ClinVar_Re_predictions

Associated data for:

Single point mutations in disordered proteins: linking sequence, ensemble, and function

by Eduardo Flores, Nirbhik Acharya,Carlos Castaneda, and Shahar Sukenik.

Current Opinion in Structural Biology, 91, 2025, 102987

Publication: https://www.sciencedirect.com/science/article/pii/S0959440X25000053

See also analysis repo at: https://github.com/sukeniklab/ClinVar_Re_predictions

Files descriptions:

job.sub - HT Condor submission file for the analysis

wrapper.sh - Wrapper called for every job initiated by job.sub

parseClinvar.py - full analysis for every mutation. See wrapper.sh for details on calling this script.

allClinvarMissense.csv - output of analysis. headers are:

upID - Uniprot ID

geneID - human genome gene ID

N_res  - number of residues 

N_disordered   - number of disordered residues (metapredict > 0.7)

N_ordered    - number of ordered residues varID (metapredict < 0.3)   

change  - string for mutation at protein level 

orig - original 3-letter AA   

pos  - mutation position 

mut - mutation 3-letter AA   

wtRe - Re of    mutRe    wtRe_local    mutRe_local    changeType    res_disorder    disease    signi

data.tar.gz contains data used by parseClinvar.py.:

clinvar_20240917.vcf.gz - clinvar export used as input for this analysis

all_id_mappings.tsv: mapping of uniprot code to gene number

uniprotkb_proteome_UP000005640_2024_08_16.tsv: uniprot human proteome export including sequence