TY - JOUR T1 - CiliaCarta: an integrated and validated compendium of ciliary genes JF - bioRxiv DO - 10.1101/123455 SP - 123455 AU - Teunis J. P. van Dam AU - Julie Kennedy AU - Robin van der Lee AU - Erik de Vrieze AU - Kirsten A. Wunderlich AU - Suzanne Rix AU - Gerard W. Dougherty AU - Nils J. Lambacher AU - Chunmei Li AU - Victor L. Jensen AU - Michel R. Leroux AU - Rim Hjeij AU - Nicola Horn AU - Yves Texier AU - Yasmin Wissinger AU - Jeroen van Reeuwijk AU - Gabrielle Wheway AU - Barbara Knapp AU - Jan F. Scheel AU - Brunella Franco AU - Dorus A. Mans AU - Erwin van Wijk AU - François Képès AU - Gisela G. Slaats AU - Grischa Toedt AU - Hannie Kremer AU - Heymut Omran AU - Katarzyna Szymanska AU - Konstantinos Koutroumpas AU - Marius Ueffing AU - Thanh-Minh T. Nguyen AU - Stef J.F. Letteboer AU - Machteld M. Oud AU - Sylvia E. C. van Beersum AU - Miriam Schmidts AU - Philip L. Beales AU - Qianhao Lu AU - Rachel H. Giles AU - Radek Szklarczyk AU - Robert B. Russell AU - Toby J. Gibson AU - Colin A. Johnson AU - Oliver E. Blacque AU - Uwe Wolfrum AU - Karsten Boldt AU - Ronald Roepman AU - Victor Hernandez-Hernandez AU - Martijn A. Huynen Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/04/03/123455.abstract N2 - The cilium is an essential organelle at the surface of most 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 found experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins. In addition, we show that OSCP1, which has previously been implicated in two distinct non-ciliary functions, causes a cilium dysfunction phenotype when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 836 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 http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/. ER -