Function and association data for the nine transcriptional regulators chosen for analysis
| Protein | function | Target | SFARI score | EAGLE score | Associated disorders | Mouse phenotype |
|---|---|---|---|---|---|---|
| ASH1L | Histone methyltransferase | H3 lysine 36 | 1 | 14.5 | Emerging MCA/ID disorder | Yes |
| CHD8 | Chromodomain helicase | Chromatin remodeling | 1 | 97.65 | CHD8 NDD | Yes |
| DNMT3A | DNA methyltransferase | DNA | 1 | 15.9 | DNMT3A overgrowth syndrome | Yes |
| KDM6B | Histone demethyltransferase | H3 lysine 27 | 1 | 13.75 | Stolerman NDD | Yes |
| KMT2C | Histone methyltransferase | H3 lysine 4 | 1 | – | Kleefstra syndrome 2 | Yes |
| MBD5 | Transcription regulator | Nonenzymatic histone regulator | 1 | 46.6 | MAND, 2q34.1 microdeletion syndrome | Yes |
| MED13L | Mediator complex protein | RNA Pol II target genes | 1 | 35 | MRFACD syndrome | Yes |
| SETD5 | Histone methyltransferase | H3 lysine 36 | 1 | 28.05 | — | Yes |
| TBR1 | Transcription factor | Developmental gene programs | 1 | — | — | Yes |
[i] A SFARI gene score of “1” indicates high confidence for implication in autism spectrum disorder. Evaluation of autism gene link evidence (EAGLE) score ranges from six (limited) to 12+ (definitive) roles in autism for validated targets. Em-dashes indicate no known disorder or calculated EAGLE score.