rSNP_Guide

rSNP_Guide predicts and annotates transcription factor (TF) binding sites and quantifies their statistical significance to associate TF-DNA interactions with disease-related regulatory variation.

Key Features:

• Computational database: Serves as a computational system and database of analyzed TF sites.
• Prediction of Transcription Factor Binding Sites: Predicts TF binding sites that may influence gene regulation and contribute to disease based on known TF site–disease relationships and site-directed mutagenesis data.
• TF Site Annotation: Annotates potential TF sites in homologous genes by leveraging previously analyzed cases of altered TF sites.
• Statistical Significance Classification: Assigns statistical measures and categorizes predicted TF-DNA interactions as 'present', 'weak', or 'absent'.
• Homologous Gene Analysis: Leverages data from 20 known TF sites with altered DNA binding to identify and localize 245 potential TF sites in homologous genes.

Scientific Applications:

• Disease Phenotype Research: Predicts and annotates TF binding sites linked to diseases to help identify genetic variations that may contribute to disease development.
• Gene Regulatory Network Analysis: Supports study of gene regulatory networks by predicting and annotating TF sites to reveal transcriptional control relationships.
• Functional Genomics: Enables exploration of functional non-coding regions involved in transcriptional regulation.

Methodology:

Combines computational prediction and statistical validation by integrating known TF site–disease relationships and site-directed mutagenesis data, and classifies TF-DNA interactions as 'present', 'weak', or 'absent'.