Table 4.
Site and Mutation Class | Initial Counta | CpGb | Non-CpG | Effective Countc | |
---|---|---|---|---|---|
Functional | Nonsynonymous bases | 96,065,492 | 2,689,834 | 93,375,658 | 120,273,996 |
Nonsynonymous DNMs | 6 | 3 | 3 | 6 | |
Neutral | Synonymous bases | 61,481,915 | 1,721,494 | 59,760,421 | 76,975,357 |
Intronic bases | 218,145,769 | 2,181,458 | 215,964,311 | 237,778,888 | |
Silent (synonymous and intronic) DNMs | 4 | 2 | 2 | 4 | |
p value | One-tail binomial testd | 0.003 | 0.161 | 0.031 | 0.008 |
Fisher's exact test | 0.022 | 0.4041 | 0.1067 | 0.032 |
All statistics are calculated with base pairs and DNMs calculated for only trios with unaffected families.
Estimated 2.8% of initial coding sites and 1% of initial intronic sites are CpG sites.
To account for increased mutation rates: (non-CpG sites) + (10 × CpG sites).
P(× ≥ number of functional DNMs | nonfunctional rate).