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. 2019 Feb 8;20:69. doi: 10.1186/s12859-019-2664-1

Table 2.

Six sources of target-only categorical attributes

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