RBFOX1 (RNA binding fox-1 homolog 1)

2013-07-01  

Identity

HGNC
RBFOX1
LOCATION
16p13.3
LOCUSID
54715
ALIAS
2BP1,A2BP1,FOX-1,FOX1,HRNBP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54715
MIM: 605104
HGNC: 18222
Ensembl: ENSG00000078328

Variants:

dbSNP: 54715
ClinVar: 54715
TCGA: ENSG00000078328
COSMIC: RBFOX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078328ENST00000311745Q9NWB1
ENSG00000078328ENST00000340209J3KNW3
ENSG00000078328ENST00000355637Q9NWB1
ENSG00000078328ENST00000422070B7Z1U7
ENSG00000078328ENST00000436368Q9NWB1
ENSG00000078328ENST00000535565F5H0M1
ENSG00000078328ENST00000547338Q9NWB1
ENSG00000078328ENST00000547372F8VZG9
ENSG00000078328ENST00000547605F8VR27
ENSG00000078328ENST00000550418Q9NWB1
ENSG00000078328ENST00000551752F8VZY7
ENSG00000078328ENST00000552089F8VRS4
ENSG00000078328ENST00000553186Q9NWB1
ENSG00000078328ENST00000567470H3BM62
ENSG00000078328ENST00000570626I3L1D4
ENSG00000078328ENST00000585867A0A286YFF2
ENSG00000078328ENST00000620507A0A087X2B1
ENSG00000078328ENST00000641259A0A286YEU2

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD25823661
PA452621antineoplastic agentsChemicalClinicalAnnotationassociatedPD25823661

References

Pubmed IDYearTitleCitations
379035062023Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.0
379035062023Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.0
345315232022Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.11
359486612022Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits.16
345315232022Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.11
359486612022Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits.16
328651152021RNA-binding proteins in neurological development and disease.30
340390762021Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.0
328651152021RNA-binding proteins in neurological development and disease.30
340390762021Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.0
325261972020Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology.25
325683662020Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease.31
326001522020From Rare Copy Number Variants to Biological Processes in ADHD.14
325261972020Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology.25
325683662020Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease.31

Citation

Dessen P

RBFOX1 (RNA binding fox-1 homolog 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53438