(beta) Protein Feature Enrichment Score (PFES): proteome-wide mechanistic partitioning of missense variant

Data repository for Protein Feature Enrichment Score (PFES). gene_fraction_PFES_category.csv A list of genes annotated with the fraction of missense variants partitioned into PF-Enriched, PF-Neutral, and PF-Depleted among all possible amino acid substitutions Gene: HGNC gene symbol frac_PF_Enriched: the fraction of PF-Enriched missense variants among all possible AA substitutions frac_PF_Neutral: the fraction of PF-Neutral missense variants among all possible AA substitutions frac_PF_Depleted: the fraction of PF-Depleted missense variants among all possible AA substitutions Chromosome: Chromosome location (23: X, 24: Y, 25: MT) GenCC: whether the gene is listed in GenCC (https://thegencc.org/) with Definitive or Strong classification for the gene-disease relationship本数据集存储库为蛋白质特征富集分数（Protein Feature Enrichment Score, PFES）的数据集存储库。 gene_fraction_PFES_category.csv 该文件包含针对所有可能氨基酸替换中，被划分为PF富集（PF-Enriched）、PF中性（PF-Neutral）与PF耗竭（PF-Depleted）三类的错义变异比例进行注释的基因列表。 Gene: HGNC基因符号 frac_PF_Enriched：所有可能氨基酸替换中，PF富集型错义变异的占比 frac_PF_Neutral：所有可能氨基酸替换中，PF中性型错义变异的占比 frac_PF_Depleted：所有可能氨基酸替换中，PF耗竭型错义变异的占比 Chromosome：染色体位置（23代表X染色体，24代表Y染色体，25代表线粒体染色体） GenCC：该基因是否在GenCC数据库（https://thegencc.org/）中被标注为其基因-疾病关联关系属于明确（Definitive）或强（Strong）分类的基因