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Article

Genome-wide detection of human 5' UTR variants that impact protein translation.

American journal of human genetics - 2 Apr 2026

Chaldebas Matthieu, Ponsin Khoren, Bohlen Jonathan, Conil Clement, Mourelatos Haralambos, Stenson Peter D, Cooper David N, Abel Laurent, Casanova Jean-Laurent, Cobat Aurélie, Zhang Peng

Abstract excerpt

The 5' untranslated region (5' UTR) of messenger RNAs (mRNAs) plays a central role in regulating protein synthesis initiation, particularly through the Kozak sequence and upstream open reading frames (uORFs). Genetic variants within these regulatory elements could affect translation, altering gene expression and contributing to clinical phenotypes in humans. We developed a computational method called 5ULTRA (5'...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41881026
DOI: 10.1016/j.ajhg.2026.02.020
PMCID: PMC13087467

Genes

ABI1
NRAS
RPSA
TAGAP
TNF
VRTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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