Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F17%3AN0000009" target="_blank" >RIV/00209775:_____/17:N0000009 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14740/17:00095654
Result on the web
<a href="https://www.journals.elsevier.com/clinical-immunology/" target="_blank" >https://www.journals.elsevier.com/clinical-immunology/</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/doi.org/10.1016/j.clim.2017.03.010" target="_blank" >doi.org/10.1016/j.clim.2017.03.010</a>
Alternative languages
Result language
angličtina
Original language name
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
Original language description
Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivial, especially when SREs are involved. Here, we present data on 92 in silico-/55 minigene-analysed variants detected in genes responsible for the primary immunodeficiencies development (namely BTK, CD40LG, IL2RG, SERPING1, STAT3, and WAS). Of 20 splicing-affecting variants, 16 affected splice site while 4 disrupted potential SRE. The presence or absence of splicing defects was confirmed in 30 of 32 blood-derived patients' RNAs. Testing prediction tools performance, splice site disruptions and creations were reliably predicted in contrast to SRE-affecting variants for which just ESRseq, ΔHZEI-scores and EX-SKIP predictions showed promising results. Next, we found an interesting pattern in cryptic splice site predictions. These results might help PID-diagnosticians and geneticists cope with potential splicing-affecting variants.
Czech name
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Czech description
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Classification
Type
J<sub>ost</sub> - Miscellaneous article in a specialist periodical
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/NV16-34414A" target="_blank" >NV16-34414A: Determination of genetic regions susceptible to splicing affecting mutations</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinical Immunology
ISSN
1521-6616
e-ISSN
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Volume of the periodical
180
Issue of the periodical within the volume
July
Country of publishing house
US - UNITED STATES
Number of pages
12
Pages from-to
33-44
UT code for WoS article
000403998600005
EID of the result in the Scopus database
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