Analysing of some protein coding SNPs Of Homo sapiens cell division cycle 73 (CDC73) gene by using seven tools (bioinformatics study)

Abstract Background:Homo sapiens cell division cycle 73 (CDC73)Enables RNA polymerase II complex binding activity. Involved in several processes, including histone ubiquitination; negative regulation of cell population proliferation; and regulation of cell cycle G1/S phase transition. Located in cytosol and nucleoplasm. Part of Cdc73/Paf1 complex. Implicated in hyperparathyroidism and parathyroid carcinoma. Biomarker of carcinoma (multiple) and colorectal cancer,This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.Aim of study:The study is aimed to show the affect of eight protein coding SNPs on human health and if it benign or neutral by using different gene and protein sites (SIFT,POLYPHEN2,I-MUTANT 3. 0,PROVEAN,and SNPS&GO).Results:the study shows 4 SNPs (50%) are damaging according to SIFT ,while the other 4 SNPs(50%) are TOLERATED ,while according to another bioiformatic tool called POLYPHEN2 there are 4 of SNPs (50%) Benign , 3 (37.5%) are Probably damaging and 1(12.5 %) Possibily damaging.The I-MUTANT 3.0 indicated 2(25 %) L Neutral stability and 5( 62.5 %) Large decrease stability while 1( 12.5 %) shows Large increase stability ,while PhD-SNP site shows 7(87.5%) ,1(12.5%) Neutral and Decrease correspondly,While Panther shows 8(100%) Neutral , but PROVEAN shows 6(75%) Neutral ,and 2(35%) are Deleterious ,while all of SNPs are Neutral according to SNPS&GO.Conclusions:This study has determined the SNPs of CDC73 gene which may contribute to the malfunction of its protein and ultimately leads to the CDC73 gene associated diseases.This study shows that there are many types of SNPs which result in gen modification but still having neutral affectWhile other SNPs that located at the exone location have disease leading effect and may result in a gene damage and progressive diseases