Table 2 Genes carrying de novo mutations
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 |