Skip to main content

Table 2 Genes carrying de novo mutations

From: Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gene Number of amino acids Co-occurrence with RET DNM Burden test meta-analyses (uncorrected p value) Gene constraint prediction (AGTU; ExAC)a Zebrafish ENS phenotype Gut expression (human; mouse; zebrafish)b
PLEKHG5 1062 No 0.3997 No; No NT Yes; Yes; ND
KDM4A 1064 No 0.1190 No; Yes No Yes; Yes; ND
ISG20L2 353 No 0.4949 No; No No Yes; Yes; ND
HMCN1 5635 Yes 0.9789 No; No No Yes; Yes; ND
AFF3 1226 No 0.4745 No; Yes No Yes; Yes; ND
CKAP2L 745 No 0.0178 No; No No Yes; Yes: ND
COL6A3 3177 Yes 0.6398 No; No NT Yes; Yes; ND
CCR2 374 No 0.4745 No; No No Yes; Yes; ND
MAP4 1152 No 0.4851 No; Yes NT Yes; No; ND
SCUBE3 993 Yes 0.7133 Yes; Yes No Yes; Yes; ND
DENND3 1198 No 0.5977 No; No Yes Yes; Yes; Yes
DAB2IP 1189 No 0.9819 No; Yes No Yes; Yes; ND
RET 1114 - 0.0078 No; Yes Yes Yes; Yes; ND
TBATA 351 Yes 0.8028 NA; No Yes No; Yes; Yes
NUP98 1817 No 0.7243 No; Yes Yes Yes; Yes; Yes
RBM25 843 Yes 0.0846 Yes; Yes NT Yes; Yes; ND
TUBG1 451 Yes 1.0000 Yes; Yes NT Yes; Yes; ND
VEZF1 521 No 0.6717 No; Yes No Yes; Yes; ND
ZNF57 555 No 0.3808 No; No NT Yes; No; ND
NCLN 563 No 0.4949 No; No Yes Yes; Yes; Yes
MED26 600 No 1.0000 No; Yes NT Yes; Yes; ND
  1. aGenes evolutionarily constrained as per AGTU’s server and ExAC database: “No” for not constrained, “Yes” for constrained, “NA” for not available.
  2. bData from in-house human induced pluripotent stem cell-derived neural crest, mouse expression data, and RT-PCR and in situ hybridization in zebrafish; ND not done.
  3. NT not tested (gene carries synonymous mutation and/or has no ortholog in zebrafish)