Next is Xiaolei Zhang, discussing "Annotating high-impact 5'UTR variants with the UTRannotator"
The translation of upstream open reading frames can reduce the expression of genes considerably. Can have overlapping uORF, out of frame or in frame depending on where the stop coding of the uORF lies #ASHG20
uORF perturbing variants can be disease-causing. they are under strong negative selection and appear to cause disease through LoF of genes. #ASHG20
No existing annotation approach, so designed the UTRannotator. Annotates numerous classes of small variant to detect uORF-perturbing variants. Provides detailed annotations of potentially perturbing variants #ASHG20
Annotations include the existing N for uorfs, the kozak sequence and string and the distance to the CSS, whether a subtype is created, and translation evidence if disrupted #ASHG20
Application in ClinVar - annotates 32% of pathogenic uORF variants in ClinVar [other things, missed again]. Application in Genomics England and gnoMAD. See more uORF perturbing in GenEng than gnoMAD. ID some high-impact uORF variants. #ASHG20
De novo 5-UTR variants are enriched for uORF perturbing variants in LoF-vulnerable genes #ASHG20
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