Letter/Communication
Abundance of clinical variants in exons included in multiple transcripts
Human Genomics, Vol.12(1), p.33
2018
Abstract
Previous studies showed that the magnitude of selection pressure in constitutive exons is higher than that in alternatively spliced exons. The intensity of selection was also shown to be depended on the inclusion level of exons: the number of transcripts that include an exon. Here, we examined how the difference in selection pressure influences the patterns of clinical variants in human exons. Our analysis revealed a positive relationship between exon inclusion level and the abundance of pathogenic variants. The proportion of pathogenic variants in the exons that are included in > 10 transcripts was 6.8 times higher than those in the exons included in only one transcript. This suggests that the mutations occurring in the exons included in multiple transcripts are more deleterious than those present in the exons included in one transcript. The findings of this study highlight that the exon inclusion level could be used to predict the mutations associated with diseases.
Details
- Title
- Abundance of clinical variants in exons included in multiple transcripts
- Authors
- Sankar Subramanian (Author) - University of the Sunshine Coast - Faculty of Science, Health, Education and Engineering
- Publication details
- Human Genomics, Vol.12(1), p.33
- Publisher
- Henry Stewart Publications LLP
- Date published
- 2018
- DOI
- 10.1186/s40246-018-0166-2
- ISSN
- 1473-9542
- Copyright note
- Copyright © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- Organisation Unit
- School of Science and Engineering - Legacy; University of the Sunshine Coast, Queensland; School of Science, Technology and Engineering; Centre for Bioinnovation
- Language
- English
- Record Identifier
- 99451407502621
- Output Type
- Letter/Communication
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