Potential cryptic exons in UROS intron 9
| Exon* . | BPS coordinate† . | BPS‡ . | Δ§ . | Polypyrimidine‖ . | 5′splice score¶ . | Exon size . | ESE/kb# . | 3′splice score¶ . |
|---|---|---|---|---|---|---|---|---|
| Exon 9 | 143 | tcttgat | 22 | gttttctgttccccacag | 0.56 | 99 | 0 | 0.83 |
| CE1 | 767 | ccttgaa* | 114 | tcacctgccttctcacag | 0.53 | 281 | 3.5 | 0.65 |
| CE2 | 2089 | ctctgag* | 35 | cctcgcctcttactacag | 0.25 | 208 | 9.6 | 0.54 |
| CE3 | 4868 | ttttgaa | 53 | actttattttttcctcag | 0.33 | 148 | 13.5 | 0.80 |
| CE4 | 5566 | *atttgat | 49 | atcttttcggtttgacag | 0.69 | 246 | 28.5 | 0.95 |
| CE5 | 5719 | ccttgat | 61 | catcctccccttgatcag | 0.65 | 81 | 37.0 | 0.95 |
| Exon 10 | 6110 | tgctgaa* | 28 | tctcttctgtctttatag | 0.94 | 423 | 26.0 | Term |
| Consensus | ynytray |
| Exon* . | BPS coordinate† . | BPS‡ . | Δ§ . | Polypyrimidine‖ . | 5′splice score¶ . | Exon size . | ESE/kb# . | 3′splice score¶ . |
|---|---|---|---|---|---|---|---|---|
| Exon 9 | 143 | tcttgat | 22 | gttttctgttccccacag | 0.56 | 99 | 0 | 0.83 |
| CE1 | 767 | ccttgaa* | 114 | tcacctgccttctcacag | 0.53 | 281 | 3.5 | 0.65 |
| CE2 | 2089 | ctctgag* | 35 | cctcgcctcttactacag | 0.25 | 208 | 9.6 | 0.54 |
| CE3 | 4868 | ttttgaa | 53 | actttattttttcctcag | 0.33 | 148 | 13.5 | 0.80 |
| CE4 | 5566 | *atttgat | 49 | atcttttcggtttgacag | 0.69 | 246 | 28.5 | 0.95 |
| CE5 | 5719 | ccttgat | 61 | catcctccccttgatcag | 0.65 | 81 | 37.0 | 0.95 |
| Exon 10 | 6110 | tgctgaa* | 28 | tctcttctgtctttatag | 0.94 | 423 | 26.0 | Term |
| Consensus | ynytray |
CE indicates cryptic exons. CE4 includes CE5, as there was no 5′ splice donor sequence in this 246-bp region.
Position of the BPS adenosine in the UROS genomic sequence where base 1 = 165 bases 5′ of exon 9.
The match to the BPS consensus YNYTRAY with one allowed mismatch in the first or last position as noted with an asterisk.
Δ indicates number of bases between the branchpoint adenosine and the first base of the putative or wild-type exon.
Match to the pyrimidine tract consensus (Y14)NCAG with 4 allowed mismatches in the 14 pyrimidine residues. An exception was made for exon 10 where the consensus (Y14)NYAG was permitted.
The 5′ splice donor and 3′ splice acceptor scores ranged from 0 to 1, and the cut-offs for acceptable scores were 0.5 and 0.2, respectively.
Density of high-scoring exonic splice enhancers SC-35 and SF2 per kilobase of sequence.