Fig. 6: Tissue-specific splice alteration analysis for jointly profiled WES and RNA-seq data from patients with DN.
From: SpliceTransformer predicts tissue-specific splicing linked to human diseases
a Overview of DN patients involved and samples collected for SpTransformer prediction and RNA-seq-based validation. b Flow chart showing the filtering steps of kidney-specific splicing variants for variants called directly from WES data. c, d Examples of heterozygous variants predicted as kidney-specifically splice altering validated by matched renal tubule RNA-seq. SpTransformer prediction on WES identified variants (upper) and sashimi plot of matched RNA-seq data (lower) for CLCNKA (c) and BTN3A2 (d) gene. e Top ten GO terms enriched from genes harboring kidney-specific splicing SNVs. f Top ten terms enriched in the DisGeNet database from genes harboring kidney-specific splicing SNVs. a Created with BioRender.com, was released under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International license.
