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Table 1 Curation of alternative splicing literature has reveals 23 human genes and 20 mouse genes with functionally distinct splice isoforms (FDSIs)

From: Systematic evaluation of isoform function in literature reports of alternative splicing

Species Curated genes Genes with FDSIs Studies curated Study Type
Isoform Removal Overexpression Localization Other study types
Human 555 23 903 149 294 80 380
Mouse 227 20 272 82 70 37 83
Total 782 43 1127 222 353 109 443
  1. The 23 human genes with FDSIs accounted for almost 4% of human genes annotated in this knowledgebase, while the 20 mouse genes accounted for 9% of the all mouse genes annotated. The majority of curated studies could be classified into three different types: “isoform removal”, “overexpression” and “localization”. Isoform removal studies have experiments where expression of at least one splice isoform is eliminated and a phenotypic change is evaluated. Overexpression studies have experiments where at least one splice isoform is overexpressed. This “abundance” of the splice isoform can cause a phenotype (not necessarily distinct). Localization studies have experiments that characterize where in the cell or organism the splice isoform is expressed. A single study can report experiments with multiple study types. The total number of human and mouse studies curated do not sum to 1158 studies because some publications investigated both human and mouse forms of a single gene