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Leaky Scanning

Leaky Scanning

During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R stands for...

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Related Experiment Video

Updated: Jun 3, 2026

A Rapid High-throughput Method for Mapping Ribonucleoproteins RNPs on Human pre-mRNA

A Rapid High-throughput Method for Mapping Ribonucleoproteins RNPs on Human pre-mRNA

Published on: December 2, 2009

Annotating high-impact 5'untranslated region variants with the UTRannotator.

Xiaolei Zhang^1,2, Matthew Wakeling³, James Ware^1,2

¹National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London W12 0NN, UK.

Bioinformatics (Oxford, England)

|September 14, 2020

Summary

We developed UTRannotator, a tool to predict genetic variant effects in 5' untranslated regions (5'UTR). This improves annotation for variants impacting gene expression and disease risk, addressing limitations of current prediction tools.

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Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Current genetic variant annotation tools primarily focus on protein-coding regions.
Variants in 5' untranslated regions (5'UTR) can significantly impact gene expression and disease but are often poorly annotated.
Predicting the functional impact of variants outside coding sequences remains a challenge.

Purpose of the Study:

To develop and evaluate UTRannotator, a plugin for Ensembl Variant Effect Predictor.
To annotate genetic variants within 5'UTRs that affect upstream open reading frames.
To improve the prediction of disease-associated variants located in 5'UTRs.

Main Methods:

Developed UTRannotator as a plugin for the Ensembl Variant Effect Predictor.
Utilized the ClinVar database to assess the tool's performance.
Annotated variants in 5'UTRs, specifically those creating or disrupting upstream open reading frames.

Main Results:

UTRannotator successfully provided annotations for 31.9% of likely pathogenic variants in 5'UTRs within the ClinVar database.
Identified 31 variants of uncertain significance in 5'UTRs as potential candidates for further investigation.
Demonstrated the utility of UTRannotator in enhancing the annotation of non-coding variants.

Conclusions:

UTRannotator significantly improves the annotation of genetic variants in 5'UTRs, particularly those affecting upstream open reading frames.
The tool aids in identifying potentially pathogenic variants and prioritizing variants of uncertain significance for further study.
Ongoing updates to UTRannotator will incorporate new knowledge on variant impacts in UTRs, enhancing genomic interpretation.