Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

RBFOX1

contributors: mct - updated : 20-12-2017

HGNC name	RNA binding protein, fox-1 homolog (C. elegans) 1
HGNC id	18222

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   loss of RBFOX1 causes an increase in excitability of the neuronal population of the dentate gyrus, and seizures constitutional   deletion     in genetic generalised epilepsy (GGE) constitutional       loss of function haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, and epilepsy

Susceptibility

to autism spectrum disorder to rolandic epilepsy (RE) to lower blood pressure

Variant & Polymorphism other	de novo copy number variant in autism spectrum disorder
	a frameshift mutation (p.A233Vfs*74) and a hexanucleotide deletion (p.A299_A300del), associated to rolandic epilepsy
	multiple rare, coding variants in RBFOX1 associated with reduced systolic blood pressure (SBP)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Rbfox1 downregulation and altered Capn3 splicing by Frg1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)