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 |