Property Summary

NCBI Gene PubMed Count 66
Grant Count 76
R01 Count 42
Funding $7,075,586.39
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 0.002
ependymoma -4.500 0.000
oligodendroglioma -3.000 0.000
glioblastoma -4.900 0.000
osteosarcoma 1.116 0.000
medulloblastoma -2.000 0.009
atypical teratoid / rhabdoid tumor -5.300 0.000
medulloblastoma, large-cell -2.200 0.000
primitive neuroectodermal tumor -3.200 0.003
pediatric high grade glioma -4.300 0.000
pilocytic astrocytoma -4.000 0.000
subependymal giant cell astrocytoma -3.135 0.019
Pick disease -2.200 0.013
ovarian cancer -1.100 0.000

Synonym

Accession Q9NWB1 Q7Z7I7 Q8TAE3 Q8TAF2 Q8WYB2 Q9NS20
Symbols 2BP1
FOX1
A2BP1
FOX-1
HRNBP1

Gene

PDB

2ERR   2N82   4ZKA  

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.
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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.
More...