Table 1 Proportion of deleterious SNVs and clinical variants in genes evolving under varying levels of selection intensity
From: Abundance of clinical variants in exons included in multiple transcripts
Selection intensity dN/dS | Exon inclusion level (number of transcripts in which the exon is included) | Exon inclusion ratio (proportion of transcripts in which the exon is included) | ||||
|---|---|---|---|---|---|---|
1 | 2–5 | > 5 | 0.1 | 0.2–0.5 | > 0.5 | |
Deleterious SNVs | ||||||
< 0.25 | 0.2466 (0.0006) | 0.3748 (0.0004) | 0.5155 (0.0010) | 0.1598 (0.0028) | 0.2785 (0.0010) | 0.3417 (0.0019) |
0.25–0.5 | 0.2243 (0.0008) | 0.3391 (0.0006) | 0.4538 (0.0015) | 0.1956 (0.0015) | 0.3248 (0.0006) | 0.3728 (0.0012) |
> 0.5 | 0.1972 (0.0012) | 0.2994 (0.0010) | 0.4301 (0.0026) | 0.2027 (0.0010) | 0.3666 (0.0004) | 0.4257 (0.0008) |
Clinical variants | ||||||
< 0.25 | 0.0034 (0.0001) | 0.0062 (0.0001) | 0.0116 (0.0002) | 0.0015 (0.0003) | 0.0027 (0.0001) | 0.0036 (0.0002) |
0.25–0.5 | 0.0025 (0.0001) | 0.0041 (0.0001) | 0.0065 (0.0002) | 0.0018 (0.0002) | 0.0041 (0.0001) | 0.0044 (0.0002) |
> 0.5 | 0.0016 (0.0001) | 0.0028 (0.0001) | 0.0056 (0.0004) | 0.0034 (0.0001) | 0.0059 (0.0001) | 0.0079 (0.0002) |