Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Table 7 Transcription factor binding site

Gene	Description	Degree	Clinical significance	Reference
Transcription factors using JASPER database
FOXC1	Forkhead Box C1	239	WAGER syndrome	Genecards
			Microcephaly intellectual disability	Genecards
				[28, 29]
GATA2	GATA Binding Protein 2	200	Intellectual Disability	[34]
			Myelodysplastic syndrome	[31,32,33]
YY1	YIN-YANG-1	113	rett syndrome	Genecards
			Intellectual Disability	[37]
FOXL1	Forkhead Box L1	103	autism	[43]
NFIC	Nuclear Factor I C	96	Bipolar disorder	[38,39,40]
			Schizophrenia
PPARG	Peroxisome Proliferator Activated Receptor Gamma	85	Alzheimer disease	Genecards
E2F1	E2F Transcription Factor 1	85	Epilepsy	Genecards
PRRG4	Proline Rich And Gla Domain 4	33	WAGER syndrome	[44]
hsa-mir-92a-3p	microRNA	29	Autoimmune disease of CNS	Genecards
			Nervous system disease	Genecards
			Schizophrenia	[45]
			Autism	[46]

ISSN: 1755-8794