Table 1.
Location of cryptic or de novo 3′ss | |||||
---|---|---|---|---|---|
Exon | Intron | Both | |||
Mutation in 3′YAG (cryptic) | Mutation outside 3′YAG (‘de novo’) | Mutation in 3′YAG (cryptic) | Mutation outside 3′YAG (‘de novo’) | All mutations | |
Number of genes | 54 | 25 | 23 | 56 | 131 |
Number of cryptic and de novo 3′ ss (per cent) | 88 (39) | 32 (14) | 29 (13) | 78 (34) | 227 (100) |
Number of unique 3′ss (per cent) | 83 (38) | 29 (13) | 28 (13) | 78 (36) | 218 (100) |
Number of aberrant 3′ss affecting terminal exons (per cent) | 11 (13) | 4 (14) | 8 (29) | 4 (5) | 27 (12) |
Median distance (nucleotide) between authentic and aberrant 3′ss | 12 | 55 | −44 | −14 | 1 |
Change in the reading frame for unique aberrant 3′ss | |||||
0 | 29 | 10 | 8 | 27 | 74 |
+1 | 38 | 7 | 13 | 26 | 84 |
+2 | 21 | 15 | 8 | 25 | 69 |