Gene: RBFOX1

Alternate names for this Gene: 2BP1|A2BP1|FOX-1|FOX1|HRNBP1

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: RNA binding fox-1 homolog 1

Type of Gene: protein-coding

rs10500355 in RBFOX1 gene and Abnormality of refraction PMID 23474815 2013 Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.

PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs13337052 in RBFOX1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12933772 in RBFOX1 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12597084 in RBFOX1 gene and Allergic rhinitis (disorder) PMID 25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.

rs75885813 in RBFOX1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs12923795 in RBFOX1 gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs2343519 in RBFOX1 gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs13332522 in RBFOX1 gene and Attention deficit hyperactivity disorder PMID 30818988 2019 Genetic Markers of ADHD-Related Variations in Intracranial Volume.

rs368977885 in RBFOX1 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs17139085 in RBFOX1 gene and Biliary Atresia PMID 20460270 2010 Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.

rs11642387 in RBFOX1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs6500818 in RBFOX1 gene and Dengue Shock Syndrome PMID 22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

rs4787008 in RBFOX1 gene and Diabetic Retinopathy PMID 21441570 2011 Genome-wide meta-analysis for severe diabetic retinopathy.

rs3095508 in RBFOX1 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs145873257 in RBFOX1 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs192917960 in RBFOX1 gene and Glaucoma PMID 25027321 2014 Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.

rs2343519 in RBFOX1 gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs7187960 in RBFOX1 gene and Hepatitis B PMID 24162738 2013 New loci associated with chronic hepatitis B virus infection in Han Chinese.

rs17648524 in RBFOX1 gene and Hyperopia PMID 25233373 2014 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

rs75638798 in RBFOX1 gene and Impaired cognition PMID 26252872 2015 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

rs11076962 in RBFOX1 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs2191130 in RBFOX1 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

PMID 29728651 2018 SNPs (a total of 171) with a P < 1 × 10<sup>-7</sup> in the meta-analysis were further replicated in an independent sample (GS:SFHS, 2,659 MDD cases (diagnosed with DSM-IV) and 17,237 controls) and one additional risk locus (rs3785234 on 16p13.3, P = 1.57 × 10<sup>-8</sup>) was identified in the combined samples (a total of 92,809 cases and 263,840 controls).

PMID 27479909 2016 Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.

PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

rs12446308 in RBFOX1 gene and Malignant neoplasm of lung PMID 19414679 2009 Genome-wide analysis of survival in early-stage non-small-cell lung cancer.

rs9930139 in RBFOX1 gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs10500355 in RBFOX1 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs10775354 in RBFOX1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs17143122 in RBFOX1 gene and Peripheral Arterial Diseases PMID 27082954 2016 Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

rs870288 in RBFOX1 gene and Phospholipid measurement PMID 22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.

PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs10500355 in RBFOX1 gene and Refractive Errors PMID 23474815 2013 Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.

PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs4602043 in RBFOX1 gene and Rheumatoid Arthritis PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

rs13337052 in RBFOX1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12447542 in RBFOX1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 27846195 2017 Genome-wide association study of paliperidone efficacy.

rs1922585 in RBFOX1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs6500818 in RBFOX1 gene and Severe Dengue PMID 22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

rs4786847 in RBFOX1 gene and Smoking Behaviors PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

rs35450617 in RBFOX1 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs59325236 in RBFOX1 gene and Wheat Hypersensitivity PMID 31301374 2019 HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy.

rs11645781 in RBFOX1 gene and heart rate PMID 23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

rs11076962 in RBFOX1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.