ClinVar_Re_predictions

Associated data for: Single point mutations in disordered proteins: linking sequence, ensemble, and function by Eduardo Flores, Nirbhik Acharya,Carlos Castaneda, and Shahar Sukenik. Current Opinion in Structural Biology, 91, 2025, 102987 Publication: https://www.sciencedirect.com/science/article/pii/S0959440X25000053 See also analysis repo at: https://github.com/sukeniklab/ClinVar_Re_predictions Files descriptions: job.sub - HT Condor submission file for the analysis wrapper.sh - Wrapper called for every job initiated by job.sub parseClinvar.py - full analysis for every mutation. See wrapper.sh for details on calling this script. allClinvarMissense.csv - output of analysis. headers are: upID - Uniprot ID geneID - human genome gene ID N_res - number of residues N_disordered - number of disordered residues (metapredict > 0.7) N_ordered - number of ordered residues varID (metapredict < 0.3) change - string for mutation at protein level orig - original 3-letter AA pos - mutation position mut - mutation 3-letter AA wtRe - Re of mutRe wtRe_local mutRe_local changeType res_disorder disease signi data.tar.gz contains data used by parseClinvar.py.: clinvar_20240917.vcf.gz - clinvar export used as input for this analysis all_id_mappings.tsv: mapping of uniprot code to gene number uniprotkb_proteome_UP000005640_2024_08_16.tsv: uniprot human proteome export including sequence关联配套数据集对应论文： 《无序蛋白的单点突变：连接序列、构象系综与功能》（Single point mutations in disordered proteins: linking sequence, ensemble, and function） 作者：Eduardo Flores、Nirbhik Acharya、Carlos Castaneda与Shahar Sukenik 发表于《Current Opinion in Structural Biology》2025年第91卷，文章编号：102987 论文原文链接：https://www.sciencedirect.com/science/article/pii/S0959440X25000053 相关分析代码仓库：https://github.com/sukeniklab/ClinVar_Re_predictions 文件说明： 1. job.sub：用于提交分析任务的HT Condor脚本 2. wrapper.sh：由job.sub启动的每个分析任务所调用的包装脚本 3. parseClinvar.py：针对所有突变的完整分析脚本，脚本调用细节可参考wrapper.sh文件 4. allClinvarMissense.csv：分析输出结果文件，其表头字段如下： - upID：Uniprot 编号（Uniprot ID） - geneID：人类基因组基因编号 - N_res：总残基数量 - N_disordered：无序残基数量（metapredict得分>0.7） - N_ordered：有序残基数量（metapredict得分<0.3） - varID：变异编号 - change：蛋白质水平突变的字符串表述 - orig：原始氨基酸的三字母编码 - pos：突变位点的氨基酸位置 - mut：突变后氨基酸的三字母编码 - wtRe：野生型Re值 - mutRe：突变型Re值 - wtRe_local：局部区域野生型Re值 - mutRe_local：局部区域突变型Re值 - changeType：突变类型 - res_disorder：残基无序性评分 - disease：关联疾病信息 - signi：显著性统计结果 data.tar.gz 包含parseClinvar.py运行所需的全部数据集： - clinvar_20240917.vcf.gz：本次分析所用的ClinVar导出VCF（Variant Call Format）文件 - all_id_mappings.tsv：Uniprot编码与人类基因编号的映射TSV（Tab-Separated Values）文件 - uniprotkb_proteome_UP000005640_2024_08_16.tsv：包含蛋白质序列信息的人类UniProt蛋白质组导出TSV文件