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、...
(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...
Splice site variant alleles can also exhibit diminished enzyme activity; by modifying the way in which introns are assembled, the resulting transcript is radically changed, as is the expressed protein. Allelic variation in the regulatory region of a gene can change the transcription level of that ...
A database (SpliceDB) of known mammalian splice site sequences has been developed. We extracted 43 337 splice pairs from mammalian divisions of the gene-centered Infogene database, including sites from incomplete or alternatively spliced genes. Known EST sequences supported 22 815 of them. After...
Titin population splice site/region allele frequency spectrum.Oyediran, AkinrinadeJuha, W. KoskenvuoTeroPekka, Alastalo
Waardenburg Syndrome (WS) is a syndromic form of hearing loss associated with mutations in six different genes. We identified a large family with WS that had previously undergone clinical testing, with no reported pathogenic mutation. Using linkage analysis, a region on 3p14.1 with an LOD score ...
Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current method can reliably predict whether exon-skipping, cryptic activation or multiple events will result, greatly complicating clinical interpretation of pa
Fig. 3. CGR of Human beta globin region on Chromosome 11 (HUMHBB). 2.3. Dataset NN269 dataset has been extracted from 269 human genes as a benchmark splice site dataset [30]. It consists of 1324 true donor splice sites, 4922 false donor splice sites, 1324 true acceptor sites, and 555...
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 ...
The electrostatic properties of the coited-coil region of mouse kinectin. together with the relative frequencies of residues in particular positions within the heptad repeats support this notion. 展开 关键词: cDNA clones coiled-coil protein kinectin microtubule protein variants ...