RBFOX1 (Entrez ID: 54715)

Entrez Gene ID	54715
Official Gene Symbol	RBFOX1 (GeneCards)
Full name	RNA binding fox-1 homolog 1
Location	16p13.3
Other ids	Vega : OTTHUMG00000129551 MIM : 605104 HGNC : HGNC:18222 Ensembl : ENSG00000078328
Other names	2BP1, FOX1, A2BP1, FOX-1, HRNBP1
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. [provided by RefSeq, Nov 2011]

Variants

Found 44 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
19342	54715	RBFOX1	16	6859578	6859578	Asymptomatic	HiSeq X Ten
19354	54715	RBFOX1	16	7674792	7674792	Asymptomatic	HiSeq X Ten
19355	54715	RBFOX1	16	8129747	8129747	Asymptomatic	HiSeq X Ten
19387	54715	RBFOX1	16	6926502	6926502	Asymptomatic	HiSeq X Ten
19392	54715	RBFOX1	16	6544266	6544266	Asymptomatic	HiSeq X Ten
19395	54715	RBFOX1	16	7877973	7877973	Asymptomatic	HiSeq X Ten
19401	54715	RBFOX1	16	6316550	6316550	Asymptomatic	HiSeq X Ten
19406	54715	RBFOX1	16	6425629	6425629	Asymptomatic	HiSeq X Ten
19408	54715	RBFOX1	16	7906097	7906097	Asymptomatic	HiSeq X Ten
19417	54715	RBFOX1	16	7791686	7791686	Asymptomatic	HiSeq X Ten
19454	54715	RBFOX1	16	7713203	7713203	Asymptomatic	HiSeq X Ten
19482	54715	RBFOX1	16	6478852	6478852	Asymptomatic	HiSeq X Ten
19491	54715	RBFOX1	16	7636193	7636193	Asymptomatic	HiSeq X Ten
19516	54715	RBFOX1	16	6549819	6549819	Asymptomatic	HiSeq X Ten
19517	54715	RBFOX1	16	7561073	7561073	Asymptomatic	HiSeq X Ten
19534	54715	RBFOX1	16	7418285	7418285	Asymptomatic	HiSeq X Ten
19551	54715	RBFOX1	16	8392850	8392850	Asymptomatic	HiSeq X Ten
19555	54715	RBFOX1	16	6911044	6911044	Asymptomatic	HiSeq X Ten
19562	54715	RBFOX1	16	7853870	7853870	Asymptomatic	HiSeq X Ten
19563	54715	RBFOX1	16	8435005	8435005	Asymptomatic	HiSeq X Ten
19565	54715	RBFOX1	16	7677290	7677290	Asymptomatic	HiSeq X Ten
19574	54715	RBFOX1	16	7069112	7069112	Asymptomatic	HiSeq X Ten
19576	54715	RBFOX1	16	6764926	6764926	Asymptomatic	HiSeq X Ten
19578	54715	RBFOX1	16	6951299	6951299	Asymptomatic	HiSeq X Ten
19597	54715	RBFOX1	16	6793530	6793530	Asymptomatic	HiSeq X Ten
19598	54715	RBFOX1	16	6910452	6910452	Asymptomatic	HiSeq X Ten
19614	54715	RBFOX1	16	8472191	8472191	Asymptomatic	HiSeq X Ten
19653	54715	RBFOX1	16	6485785	6485785	Asymptomatic	HiSeq X Ten
19665	54715	RBFOX1	16	6948225	6948225	Asymptomatic	HiSeq X Ten
19673	54715	RBFOX1	16	8200734	8200734	Asymptomatic	HiSeq X Ten
19674	54715	RBFOX1	16	8351222	8351222	Asymptomatic	HiSeq X Ten
19681	54715	RBFOX1	16	6913435	6913435	Cockayne syndrome	HiSeq X Ten
19682	54715	RBFOX1	16	6609628	6609628	Cockayne syndrome	HiSeq X Ten
19731	54715	RBFOX1	16	8488344	8488344	Xeroderma Pigmentosum	HiSeq X Ten
23863	54715	RBFOX1	16	6647184	6647184	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28131	54715	RBFOX1	16	7223486	7223486	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28136	54715	RBFOX1	16	7348645	7348645	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28174	54715	RBFOX1	16	7561514	7561514	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28175	54715	RBFOX1	16	8562464	8562464	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28196	54715	RBFOX1	16	6600128	6600128	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28197	54715	RBFOX1	16	7207675	7207675	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28198	54715	RBFOX1	16	7885783	7885783	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
28221	54715	RBFOX1	16	7482432	7482432	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
34547	54715	RBFOX1	16	7427966	7427966	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing