Additional file 5 of Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

Additional file 5: Table S4. Gene sets enriched in up- and downregulated genes in Mir96 +13G>A and Mir96 +14C>A homozygotes. For each gene set, the number of the genes present in the RNA-seq dataset is shown, along with enrichment score (which indicates the degree of overrepresentation of the gene set at the top or the bottom of the list of input genes ranked by differential expression), normalised enrichment score (which accounts for gene set size), p value (significance of enrichment score for the single gene set) and false discovery rate (FDR; the probability that a gene set with that normalised enrichment score represents a false positive finding, corrected for multiple testing and gene set size). Gene sets are ordered by FDR. Two gene sets corresponding to predicted miR-96 targets are enriched in upregulated genes in the Mir96 + 13G > A transcriptome, but neither are enriched in the Mir96 + 14C > A transcriptome, which means that the genes in those gene sets are relatively evenly distributed through the Mir96 + 14C > A RNA-seq gene list when ranked by differential expression. This could be due to the much greater number of significantly misregulated genes in the Mir96 +14C>A transcriptome, which may mask the signal from the loss of the wildtype miR-96 targeting.补充文件5：表S4。Mir96 +13G>A与Mir96 +14C>A纯合子上调及下调基因的富集基因集。 本表格针对每个基因集，列出了RNA测序（RNA-seq）数据集中共有的基因数目，同时附带富集得分（enrichment score，用于反映基因集在按差异表达排序的输入基因列表头部或尾部的过度富集程度）、归一化富集得分（normalised enrichment score，考量基因集大小的影响）、p值（单个基因集富集得分的显著性）以及假发现率（false discovery rate, FDR，即经多重检验与基因集大小校正后，携带该归一化富集得分的基因集为假阳性结果的概率）。 基因集按FDR值排序。 对应于预测miR-96靶标的两个基因集，在Mir96 +13G>A转录组（transcriptome）的上调基因中呈富集状态，但在Mir96 +14C>A转录组（transcriptome）中均未富集。这表明，当按差异表达对基因进行排序时，上述基因集内的基因在Mir96 +14C>A的RNA-seq基因列表中分布相对均匀。 这一现象可能源于Mir96 +14C>A转录组中显著异常调控的基因数量更多，从而掩盖了野生型miR-96靶向作用缺失所产生的信号。