Table 2.
Attribute Type | Sources (# of categories) |
---|---|
Mutation Tolerance | ExAc_LoF(3), ExAc_Missense (3), RVIS (3), Mouse Protein identity (2) |
Other Target Characteristics | Target Location (7), Target Topology (5) |
Genes were broken into non-overlapping categories based on available data. Genes were classified as tolerant, intolerant and unclassified based on data from the Exome Aggregation Consortium [51] and the percentile rank of Residual Variation Intolerance Score [52]. Genes were based on the identification of > = 75% protein homology between human and mouse, data downloaded from BioMart [53]. Target Location and Topology were derived from a review of information from Gene Ontology, InterPro, PFAM, and UniProt