A framework for exhaustively identifying functional missense variation applied to four human proteins

ABSTRACT: Four deep mutational scanning maps for human genes: UBE2I (Sumo E2 conjugase), SUMO1 (Sumo1), TPK1 (Thiaminepyrophosphokinase 1) and CALM1 (Calmodulin) The files contain the results of Deep Mutational Scans, followed by imputation of missing values using machine learning and refinement of less confidently measured values There are two files for each file. One with original scores, and one with hypercomplementing variant scores inverted ("flipped") to reflect deleteriousness Score scaling: 0 = nonsense-like; 1 = synonymous-like Columns: mut: variant descriptor wt-residue followed by amino acid position, followed by mutant residue screen.score: Experimentally measured score (NA where missing) screen.sd: Standard deviation of the experimentally measured score (NA where missing) df: Degrees o

SUBMITTER: Jochen Weile 

PROVIDER: S-BSST60 | biostudies-other |

REPOSITORIES: biostudies-other