Cancer Structural Biology, Danish Cancer Society Research Center, 2100, Copenhagen, Denmark

Repository associated to the publication:

The Cancermuts software package for the prioritization of missense cancer variants: a case study of AMBRA1 in melanoma. Matteo Tiberti*, Luca Di Leo, Mette Vixø Vistesen, Rikke Kuhre, Francesco Cecconi, Daniela De Zio*, Elena Papaleo. Submitted to bioRxiv. https://doi.org/10.1101/2022.05.23.493014

contacts for this repository: elenap-at-cancer.dk, tiberti-at-cancer.dk

cancermuts

Description

Cancermuts is a package for the automtic retrieval and annotation of cancer mutations. At the moment it supports:

• Retrieval of protein sequence from UniProt
• Annotation of the sequence with data from
  • cBioPortal - cancer mutations
  • COSMIC - cancer mutations (after SNP filtering)
  • ELM - linear motifs
  • REVEL - pathogenicity prediction
  • Phosphosite - post-translational modifications
  • Manually curated annotations from csv files

Please see the Cancermuts documentation on GitLab for further details