Table 1.
Ultraselection across the human genome (based on ExtRaINSIGHT).
| Feature | λs | ± (stderr)a | no. sites (M) | prop. sites | exp. no. (M)b | exp. prop.c | fold enrich. | exp. s-del.d | shet |
|---|---|---|---|---|---|---|---|---|---|
| CDS | 0.148 | 0.0004 | 33.8 | 1.18% | 4.7 | 43.5% | 36.9 | 0.11 | – |
| 5 UTR | −0.161 | 0.0006 | 8.2 | 0.29% | 0.0 | 0.0% | 0.0 | 0.00 | – |
| 3 UTR | 0.028 | 0.0002 | 36.1 | 1.26% | 0.7 | 6.2% | 5.0 | 0.02 | – |
| splice | 0.464 | 0.0012 | 0.8 | 0.03% | 0.4 | 3.3% | 121.3 | 0.01 | 2.0% |
| nonconserved lncRNAe | 0.009 | 0.0001 | 453.6 | 15.78% | 0.0 | 0.0% | 0.0 | 0.00 | – |
| conserved lncRNAf | 0.055 | 0.0003 | 23.3 | 0.81% | 1.1 | 9.8% | 12.1 | 0.03 | – |
| nonconserved introne | 0.009 | 0.0000 | 972.6 | 33.83% | 0.0 | 0.0% | 0.0 | 0.00 | – |
| conserved intronf | 0.058 | 0.0002 | 44.3 | 1.54% | 2.2 | 20.1% | 13.1 | 0.05 | – |
| nonconserved intergenice | 0.003 | 0.0000 | 1255.5 | 43.67% | 0.0 | 0.0% | 0.0 | 0.00 | – |
| conserved intergenicf | 0.048 | 0.0002 | 46.9 | 1.63% | 1.8 | 17.0% | 10.5 | 0.04 | – |
| Total | 2875.1 | 100.00% | 10.8 | 100.0% | 0.26 |
aThe similar values of the standard errors (equal after rounding) reflect the maximum of 1M sites used for estimation.
bExpected number of ultraselected sites after adjusting for background. In this case, the estimate for nonconserved introns (0.009) was subtracted from each estimate of λs (see Supplementary Table 1 for a less conservative correction).
cExpected proportion of ultraselected sites after adjusting for background.
dExpected number of new strongly deleterious mutations per diploid individual, assuming a mutation rate of 1.2 × 10−8 per generation per site.
eSites not classified as conserved by phastCons.
fSites classified as conserved by phastCons.