Genome-wide identification of exon extension/shrinkage events induced by splice-site-creating mutations.

ABSTRACT: Mutations that affect phenotypes have been identified primarily as those that directly alter amino acid sequences or disrupt splice sites. However, some mutations not located in functionally important sites can also affect phenotypes, such as splice-site-creating mutations (SCMs). To investigate how frequent exon extension/shrinkage events induced by SCMs occur in normal individuals, we used personal genome sequencing data and transcriptome data of the corresponding individuals and identified 371 exon extension/shrinkage events in normal individuals. This number was about three times higher than the number of pseudo-exon activation events identified in the previous study. The average numbers of exon extension and exon shrinkage events in each sample were 3.3 and 11.2, respectively. We also

SUBMITTER: Qu Z 

PROVIDER: S-EPMC9639565 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature