Fig. 1: U1 mutations in 762 mature B-cell neoplasm whole genomes.
From: Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms
a Representation of the U1 gene and 5’ splice site (SS). b Schema of the bioinformatic algorithm to call U1 mutations from WGS (left) and classification grid for position 3 and tumors with 500 total number of reads in the tumor and normal sample (right). The four classification areas of the grid change depending on the position and total number of reads. Tumors with a large number of alternative (alt.) reads in the tumor and a very low number in the normal are considered to carry a somatic mutation (state 3, red area). Regions of uncertainty are represented in white. c Distribution of mutations along the U1 gene. The region highlighted in red (positions 3–10) corresponds to the 5’SS recognition sequence of U1. d Percentage of tumors carrying mutations within position 3–10 depicted according to the nucleotide change.
