Important Alternative Isoforms in Human

In the study "An analysis of tissue-specific alternative splicing at the protein level" (Rodriguez et al. 2020), we investigated the evidence for tissue-specific splicing among those splice isoforms detected in a large-scale proteomics analysis. Although the data supporting alternative splicing is limited at the protein level, clear patterns emerged among the small numbers of alternative splice events that we could detect in the proteomics data.

More than a third of these events were tissue-specific and most were ancient: over 95% of alternative splice events that were tissue-specific in both proteomics and RNAseq analyses evolved prior to the ancestors of lobe-finned fish, at least 400 million years ago.

Tissue-specific alternative protein forms in the proteomics analysis were particularly abundant in nervous and muscle tissues and their genes had roles related to the cytoskeleton and either the structure of muscle fibres or cell-cell connections. This suggests that tissue-specific alternative splicing may have played a role in the development of the vertebrate brain and heart.

These genes are from GENCODE v27. However, our results may not be extrapolable to the whole genome; three in four alternative exons in the human gene set arose in the primate lineage.


These data can be downloaded here in TSV format.
For more information about these Functional Isoforms, read the following publication:

An analysis of tissue-specific alternative splicing at the protein level
Jose Manuel Rodriguez, Fernando Pozo, Tomas di Domenico, Jesus Vazquez, Michael L. Tress
DOI:10.1371/journal.pcbi.1008287