Table S1: Summary of Whole-exome Filtering Process
OLBRICH, Heike, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. The American Journal of Human Genetics, 2012, 91. Jg., Nr. 4, S. 672-684.
Publication: https://doi.org/10.1016/j.ajhg.2012.08.016
Description
A filtering process to assess variants for novelty was performed in order to determine the disease- causing variant. Firstly, all identified DNA variants in the siblings were compared in order to exclude those not shared between both. This reduced the total number of shared DNA variants from >100,000 to 54,232, and subsequent filtering against 181 control exomes available through the UK10K project resulted in further reduction to only 447 shared variants, 55 of which were homozygous, and 392 of which were heterozygous in both affected siblings. Due to the rare frequency of PCD we next excluded all variants that had an allele frequency equal to or higher than 0.5% in the 1000 Genomes database, which left 17 homozygous and 328 heterozygous variations shared between the affected individuals.
Disclaimer
The publication Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry by Heike Olbrich, Miriam Schmidts, Claudius Werner, Alexandros Onoufriadis, Niki T.Loges, Johanna Raidt, Nora Fanni Banki, Amelia Shoemark, Tom Burgoyne, Saeed Al Turki, Matthew E.Hurles, UK10K Consortium, Gabriele Köhler, Josef Schroeder, Gudrun Nürnberg, Peter Nürnberg, Eddie M.K.Chung, Richard Reinhardt…Heymut Omran is published under an open access license: https://creativecommons.org/licenses/by/3.0/. Granted rights: share — copy and redistribute the material in any medium or format and adapt — remix, transform, and build upon the material for any purpose, even commercially.
Curation by the MFGA team
Pie chart of selected column
Table
| GENE | Filter | TotalVariants | VariantCategory | GenesContainingTwoMutations | InCiliaProteome |
|---|---|---|---|---|---|
| None | Total variants in 109II1 | 131068 | |||
| None | Total variants in 109II3 | 123266 | |||
| None | Total shared variants unfiltered | 54232 | |||
| None | Total shared changes filtered vs. 181 controls | 447 | |||
| None | Subset of filtered heterozygous variants | 392 | |||
| None | Subset of filtered homozygous variants | 55 | |||
| None | Heterozygous variants MAF <0.005 of which | 328(of 392) | |||
| None | Heterozygous variants MAF <0.005 of which | 1 | indel | ||
| None | Heterozygous variants MAF <0.005 of which | 15 | 3UTR | ||
| None | Heterozygous variants MAF <0.005 of which | 5 | 5UTR | ||
| None | Heterozygous variants MAF <0.005 of which | 171 | intronic | ||
| None | Heterozygous variants MAF <0.005 of which | 37 | synonymous | ||
| ZNF295 | Heterozygous variants MAF <0.005 of which | 75 | nonsynonymous | ZNF295 (compound heterozygous) | No |
| None | Heterozygous variants MAF <0.005 of which | 11 | splice site | ||
| None | Heterozygous variants MAF <0.005 of which | 4 | stop gain | ||
| None | Heterozygous variants MAF <0.005 of which | 3 | downstream | ||
| None | Heterozygous variants MAF <0.005 of which | 2 | upstream | ||
| None | Heterozygous variants MAF <0.005 of which | 1 | mature mRNA | ||
| None | Heterozygous variants MAF <0.005 of which | 2 | non coding gene | ||
| None | Heterozygous variants MAF <0.005 of which | 1 | essent splice | ||
| None | Homozygous variants MAF <0.005 of which | 17(of 55) | |||
| None | Homozygous variants MAF <0.005 of which | 1 | indel | ||
| None | Homozygous variants MAF <0.005 of which | 2 | 3UTR | ||
| None | Homozygous variants MAF <0.005 of which | 10 | intronic | ||
| None | Homozygous variants MAF <0.005 of which | 2 | synonymous | ||
| DPYSL2 | Homozygous variants MAF <0.005 of which | 1 | Splice site | DPYSL2 (homozygous) | No |
| Hydin | Homozygous variants MAF <0.005 of which | 1 | stop gain | Hydin (homozygous) | yes |