Property Summary

NCBI Gene PubMed Count 66
PubMed Score 92.40
PubTator Score 68.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytic glioma -3.100 2.3e-03
ependymoma -4.500 5.3e-17
oligodendroglioma -3.000 1.5e-18
glioblastoma -4.900 2.8e-08
osteosarcoma 1.116 1.2e-04
medulloblastoma -2.000 9.4e-03
atypical teratoid / rhabdoid tumor -5.300 8.8e-13
medulloblastoma, large-cell -2.200 1.2e-05
primitive neuroectodermal tumor -3.200 2.6e-03
pediatric high grade glioma -4.300 2.8e-10
pilocytic astrocytoma -4.000 3.1e-12
subependymal giant cell astrocytoma -3.135 1.9e-02
Pick disease -2.200 1.3e-02
ovarian cancer -1.100 4.8e-05

Protein-protein Interaction (11)

Gene RIF (41)

PMID Text
26687839 Cytoplasmic Rbfox1 target mRNAs were enriched in genes involved in cortical development and autism
26619120 study identifies regulation of RNA splicing by RBFox1 as an important player in transcriptome reprogramming during heart failure that influence pathogenesis of the disease
26274327 The Genome-wide association study showed a significant association for a variant within the RBFOX1 gene with generalized anxiety disorder.
26188062 Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy
26174448 This study suggested that exonic RBFOX1 deletions are involved in the broad spectrum of focal and generalized epilepsies.
26116573 This study underlines that tightly regulated splicing is necessary for unconstrained cardiac function and renders the splicing regulator rbfox1 an interesting target for investigation in human heart failure and cardiomyopathy.
26092620 The SNP rs1478697 in A2BP1 may be associated with antipsychotic induced weight gain induced by 8-week treatment with olanzapine.
25524026 RBFOX proteins can facilitate the splicing of micro-exons. We also found that PTBP1 likely regulates the inclusion of micro-exons, possibly by repressing the inclusion of micro-exons that are enhanced by RBFOX proteins and other splicing factors.[RBFOX]
25211016 Reduced RBFOX1 activity in myotonic dystrophy type 1 tissues may amplify several of the splicing alterations caused by the deficiency in MBNL1.
25125370 RBFOX1 promotes the skipping of APP exon 7, but not the inclusion of exon 8.
25043849 Aberrantly expressed FOX genes and their downstream targets are involved in the pathogenesis of HL via deregulation of B-cell differentiation and may represent useful diagnostic markers and/or therapeutic targets.
24938762 Data indicate that RNA binding protein RBFOX1 gene expression was detected in lymphoblastoid cell lines but not in lymphocytes.
24825461 Our results support the earlier findings of A2BP1 and TGFB1 being osteoarthritis susceptibility genes and provide evidence of a possible gene-gene interaction in the genetic influence on hand OA predisposition.
24290388 RBFOX1 regulates expression of large genetic networks during early neuronal development, and haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, and epilepsy.
24039908 Exome sequencing of 242 rolandic epilepsy patients revealed two novel probably deleterious variants in RBFOX1, a frameshift mutation (p.A233Vfs*74) and a hexanucleotide deletion (p.A299_A300del), and a novel nonsense mutation in RBFOX3 (p.Y287*).
23918370 Data indicate that reintroduction of A2BP1 or Myt1L in glioblastoma multiforme (GBM) cell lines and glioma stem cells profoundly inhibited tumorigenesis.
23474815 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.
23350840 Variable expressivity, incomplete penetrance, and heterogeneous cosegregation patterns suggest that RBFOX1 deletions act as susceptibility factor in a genetically complex etiology of idiopathic generalized epilepsy
23286373 Loss of RBFOX1 may explain the anomalous splicing activity associated with colorectal cancer.
22730494 RBFOX1 regulates RNA splicing and transcriptional networks in human neuronal development.
22184459 hnRNP H1 and TFG modulate the splicing activity of RBFOX1/2.
20724578 Observational study of gene-disease association. (HuGE Navigator)
20600896 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20153395 the A2BP1 gene might play a pivotal role for susceptibility to Primary biliary cirrhosis
20153395 Observational study of gene-disease association. (HuGE Navigator)
19688295 Studies indicate that the Fox-1 family specifically recognizes the (U)GCAUG stretch in regulated exons or in flanking introns, and either promotes or represses target exons.
19567891 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19546859 Observational study of gene-disease association. (HuGE Navigator)
19508968 Five single-nucleotide polymorphisms (SNPs) of ataxin 2 binding protein 1 had a likelihood of association with hand osteoarthritis.
19508968 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19414679 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19308021 Observational study of gene-disease association. (HuGE Navigator)
18794351 predict thousands of Fox-1/2 targets with conserved binding sites, at a false discovery rate of approximately 24%, including many validated experimentally, suggesting a surprisingly extensive splicing regulatory networks
18573872 Fox-1/Fox-2 proteins block prespliceosome complex formation at two distinct steps through binding to two functionally important UGCAUG elements.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17503474 A2BP1 may affect susceptibility or cause autism in a subset of patients
17101796 These results define a critical role for Fox-1 and Fox-2 proteins in exon 4 inclusion of calcitonin/CGRP pre-mRNA and establish a regulatory network that controls the fate of exon 4.
16537540 Fox-1 and Fox-2 splicing factors have roles in alternative splicing of protein 4.1R
16362037 These results demonstrate the unusual molecular mechanism of sequence-specific RNA recognition by Fox-1, which is exceptional in its high affinity for a defined but short sequence element.
16260614 Fox-1 and Fox-2 isoforms specifically activate splicing of neuronally regulated exons, which requires UGCAUG enhancer elements

AA Sequence

MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQ      1 - 70
THSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQF     71 - 140
GKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWK    141 - 210
LNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVY    211 - 280
NTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAP    281 - 350
TYGVGAMNAFAPLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY                           351 - 397
//

Text Mined References (68)

PMID Year Title
26687839 2016 Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes.
26619120 2016 RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure.
26274327 2015 Generalised Anxiety Disorder--A Twin Study of Genetic Architecture, Genome-Wide Association and Differential Gene Expression.
26188062 2015 Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.
26174448 2015 Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
26116573 2015 RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish.
26092620 2015 A2BP1 gene polymorphisms association with olanzapine-induced weight gain.
25524026 2015 RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts.
25416956 2014 A proteome-scale map of the human interactome network.
25233373 2014 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
25211016 2014 RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.
25125370 2014 Alternative splicing regulation of APP exon 7 by RBFox proteins.
25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.
25043849 2014 Deregulated FOX genes in Hodgkin lymphoma.
25027321 2014 Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
24938762 Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of Italian discordant autism spectrum disorders sib-pairs.
24825461 2014 Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
24290388 2013 Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.
24039908 2013 RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
24002674 2014 Genome-wide association study and meta-analysis of intraocular pressure.
23918370 2013 From the Cover: Neutralization of terminal differentiation in gliomagenesis.
23728906 2013 A genome-wide association study of sleep habits and insomnia.
23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
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.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
23350840 2013 Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
23286373 2013 Analysis of colorectal cancers in British Bangladeshi identifies early onset, frequent mucinous histotype and a high prevalence of RBFOX1 deletion.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22730494 2012 RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
22184459 2012 Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2.
22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.
21441570 2011 Genome-wide meta-analysis for severe diabetic retinopathy.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20724578 2010 Evaluation of A2BP1 as an obesity gene.
20600896 2010 Genome-wide association study of vitamin D concentrations in Hispanic Americans: the IRAS family study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20153395 2010 A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients.
19875103 2010 Genomewide association study of movement-related adverse antipsychotic effects.
19688295 2009 Fox-1 family of RNA-binding proteins.
19567891 2009 Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
19546859 2010 Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
19508968 2009 A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium.
19414679 2009 Genome-wide analysis of survival in early-stage non-small-cell lung cancer.
19308021 2009 Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.
19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
18978788 2008 Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines.
18951430 2008 Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
18846501 2008 Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
18794351 2008 Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2.
18573872 2008 Repression of prespliceosome complex formation at two distinct steps by Fox-1/Fox-2 proteins.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
17503474 2007 Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
17101796 2007 Role for Fox-1/Fox-2 in mediating the neuronal pathway of calcitonin/calcitonin gene-related peptide alternative RNA processing.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16537540 2006 Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16.
16362037 2006 Molecular basis of RNA recognition by the human alternative splicing factor Fox-1.
16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11471052 2001 Identification and expression of a mouse ortholog of A2BP1.
10814712 2000 A novel protein with RNA-binding motifs interacts with ataxin-2.