Abundance of clinical variants in exons included in multiple transcripts

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 exami...

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Main Author: Sankar Subramanian
Format: Article
Language:English
Published: BMC 2018-06-01
Series:Human Genomics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s40246-018-0166-2
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spelling doaj-4a847e71c12148978a7fd580fdb4fff42020-11-25T01:27:31ZengBMCHuman Genomics1479-73642018-06-011211510.1186/s40246-018-0166-2Abundance of clinical variants in exons included in multiple transcriptsSankar Subramanian0GeneCology Research Centre, The University of the Sunshine CoastAbstract 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.http://link.springer.com/article/10.1186/s40246-018-0166-2Constitutive exonsAlternatively spliced exonsRate of protein evolutionPathogenic variants
collection DOAJ
language English
format Article
sources DOAJ
author Sankar Subramanian
spellingShingle Sankar Subramanian
Abundance of clinical variants in exons included in multiple transcripts
Human Genomics
Constitutive exons
Alternatively spliced exons
Rate of protein evolution
Pathogenic variants
author_facet Sankar Subramanian
author_sort Sankar Subramanian
title Abundance of clinical variants in exons included in multiple transcripts
title_short Abundance of clinical variants in exons included in multiple transcripts
title_full Abundance of clinical variants in exons included in multiple transcripts
title_fullStr Abundance of clinical variants in exons included in multiple transcripts
title_full_unstemmed Abundance of clinical variants in exons included in multiple transcripts
title_sort abundance of clinical variants in exons included in multiple transcripts
publisher BMC
series Human Genomics
issn 1479-7364
publishDate 2018-06-01
description 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.
topic Constitutive exons
Alternatively spliced exons
Rate of protein evolution
Pathogenic variants
url http://link.springer.com/article/10.1186/s40246-018-0166-2
work_keys_str_mv AT sankarsubramanian abundanceofclinicalvariantsinexonsincludedinmultipletranscripts
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