Table 2 Weaker selection across the human genome (based on INSIGHT).

From: Extreme purifying selection against point mutations in the human genome

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\(^{\prime}\) UTR

0.222

0.035

8.2

0.29%

1.5

1.6%

5.6

0.04

3\(^{\prime}\) 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

  1. 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.
  2. bExpected proportion of deleterious sites after adjusting for background.
  3. cExpected number of new deleterious mutations per diploid individual, assuming a mutation rate of 1.2 × 10−8 per generation per site.
  4. dSites not classified as conserved by phastCons.
  5. eSites classified as conserved by phastCons.