Figure 2.

Changes in predicted binding profile for a guanine-to-thymine mutation at position +29 of ENST00000373379, a transcript of UPRT, uracil phospho-ribosyltransferase. (Green lines) Probability of eight individual TFs binding to the reference sequence, or the probability that a region is unbound (upper right panel). The names above the TF binding panels refer to JASPAR PWM names, and the corresponding Human Genome Organization Nomenclature Committee (HGNC) symbols are contained in Supplemental Table 1. (Orange lines) Probability that a TF binds the mutated sequence. These displayed changes, when added to smaller changes for other TFs, represent a binding shift t of 124.8 (see Results and Methods).

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