Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F23%3A00132995" target="_blank" >RIV/00216224:14740/23:00132995 - isvavai.cz</a>
Result on the web
<a href="https://eshg2018.floq.live/event/eshg2023/search?objectClass=timeslot&objectId=645954e15d10763cee46a7f9&type=detail" target="_blank" >https://eshg2018.floq.live/event/eshg2023/search?objectClass=timeslot&objectId=645954e15d10763cee46a7f9&type=detail</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.
Original language description
Intronic variants do not change a gene coding sequence but they can impact gene function via aberrant RNA splicing. The creation of a new AG dinucleotide in the AG exclusion zone of the acceptor splice site typically causes its utilization, or exon skipping. This kind of alteration was revealed in intron 15 of RAD50 gene (NM_005732.4:c.2525-13T>A). RAD50 gene is involved in sensing and repairing DNA damage. The computational prediction for the RAD50 variant’s potential impact on RNA splicing was predicted by SpliceAI and acceptor splice site strengths were calculated using MaxEntScan. Branch-point predictions were processed by LaBranchoR. The transcript profile was determined using two-step PCR followed by capillary electrophoresis. The quantification of mutated allele ratio was performed by a minigene assay.
Czech name
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Czech description
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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