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The discrepancies we considered included: (i) divergence of the sequence from conserved core blocks that might indicate badly predicted exons, (ii) insertions that may be due to introns predicted to be coding, (iii) deletions that may be due to missing exons and (iv) potential start and stop site mispredictions.
Current genome assemblies have several thousands of gaps, causing bad gene model predictions due to missing exons and splice sites.
Performing a global alignment where the aligned symbols are the exons, there cannot be internal gaps (missing exons) and aligned exons must have the same phase.
Protein sequence comparisons of TipE gene family members and orthologues of CG18675 revealed several annotation errors including missing exons and split gene models.
This extreme TR-coverage (50%) reflects the fact that almost half of N. vectensis proteins are marked as fragments due to missing exons (and failures of genome prediction tools).
As many genes predicted within GenBank are produced by automated processes and have been shown to contain numerous errors such as missing exons and wrong predictions of start and termination sites, all cDNA sequences for the described slc1 genes were annotated manually.
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In RefSeq, 62 LK genes were not found; 41 LK genes were truncated or had missed exons; and 64 gene annotations were wrong (Table 1 and S2).
Compared with our results, 59 LK gene-coding regions predicted in RAP-DB contained introns; 39 genes were truncated or had missed exons; and 31 genes had one or more other errors in their annotations (Table 1 and S2).
We also corrected several erroneous predictions (e.g. missed exons) and identified one gene that was not predicted at all.
Two alternatively spliced isoforms of Dp71, both missing exons 71 and 78 and one also missing exons 72 74 have been identified in human foetal neural tissue and both are regulated during human neural development [40].
Splice variants missing Exons 3 and 5 are occasionally found, but Exons 4 and 8 are present in all variants sequenced thus far [ 22].
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