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Table 3 Pearson’s linear correlation coefficient between the vIP of the wild-type nucleotide motifs and their normalized SBS frequency in the different gene regions

From: Relation between DNA ionization potentials, single base substitutions and pathogenic variants

X Doublets XN Triplets NXN Quadruplets NXNN Quintuplets NNXNN Sextuplets NNXNNN
Missense mutations in exons
All -0.39 -0.39 \(\phantom {\dot {i}\!}{~}_{(<0.05)}\) -0.35 (<0.01) -0.34 \(\phantom {\dot {i}\!}{~}_{(<10^{-13})}\) -0.31 \(\phantom {\dot {i}\!}{~}_{(<10^{-51})}\)
G -0.23 -0.54 \(\phantom {\dot {i}\!}{~}_{(<0.05)}\) -0.36 \(\phantom {\dot {i}\!}{~}_{(<0.01)}\) -0.32 \(\phantom {\dot {i}\!}{~}_{(<10^{-6})}\) -0.32 \(\phantom {\dot {i}\!}{~}_{(<10^{-13})}\)
C -0.81 -0.71 (<0.005) -0.59 \(\phantom {\dot {i}\!}{~}_{(<10^{-5})}\) -0.54 \(\phantom {\dot {i}\!}{~}_{(<10^{-14})}\) -0.48 \(\phantom {\dot {i}\!}{~}_{(<10^{-56})}\)
A 0.77 0.55 \(\phantom {\dot {i}\!}{~}_{(<0.05)}\) 0.39 \(\phantom {\dot {i}\!}{~}_{(<0.001)}\) 0.36 \(\phantom {\dot {i}\!}{~}_{(<10^{-6})}\) 0.23 \(\phantom {\dot {i}\!}{~}_{(<10^{-17})}\)
T -0.06 0.18 -0.05 -0.03 -0.07
Synonymous mutations in exons
All -0.48 -0.42 \(\phantom {\dot {i}\!}{~}_{(<0.005)}\) -0.39 \(\phantom {\dot {i}\!}{~}_{(<10^{-8})}\) -0.38 \(\phantom {\dot {i}\!}{~}_{(<10^{-29})}\) -0.34 \(\phantom {\dot {i}\!}{~}_{(<10^{-109})}\)
G -0.65 -0.67 (<0.005) -0.50 (<0.00005) -0.42 \(\phantom {\dot {i}\!}{~}_{(<10^{-14})}\) -0.33 \(\phantom {\dot {i}\!}{~}_{(<10^{-32})}\)
C -0.80 -0.68 (<0.05) -0.54 \(\phantom {\dot {i}\!}{~}_{(<0.005)}\) -0.53 \(\phantom {\dot {i}\!}{~}_{(<10^{-13})}\) -0.50 \(\phantom {\dot {i}\!}{~}_{(<10^{-50})}\)
A -0.59 0.02 -0.09 0.00 -0.05
T -0.87 0.00 -0.21 -0.17 (<0.05) -0.13 (<0.0005)
Mutations in introns
All -0.39 -0.42 (<0.005) -0.38 \(\phantom {\dot {i}\!}{~}_{(<10^{-5})}\) -0.36 \(\phantom {\dot {i}\!}{~}_{(<10^{-24})}\) -0.33 \(\phantom {\dot {i}\!}{~}_{(<10^{-78})}\)
G -0.27 -0.51 (<0.05) -0.36 \(\phantom {\dot {i}\!}{~}_{(<0.05)}\) -0.31 \(\phantom {\dot {i}\!}{~}_{(<10^{-6})}\) -0.23 \(\phantom {\dot {i}\!}{~}_{(<10^{-11})}\)
C -0.78 -0.70 (<0.05) -0.61 \(\phantom {\dot {i}\!}{~}_{(<10^{-7})}\) -0.55 \(\phantom {\dot {i}\!}{~}_{(<10^{-20})}\) -0.54 \(\phantom {\dot {i}\!}{~}_{(<10^{-83})}\)
A 0.80 0.67 (<0.05) 0.45 (<0.01) 0.22 (<0.005) 0.09 \(\phantom {\dot {i}\!}{~}_{(<10^{-8})}\)
T 0.07 0.41 0.34 \(\phantom {\dot {i}\!}{~}_{(<0.005)}\) -0.09 -0.11
Mutations in UTRs
All -0.43 -0.39 (<0.05) -0.35 (<0.005) -0.34 \(\phantom {\dot {i}\!}{~}_{(<10^{-16})}\) -0.32 \(\phantom {\dot {i}\!}{~}_{(<10^{-57})}\)
G -0.18 -0.47 -0.31 \(\phantom {\dot {i}\!}{~}_{(<0.05)}\) -0.25 (<0.01) -0.16 (<0.0001)
C -0.79 -0.71 (<0.05) -0.60 (<0.0001) -0.57 \(\phantom {\dot {i}\!}{~}_{(<10^{-20})}\) -0.53 \(\phantom {\dot {i}\!}{~}_{(<10^{-67})}\)
A 0.60 0.64 (<0.01) 0.54 \(\phantom {\dot {i}\!}{~}_{(<0.05)}\) 0.49 \(\phantom {\dot {i}\!}{~}_{(<10^{-11})}\) 0.28 \(\phantom {\dot {i}\!}{~}_{(<10^{-15})}\)
T -0.13 0.33 -0.02 0.00 -0.04
  1. X indicates the position of the mutated nucleobase and N any base. The correlation coefficients that are statistically significant and for which the null hypothesis is rejected are underlined, with the P-values below α=0.05 reported in parentheses. Note that the increase in sample size, from doublet to sextuplet motifs, also contributes to the increase of the statistical significance of the correlation