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PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019.

CiliaCarta: An integrated and validated compendium of ciliary genes.

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Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.
Theoretical Biology and Bioinformatics, Science faculty, Utrecht University, Utrecht, the Netherlands.
School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland.
Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Mainz, Germany.
Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
Department of Molecular Biology and Biochemistry and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, British Columbia, Canada.
Medical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Section of Ophthalmology & Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.
Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
Medical Genetics, Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
Institute of Systems and Synthetic Biology (iSSB), Genopole, CNRS, Univ. Evry, France.
Dept. Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, Utrecht, the Netherlands.
Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.
Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.
Bioquant/Cell Networks, Heidelberg, Germany.


The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been implicated in two distinct non-ciliary processes, causes ciliogenic and ciliopathy-associated tissue phenotypes when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 956 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at

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