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.

https://chemrxiv.org/engage/chemrxiv/article-details/6758cd7af9980725cfa9eec8 

repository includes:

• all_id_mappings.tsv: mapping of uniprot code to gene number
• uniprotkb_proteome_UP000005640_2024_08_16.tsv: uniprot human proteome export including sequences
• 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
• clinvar_20240917.vcf.gz - clinvar export used as input for this analysis
• 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.