Gene content of rare CNV.

This list contains all genes in rare CNVs found in the four groups. We determined if a gene was a conserved coding region using the following criteria: sequence variants: PLI≥0.85, z-score for missense variants and/or synonymous variants ≥3. Deletions or duplications: del score ≥ 1, dup score ≥ 1 and cnv score ≥ 1. Additionally, genes impacted more than once by a deletion, or a duplication were not considered a CCR. If these criteria are met, this gene is marked YES in the CCR column. We determined whether the gene is a “ENS gene” based on if the gene expression is higher in isolated “ENS cells” (with and without the addition of GDNF) compared to the expression in other intestinal cells or total intestines in mice [41,42]. These genes are marked YES in the “Mouse ENS E11-E15.5 gene” column. Filtering on CCR, “ENS gene” and CN loss results in our candidate gene list. Note that in addition to the nine genes we disrupted in zebrafish DPCR1 and ZSCAN31 are included. These genes were excluded as they do not contain a zebrafish orthologue as depicted in the second sheet “zebrafish orthologues”. Sheet 3 “count tables” contains the count values used for Fig 2.
(XLSX)