In Silico Analysis of SNPS Pathogenicity in the Human BUD13 Gene in the Type 2 Diabete

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dc.contributor.authorAQEEL AHMED
dc.date.accessioned2025-11-21T20:16:23Z
dc.date.available2025-11-21T20:16:23Z
dc.date.issued2024
dc.description.abstractBUD13 gene is known as BUD13 homolog that is a protein coding gene that directly involved in the pre- mRNA splicing as a component of the activated spliceosomes. It enables the RNA binding activity and located in the nucleoplasm, main part of the U2-type precatalytic spliceosome. According to GWAS (Genome-Wide Association Studies) catalog, Polymorphism have been found in the BUD13 variants to be associated with the different metabolic syndromes such as Type 2 Diabetes. These studies investigated that BUD13 variants are associated with the triglyceride, highdensity lipoprotein cholesterol (HDL-C), low-density lipoprotein (LDL), total cholesterol and fasting glucose. There are several factors sch as gender, age, ethnicity lifestyle and the genetic backgrounds influenced the direct association between the Single nucleotide polymorphism (SNP) with the lipid levels. So, the identification of SNPs that have a structural and functional effect on the BUD13 gene is an important in this study. Here this study identifies the most common damaging missense or nonsynonymous (nsSNPs) from total 564 SNPs of BUD13, that might be most crucial for the structures and function of the BUD13 gene by using multiple different bioinformatics tools in this study. These In silico tools like SIFT, POLYPHEN 2, PROVEAN, PANTHER, SNP-GO and PhD-SNP predicted the most damaging, deleterious and disease associated SNPs followed by the I-mutant, MUPRO, INSP and Consurf Tools. The protein structure was predicted by the docking and by Prochechk web server while the gene -gene interaction were identified by the String. This study identifies the different damaging missense rsIDs in the coding region of BUD13 gene. Among these nsSNPs, some nsSNPs showed loss of potential phosphorylation and some found to be highly conserved region. The prediction of gene-gene interaction of BUD13 gene with their closely related gene is an important part of this analysis and their importance in the different pathways. These studies showed that BUD13 involved in the lipid metabolism that suggest it might play an essential role in the pathogenicity of Metabolic syndromes (MetS) and its traits by changing the lipid level in Type 2 diabetes.
dc.identifier.urihttps://escholar.umt.edu.pk/handle/123456789/11615
dc.language.isoen
dc.publisherUMT, Lhr
dc.titleIn Silico Analysis of SNPS Pathogenicity in the Human BUD13 Gene in the Type 2 Diabete
dc.typeThesis
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