Fig. 1: hcASD gene expression is enriched in ENS cells and individuals with pathogenic variants in these genes experience GI issues.

a Enrichment of 252 hcASD genes is higher in Enteric Neuron Progenitors (ENCCs) and Enteric Neurons compared to all other cell types in single-cell RNA-sequencing data from the human prenatal gut²⁶. b 252 hcASD genes are enriched in ENCCs and Enteric Neurons compared to all other Non-ENS cells in the human prenatal gut. A one-way Kruskal-Wallis test was performed, followed by Wilcoxon rank-sum tests and Bonferroni adjustment for multiple comparisons. Non-ENS vs ENCCs padj = 5.20e⁻⁹¹, Non-ENS vs Enteric neurons padj = 0, ENCCs vs Enteric Neurons padj = 5.90e⁻⁸¹. c–e The number of individuals affected and the total number of people surveyed is tallied at the end of each bar. c Simons Searchlight data documenting the percentage of affected individuals (teal bars) and their unaffected family members (gray bars) who reported GI issues in caregiver surveys. d Citizen Health medical record data showing the percentage of individuals with a SYNGAP1, SCN2A, CHD2, STXBP1 or SLC6A1 genetic variant with medical record diagnoses related to GI dysmotility. e Citizen Health medical record data by variant for dysmotility phenotypes including constipation, abdominal pain, and diarrhea.