University of Khartoum

In silico analysis of non-synonymous Single nucleotide polymorphisms of BMBR2 (PPH1) gene and demonstration of gene's network interactions

In silico analysis of non-synonymous Single nucleotide polymorphisms of BMBR2 (PPH1) gene and demonstration of gene's network interactions

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Title: In silico analysis of non-synonymous Single nucleotide polymorphisms of BMBR2 (PPH1) gene and demonstration of gene's network interactions
Author: Dafaalla, Mohamed; Elsheikh, Mohamed; Abdelrahim, Mohamed; Taha,Mohamed A.; Ahmed ,Sundos; Elnair,Radowan; Basher,Enas; Abdelghani,Amro; Ali,Abdelmoneim Mohamed; Dafaalla,Mohamed D.; alfaki,Musaab M.; Abdelrahim,Mohamed A.; Abdalla,Abdelmohaymin A.; Mohammed,Musab I.; Hussein,Abbasher; Hassan,Mohamed
Abstract: Mutations in BMPR2 gene are seen in about 15% of sporadic cases and about 40% of familial cases of PPH. We have studied non-synonymous SNPs in BMPR2-002 (ENST00000374574). Non-synonymous dsSNPs were identified using NCBI-database. Then advanced bioinformatics analysis was used to determine the functionality of each SNP in the coding region. Out of 323 SNPs which were found in the coding region, only 7 were found to be damaging in both SIFT and polyphen. 53 SNPs in 3UTR region were found to disrupt miRNA binding sites, whereas 55 SNPs were found to create new ones. Certain SNPs affect binding sites of certain MicroRNAs that have been linked to hepatic cancer and prostate cancer. BMPR2 gene interactions with other genes were identified and classified according to multiple parameters (physical interaction, co-localization, co-expression, pathway and prediction). BMPR2 is an important regulator in BMP pathway which affects cellular growth. Certain SNPs were found to affect BMPR2 structure hence function for better correlation with clinical cases.
URI: http://khartoumspace.uofk.edu/handle/123456789/20530
Date: 2015


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