Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene
Author(s) -
Mohamed M. Hassan,
Shaza E. Omer,
Rahma M. Khalf-allah,
Razaz Y. Mustafa,
Mohamed S. Ali,
Sofia B. Mohamed
Publication year - 2016
Publication title -
advances in bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.33
H-Index - 20
eISSN - 1687-8035
pISSN - 1687-8027
DOI - 10.1155/2016/2632917
Subject(s) - indel , single nucleotide polymorphism , genetics , snp , gene , biology , exon , rna splicing , coding region , intron , computational biology , splice , untranslated region , rna , genotype
This study was carried out for Homo sapiens single variation (SNPs/Indels) in BRAF gene through coding/non-coding regions. Variants data was obtained from database of SNP even last update of November, 2015. Many bioinformatics tools were used to identify functional SNPs and indels in proteins functions, structures and expressions. Results shown, for coding polymorphisms, 111 SNPs predicted as highly damaging and six other were less. For UTRs, showed five SNPs and one indel were altered in micro RNAs binding sites (3′ UTR), furthermore nil SNP or indel have functional altered in transcription factor binding sites (5′ UTR). In addition for 5′/3′ splice sites, analysis showed that one SNP within 5′ splice site and one Indel in 3′ splice site showed potential alteration of splicing. In conclude these previous functional identified SNPs and indels could lead to gene alteration, which may be directly or indirectly contribute to the occurrence of many diseases.
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