Splice_region: 变异发生在splice site区域内或者外显子的1-3碱基处或者内含子的3-8碱基处 Splice_Site return "Splice_Site" if( $effect =~ /^(splice_acceptor_variant|splice_donor_variant|transcript_ablation|exon_loss_variant)$/ ); Splice_Site 又细分到splice_acceptor_variant、splice_donor_variant、...
Smith,L.D., Lucas,C.M. and Eperon,I.C. (2013) Intron retention in the alternatively spliced region of RON results from weak 3′ splice site recognition. PLoS One, 8, e77208.Smith LD, Lucas CM, Eperon IC. Intron retention in the alternatively spliced region of RON results from weak ...
In addition, true-positive and false positive Top-4* events show no difference in the length of the spliced-out region for exon-skipping events (Extended Data Fig. 7h) or cryptic distance (Extended Data Fig. 7i). We identified one false positive that may be due to alignment issues in ...
The possibility that the RNP rearrangement induced by RBM5 leads to decreased association of U2AF with the 3′ splice site region was analyzed. Crosslinking/immunoprecipitation experiments indicated that RBM5 increased, rather than decreased, U2AF65 crosslinking to Fas exon 6 3′ splice site, both...
1= Acceptor site 2= Negative example (non-splice site region) transcript: This column contains detailed transcript information, including the identifier for the transcript and potentially the chromosome number. The sequences themselves are extracted from FASTA files based on the coordinates provided in...
each representing a genomic region of ~64,000 bp. Tests on real and simulated data sets showed that HISAT is the fastest system currently available, with equal or better accuracy than any other method. Despite its large number of indexes, HISAT requires only 4.3 gigabytes of memory. HISAT sup...
site-specific cross-linking strategy to identify RNA and protein factors that interact with the 5' splice site region during mammalian pre-mRNA splicing. Two different pre-mRNA substrates were synthesized with a single 32P-labeled 4-thiouridine residue 2 nucleotides upstream of the 5' splice site....
site region from the first intron that was precipitated.N = 3 independent experiments. Error bars show mean values ± SD. Asterisk indicates for WTP = 0.006 and for ASOP = 0.005, two-tailedt-test.eSchematic overview of our CRISPR interference-based protocol. Cells are co-...
Our experiments indicate that there are strong context effects that influence splicing efficiency and relative splice site strength. Cis-competition experiments showed that the context effects are not only local, as the source of the 3′ splice site region influences 5′ splice site selection and ...
(promoter region, splice sites, start and stop codons, 3' untranslated region) together with the statistical properties of coding sequences (coding ... L Milanesi,D D'Angelo,IB Rogozin - 《Bioinformatics》 被引量: 116发表: 1999年 The impact of splice isoforms on voltage-gated calcium channel...