Mutant Catalog and Homologous Pathogenic Variant Resource for Caenorhabditis elegans and Human Genes

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Authors: Ming Li, Shimin Wang, Yongping Chai, Zhengyang Guo, Zi Wang, Zhe Chen, Kexin Lei, Jingyi Ke, Xingshen Huang, Guanghan Chen, Peng Huang, Kaiming Xu
+3 more Zijie Shen, WEI LI, Guangshuo Ou
Cited by: 0

Abstract

This Zenodo record contains two datasets related to the TaoChongBao database. The first dataset is a mutant catalog of mutations identified in 12,069 C. elegans mutant strains, including gene annotations, genomic coordinates, variant types , and predicted DNA and protein consequences. The second dataset is a homologous pathogenic mutation resource linking conserved amino acid residues between worm and human proteins. For each conserved position, the dataset records the reference residue, AlphaMissense predictions for possible substitutions, and disease-associated variants reported in ClinVar when available. Together, these resources support comparative functional genomics and facilitate the interpretation of human disease variants using the C. elegans model system.

Fields of Study & Subjects

Genomics and Rare Diseases Genomics and Phylogenetic Studies Genetic Associations and Epidemiology

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
11 March 2026
Language
EN
Document type
Dataset