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...
| Main Author: | |
|---|---|
| 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 |
| _version_ | 1818038255908552704 |
|---|---|
| author | Sankar Subramanian |
| author_facet | Sankar Subramanian |
| author_sort | Sankar Subramanian |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-10T07:39:50Z |
| format | Article |
| id | doaj.art-4a847e71c12148978a7fd580fdb4fff4 |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-12-10T07:39:50Z |
| publishDate | 2018-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-4a847e71c12148978a7fd580fdb4fff42022-12-22T01:57:20ZengBMCHuman 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 |
| 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 |
| title | 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_short | Abundance of clinical variants in exons included in multiple transcripts |
| title_sort | abundance of clinical variants in exons included in multiple transcripts |
| 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 |