首页/数据集/Prediction of SNP substitution on pathogenicity, analysis performed in silico [32].

Prediction of SNP substitution on pathogenicity, analysis performed in silico [32].

Figshare2017-11-03 更新2026-04-29 收录

数据链接：

https://figshare.com/articles/dataset/Prediction_of_SNP_substitution_on_pathogenicity_analysis_performed_i_in_silico_i_32_/5565280 数据链接链接失效反馈

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Variants predicted by different tools as deleterious were shaded.

应用场景：

创建时间：

2017-11-03

致病性SNP预测

TCIRG1基因突变分析

T Cell Immune Regulator 1, ATPase H + Transporting V0 Subunit A3 (TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H + -ATPase (V-A

NIAID Data Ecosystem160

In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene

地中海贫血基因检测

致病性SNP预测

Background α-Thalassemia (α-thal) is a genetic disorder caused by the substitution of single amino acid or large deletions in the HBA1 and/or HBA2 genes. Method Using modern bioinformatics tools as a

NIAID Data Ecosystem50

File S1 - Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP

致病性SNP预测

算法评估

This file contains three supporting tables. Table S1aa Performance of NetDiseaseSNP. (1) All SNPs where NetDiseaseSNP and SIFT agree on the prediction; (2) All SNPs where NetDiseaseSNP and SIFT disagr

NIAID Data Ecosystem20

Details of genetic variation in the BCL11A gene predicted as high-risk SNPs out of 266 nsSNPs.

致病性SNP预测

功能遗传学

Details of genetic variation in the BCL11A gene predicted as high-risk SNPs out of 266 nsSNPs.

Figshare2019-02-15 更新50

Top 10 GO terms significantly enriched or depleted for deleterious coding variants, and enriched for “knocked-out” genes.

基因功能富集分析

生物信息学变异注释

P-values were computed for significance of enrichment by Gorilla (http://cbl-gorilla.cs.technion.ac.il/).

Figshare2015-12-02 更新20