Table 1

ASD and SCHZ genes implicated in gene expression regulation

Gene	Name/protein	Function	Risk/other disease	References
Chromatin remodelling, transcription, translation
MECP2	Methyl-CpG-binding protein 2	Histone methylation, chromatin remodelling, transcriptional repression	↑ ASD + Rett syndrome	11
FMR1	Fragile X mental retardation 1/FMRP	mRNA binding, maturation, transport to cytosol	↑ ASD + fragile X syndrome	12
EIF4E	Eukaryotic translation initiation 4E	CYFIP1-EIF4E-FMR1 complex mediates translational repression	↑ ASD + fragile X syndrome	35 40
CYFIP1	Cytoplasmic FMRP-interacting protein 1	CYFIP1-EIF4E-FMR1 complex mediates translational repression	↑ ASD +SCHZ + fragile X syndrome	35 40
MEF2C	Myocyte-specific enhancer factor 2C	MEF2 transcription factor family, regulates synapse number	↑ ASD in de novo mutations	77
HDAC4	Histone deacetylase 4	Histone deacetylation, chromatin remodelling, transcriptional repression	ASD	78
CHD8	Chromodomain-helicase-DNA-binding protein 8	Transcriptional regulator, represses CTNNB1, regulates brain growth, interacts with COMPASS	↑ ASD in de novo mutations + macrocephaly	57 58
CHD7	Chromodomain-helicase-DNA-binding protein 7	Transcriptional regulator, positive regulator of rRNA biogenesis	ASD + CHARGE syndrome	79
KMT2A	Lysine (K)-specific methyltransferase 2A	Subunit of Histone methyltransferase COMPASS complex	ASD in de novo mutations	57 58
KMT2C	Lysine (K)-specific methyltransferase 2C	Subunit of Histone methyltransferase COMPASS complex	ASD in de novo mutations	57 58
SMARCC1,2	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin C1 and 2	Chromatin remodelling, regulates neurogenesis	ASD variants	57
SMARCA2	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin A2	Chromatin remodelling, regulates neurogenesis	SCHZ variants	80
TBR1	T-box brain 1	Transcription factor, regulates neurogenesis	↑ ASD in de novo mutations	81
FOXP1	Forkhead Box P1	Transcription factor, mTOR signalingfoxp1	ASD in de novo mutations	73
CTNNB1	Catenin β1	Transcription factor, activates WNT and regulates brain growth	ASD	57 58
EIF4E	Eukaryotic translation initiation factor 4E	cap-dependent translation downstream of mTOR. Regulates other ASD genes with synaptic roles	ASD variants	82
TAF1L	TAF1 RNA pol II, TATA box binding protein (TBP)-associated factor	RNA pol II-mediated transcription	ASD in de novo mutations	73
TAF13	Transcription initiation factor TFIID subunit 13	RNA pol II-mediated transcription	SCHZ de novo mutations	40
SETD1A	SET domain containing 1A	Subunit of histone methyltransferase COMPASS complex	↑ SCHZ, several mutations	55 83
RBBP5	Retinoblastoma-binding protein 5	Subunit of Histone methyltransferase COMPASS complex	SCHZ variants	84
C7orf60	Probable methyltransferase BTM2 homologue	Probable S-adenosyl-L-methionine-dependent methyltransferase	SCHZ de novo mutations	40
TRRAP	Transformation/transcription domain-associated protein	Component of the NuA4 histone acetyltransferase complex	SCHZ variants	85
UBR5	E3 ubiquitin-protein ligase	Promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites	SCHZ variants	83
KDM2B	Lysine (K)-specific demethylase 2B	Demethylates 'Lys-4' and 'Lys-36' of histone H3	SCHZ variants	83
KDM5C	Lysine (K)-specific demethylase 5C	demethylates 'Lys-4' of histone H3	SCHZ variants	83
Signalling
NF-1	Neurofibromin-1	mTOR signalling, regulation of cell size	↑ ASD + neurofibromatosis	86
PTEN	Phosphatase and tensin homologue	mTOR signalling, regulation of cell size	↑ ASD + PTEN macrocephaly	87
SYNGAP1	RAS GTPase-activating protein 1	mTOR signalling, regulation of cell size	ASD de novo mutations	35 40
TSC2	Tuberous sclerosis 2	mTOR signalling, regulation of cell size	↑ ASD + tuberous sclerosis	88
DYRK1A	Dual-specificity tyrosine phosphorylation regulated kinase 1A	Phosphorylation of actin complexes at synapse	ASD de novo mutations	89

ASD,autism spectrum disorder; SCHZ, schizophrenia; SWI/SNF, switching/sucrose non-fermenting; FMRP, Fragile X mental retardation protein; mTOR, mammalian target of rapamycin.