. e Measurement of discrimination ability of each THE1B fusion transcript by ROC-AUC curve.
