Table 2.
Weaker selection across the human genome (based on INSIGHT).
Feature | ρ | ± (stderr) | no. sites (M) | prop. sites | exp. no. (M)a | exp. prop.b | fold enrich. | exp. del.c |
---|---|---|---|---|---|---|---|---|
CDS | 0.624 | 0.020 | 33.8 | 1.18% | 19.7 | 21.5% | 18.2 | 0.47 |
5 UTR | 0.222 | 0.035 | 8.2 | 0.29% | 1.5 | 1.6% | 5.6 | 0.04 |
3 UTR | 0.237 | 0.033 | 36.1 | 1.26% | 7.0 | 7.7% | 6.1 | 0.17 |
splice | 0.883 | 0.013 | 0.8 | 0.03% | 0.7 | 0.7% | 26.3 | 0.02 |
nonconserved lncRNAd | 0.025 | 0.020 | 453.6 | 15.78% | 0.0 | 0.0% | 0.0 | 0.00 |
conserved lncRNAe | 0.412 | 0.019 | 23.3 | 0.81% | 8.6 | 9.4% | 11.6 | 0.21 |
nonconserved intrond | 0.042 | 0.022 | 972.6 | 33.83% | 0.0 | 0.0% | 0.0 | 0.00 |
conserved introne | 0.426 | 0.019 | 44.3 | 1.54% | 17.0 | 18.5% | 12.0 | 0.41 |
nonconserved intergenicd | 0.059 | 0.036 | 1255.5 | 43.67% | 21.7 | 23.6% | 0.5 | 0.52 |
conserved intergenice | 0.376 | 0.020 | 46.9 | 1.63% | 15.7 | 17.0% | 10.4 | 0.38 |
Total | 2875.1 | 100.00% | 91.9 | 100.0% | 2.21 |
aExpected number of deleterious sites after adjusting for background. In this case, the estimate for nonconserved introns (0.022) was subtracted from each estimate of ρ.
bExpected proportion of deleterious sites after adjusting for background.
cExpected number of new deleterious mutations per diploid individual, assuming a mutation rate of 1.2 × 10−8 per generation per site.
dSites not classified as conserved by phastCons.
eSites classified as conserved by phastCons.