RBFOX1 (RNA binding fox-1 homolog 1)

2013-07-01 Affiliation

Identity

HGNC

RBFOX1

LOCATION

16p13.3

LOCUSID

54715

ALIAS

2BP1,A2BP1,FOX-1,FOX1,HRNBP1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000078328	ENST00000311745	Q9NWB1
ENSG00000078328	ENST00000340209	J3KNW3
ENSG00000078328	ENST00000355637	Q9NWB1
ENSG00000078328	ENST00000422070	B7Z1U7
ENSG00000078328	ENST00000436368	Q9NWB1
ENSG00000078328	ENST00000535565	F5H0M1
ENSG00000078328	ENST00000547338	Q9NWB1
ENSG00000078328	ENST00000547372	F8VZG9
ENSG00000078328	ENST00000547605	F8VR27
ENSG00000078328	ENST00000550418	Q9NWB1
ENSG00000078328	ENST00000551752	F8VZY7
ENSG00000078328	ENST00000552089	F8VRS4
ENSG00000078328	ENST00000553186	Q9NWB1
ENSG00000078328	ENST00000567470	H3BM62
ENSG00000078328	ENST00000570626	I3L1D4
ENSG00000078328	ENST00000585867	A0A286YFF2
ENSG00000078328	ENST00000620507	A0A087X2B1
ENSG00000078328	ENST00000641259	A0A286YEU2

Expression (GTEx)

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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443560	Breast Neoplasms	Disease	ClinicalAnnotation	associated		PD	25823661
PA452621	antineoplastic agents	Chemical	ClinicalAnnotation	associated		PD	25823661

References

Pubmed ID	Year	Title	Citations
19546859	2010	Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.	189
18794351	2008	Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2.	157
16260614	2005	Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.	149
18519826	2008	Molecular genetics of successful smoking cessation: convergent genome-wide association study results.	130
16362037	2006	Molecular basis of RNA recognition by the human alternative splicing factor Fox-1.	105
17503474	2007	Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.	97
28969442	2018	Psychiatric Genomics: An Update and an Agenda.	88
19688295	2009	Fox-1 family of RNA-binding proteins.	78
22730494	2012	RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.	78
16537540	2006	Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16.	65

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/rbfox1