Fig. 1: Overview of retrotrans-genomics and validation studies.
Retrotrans-genomics has a double meaning: genome-wide retrotransposon analysis and reverse genomics from retro-transcriptome to whole genome analysis. a Schematic diagram of genomic structures of CIR1 locus. Orange rectangles are shown to the exon of the gene. The green arrow shows the direction of the transcription. b Schematic diagram of full-length cDNA of a THE1B fusion transcript by Nanopore long-read seq. c Expression analysis of THE1B/CIR1 by Salmon quantification. Error bar means the standard deviation value. The adjusted P values (Padj) were calculated by a two-sided Wald test and Benjamin-Hochberg correction. Source data are provided as a Source Data file. d Retrotrans-genomics of THE1B fusion transcripts in sarcoid myopathy by COFFEE. Red blots show highly expressed THE1B elements in sarcoid myopathy by using PhenoGram64. e Schematic diagram of THE1B/DNAJC5B.1, THE1B/DNAJC5B.2 and canonical DNAJC5B. THE1B element is located 42 kb upstream from exon 1 of DNAJC5B. Brown rectangles are shown to be exons of the genes. f, g Validation studies by (f) RNA-seq data on a public database, (g) RT-qPCR. h Single-cell and single-nucleus cell RNA-seq shows the cells expressing THE1B fusion transcripts.
