Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.

ABSTRACT: An increasing number of studies emphasize the role of non-coding variants in the development of hereditary diseases. However, the interpretation of such variants in clinical genetic testing still remains a critical challenge due to poor knowledge of their pathogenicity mechanisms. It was previously shown that variants in 5'-untranslated regions (5'UTRs) can lead to hereditary diseases due to disruption of upstream open reading frames (uORFs). Here, we performed a manual annotation of upstream translation initiation sites (TISs) in human disease-associated genes from the OMIM database and revealed ∼4.7 thousand of TISs related to uORFs. We compared our TISs with the previous studies and provided a list of 'high confidence' uORFs. Using a luciferase assay, we experimentally validated the tra

SUBMITTER: Filatova A 

PROVIDER: S-EPMC9943669 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature