RBFOX1 Chromosome 16
RNA binding fox-1 homolog 1
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What This Gene Does
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"RNA binding motif containing|MicroRNA protein coding host genes|RNA binding fox-1 homologs"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000078328
Associated Conditions (7)
Idiopathic generalized epilepsy
Inborn genetic diseases
Intellectual disability
autosomal dominant 46
Neurodevelopmental disorder
RBFOX1-related disorder
Colorectal cancer
Key Variants
RS1057521725
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Inborn genetic diseases, Intellectual disability
Health Risk
RS139251660
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
Health Risk
RS141919506
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, RBFOX1-related disorder, Inborn genetic diseases
Health Risk
RS145351963
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Inborn genetic diseases, Idiopathic generalized epilepsy
Health Risk
RS147306562
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Inborn genetic diseases, Idiopathic generalized epilepsy
Health Risk
RS376061440
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Inborn genetic diseases, Idiopathic generalized epilepsy
Health Risk
RS1064794750
Likely pathogenic
Health Risk
RS2509828295
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2510618048
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2093621567
Pathogenic
Colorectal cancer, Colorectal cancer
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057521725 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Inborn genetic diseases, Intellectual disability |
| RS139251660 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Idiopathic generalized epilepsy |
| RS141919506 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, RBFOX1-related disorder, Inborn genetic diseases |
| RS145351963 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Inborn genetic diseases, Idiopathic generalized epilepsy |
| RS147306562 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Inborn genetic diseases, Idiopathic generalized epilepsy |
| RS376061440 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Inborn genetic diseases, Idiopathic generalized epilepsy |
| RS1064794750 | Health Risk | Likely pathogenic | — |
| RS2509828295 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510618048 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2093621567 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |