Table 1.
Enrichment of protein-altering de novo mutations in 132 subjects with sagittal and/or metopic craniosynostosis.
DOI: http://dx.doi.org/10.7554/eLife.20125.004
Table 1—source data 1. De novo mutations in 132 trios with sagittal and/or metopic craniosynostosis.
Mutations highlighted in orange are likely loss of function mutations, those highlighted in blue are likely damaging missense mutations (D-mis) as called by MetaSVM, and those without highlight are predicted to be tolerated (T-mis) or are synonymous (syn).
elife-20125-table1-data1.xlsx (63.5KB, xlsx)
DOI: 10.7554/eLife.20125.005
| Observed | Expected | Enrichment | p-value | |||
|---|---|---|---|---|---|---|
| Class | # | #/subject | # | #/subject | ||
| All mutations | 144 | 1.09 | 142.8 | 1.08 | 1.01 | 0.47 |
| Synonymous | 21 | 0.16 | 40.4 | 0.31 | 0.52 | 3.0 × 10−4 |
| Protein altering | 123 | 0.93 | 102.4 | 0.78 | 1.17 | 0.03 |
| Total missense | 110 | 0.83 | 89.7 | 0.68 | 1.23 | 0.02 |
| T-mis | 82 | 0.62 | 75.2 | 0.57 | 1.09 | 0.23 |
| D-mis | 28 | 0.21 | 14.5 | 0.11 | 1.93 | 1.0 × 10−3 |
| Loss of function (LOF) | 13 | 0.10 | 12.7 | 0.10 | 1.03 | 0.50 |
| LOF + D-mis | 41 | 0.31 | 27.1 | 0.21 | 1.51 | 7.8 × 10−3 |
#, number of de novo mutations in 132 subjects; #/subject, number of de novo mutations per subject; Damaging and tolerated missense called by MetaSVM (D-mis, T-mis respectively); Loss of function denotes premature termination, frameshift, or splice site mutation. For mutation classes with enrichment compared to expectation, p-values represent the upper tail of the Poisson probability density function. For mutation classes in which we observed a paucity of mutations compared to expectation, p-values represent the lower tail.