CiliaCarta
CiliaCarta provides an integrated compendium and predictive scoring of ciliary genes to identify and prioritize genes involved in ciliogenesis and ciliopathies.
Key Features:
- Compendium: Comprehensive compendium of 956 genes related to ciliary function.
- Multi-dimensional data: Integration of genomic, proteomic, transcriptomic, and evolutionary data.
- Bayesian scoring: Systematic integration using Bayesian statistics to generate a predictive score for ciliary function.
- Candidate identification: Identification of 285 candidate genes potentially linked to ciliary processes.
- Experimental validation: Independent experimental evidence obtained in mouse, zebrafish, and nematode models.
- Validation outcome: Of 36 analyzed candidate proteins, 24 were confirmed to associate with cilia.
- Illustrative gene: OSCP1 depletion in zebrafish produced ciliogenic and ciliopathy-associated tissue phenotypes.
Scientific Applications:
- Variant prioritization: Prioritizing candidate genes during whole exome or whole genome sequencing for ciliopathy diagnosis and gene discovery.
- Functional study selection: Guiding selection of genes for experimental validation in ciliogenesis and ciliary biology studies.
- Comparative analysis: Supporting evolutionary and comparative analyses of ciliary gene conservation and function.
Methodology:
Genomic, proteomic, transcriptomic, and evolutionary data were systematically integrated using Bayesian statistics to compute a predictive score for ciliary function.
Topics
Details
- License:
- Unlicense
- Maturity:
- Mature
- Cost:
- Free of charge
- Tool Type:
- web application
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- JavaScript
- Added:
- 8/9/2019
- Last Updated:
- 6/16/2020
Operations
Data Inputs & Outputs
Publications
van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA. CiliaCarta: An integrated and validated compendium of ciliary genes. PLOS ONE. 2019;14(5):e0216705. doi:10.1371/journal.pone.0216705. PMID:31095607. PMCID:PMC6522010.