Sentences with word «exonic»

To identify segments across the intronic and exonic regions of the BRCA1 or BRCA2 genes associated with different breast vs ovarian cancer risks, we created bins of mutations by base pair location (Figure 1).

Cáceres, E.F, Hurst, L.D. (2013) The evolution, impact and properties of exonic splice enhancers.

Notably, the de novo mutation rates in this study were higher in exonic regions regardless of the paternal age.

Whole - genome sequencing is the natural next step: it can survey exonic regions that are poorly captured, and be used to detect structural variants.

The ability of Nanopore sequencing to define the complete exonic structure of CACNA1C allows us to identify known and novel gene isoforms, including novel exons and multi-exonic skipping events and their expression across multiple brain regions.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Features were derived from the Gencode annotation v1926, including the number of projected (non-redundant exonic regions) exons, length of the coding regions, overall length of the gene, biotype.

In this study, the authors examined whether the transcription initiation region (TIR) and exonic sequences were conserved for each class of lncRNA gene, using mRNAs as a comparator.

The tool help studying intronic and exonic mutations affecting pre-mRNA splicing signals acceptor / donor splice sites as well as branch points or auxiliary splicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing Silencers (ESS).

In addition to upregulating HDR, NHEJ must be downregulated to prevent the introduction of new mutations by CRISPR; editing exonic regions comes with much more risk than the intronic editing used in the exon skipping approaches here.

In general, exonic regions from all three lncRNA categories were less conserved by comparison.

Overall, 1.22 % of mutations were exonic, an enrichment of 28.7 % over simulated models of random mutation distribution.

Divergent p - lncRNAs showed high conservation for the TIR (75 %) and a reasonable amount for the exon (54 %), but remember that their «exonic» portion, by definition, is immediately upstream of an mRNA core promoter.

Classic mRNAs, as expected, show conservation at both the TIR and the exonic portions.

The image to the right (adapted from Figure 1c) shows the proportion of transcription initiation regions (Y - axis) and exonic regions (X-axis) that overlap GERP - predicted conserved sequences for mRNAs (red), divergent p - lncRNAs (purple), intergenic p - lncRNAs (blue), and enhancer - lncRNA (green).

Despite their relatively low abundance, 1,180 (94.48 %) of all the OR genes have at least one fragment mapped to their exonic region.

Wu, X., Tronholm, A., Fernández Cáceres, E., Tovar - Corona, J.M., Chen, L., Urrutia, A.O., Hurst, L.D. (2013) Evidence for deep phylogenetic conservation of exonic splice - related contraints: splice - related skews at exonic ends in the brown alga Ectocarpus are common and resemble those seen in humans.

This condition, which was originally described in Norwegian Elkhounds [9], and was first mapped more than 10 years ago [10] is caused by an exonic SINE insertion in the gene STK38L [11].