RBFOX1

RNA binding fox-1 homolog 1

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]

Known Variants474 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13337877	16:5,456,328	G/A	intron variant	—
rs8046862	16:5,557,731	A/G	intron variant	—
rs870288	16:5,585,852	A/G	intron variant	—
rs112220699	16:5,607,070	T/C	intron variant	—
rs12933048	16:5,694,378	A/T	—	—
rs7184706	16:5,695,230	G/A	intron variant	—
rs11076960	16:5,795,704	C/T	intron variant	—
rs67852439	16:5,819,842	A/G	intron variant	—
rs9923553	16:5,825,579	A/G	intron variant	—
rs13332522	16:5,829,204	G/A	—	—
rs574136530	16:5,861,386	C/T	—	—
rs193193439	16:5,910,492	C/T	—	—
rs192917960	16:5,919,655	C/T	intron variant	—
rs74774288	16:5,922,263	G/T	intron variant	—
rs1369924	16:5,924,291	A/C	intron variant	—
rs146231359	16:5,966,969	C/A	regulatory region variant	—
rs74006515	16:5,982,389	G/C	—	—
rs12923176	16:6,049,956	G/A	intron variant	—
rs144510926	16:6,069,891	C/G	—	likely benign
rs17139207	16:6,086,272	A/G	intron variant	—
rs12926282	16:6,094,557	C/A	intron variant	—
rs17139244	16:6,105,213	A/G	upstream gene variant	—
rs1906060	16:6,108,430	C/T	intron variant	—
rs6500742	16:6,109,221	T/C	coding sequence variant	—
rs2020270	16:6,110,251	C/G	intron variant	—
rs4786809	16:6,111,253	C/T	intron variant	—
rs6500744	16:6,113,661	C/T	intron variant	—
rs4146812	16:6,115,826	G/A	intron variant	—
rs4124065	16:6,128,400	G/A	—	—
rs889699	16:6,134,527	A/G	intron variant	—
rs192106762	16:6,137,498	A/G	intron variant	—
rs4786816	16:6,148,030	A/G	intron variant	—
rs7403856	16:6,156,326	A/G	intron variant	—
rs2343522	16:6,163,660	G/C	—	—
rs77368405	16:6,175,152	A/G	intron variant	—
rs12928070	16:6,179,457	G/A	intron variant	—
rs79628505	16:6,181,061	C/G	intron variant	—
rs12928387	16:6,304,113	C/A	—	—
rs716508	16:6,336,912	C/T	intron variant	—
rs113726301	16:6,345,251	A/C	—	—
rs928189351	16:6,366,990	C/T	—	likely benign
rs12446308	16:6,417,933	A/G	intron variant	—
rs7498702	16:6,527,348	T/C	intron variant	—
rs7187508	16:6,533,549	C/A	—	benign
rs79729951	16:6,564,215	C/T	intron variant	—
rs6500798	16:6,637,181	C/A	intron variant	—
rs76668186	16:6,686,083	A/T	intron variant	—
rs11643447	16:6,699,261	A/T	intron variant	—
rs10083803	16:6,701,400	T/G	—	—
rs1799717079	16:6,704,645	C/T	—	likely benign
rs2160040	16:6,746,206	A/G	intron variant	—
rs7498659	16:6,777,645	C/A	—	—
rs6500818	16:6,817,375	C/T	intron variant	—
rs561257093	16:6,836,199	C/G	—	—
rs11645781	16:6,896,128	A/C	—	—
rs12921846	16:6,910,385	A/G	—	—
rs146950047	16:6,932,569	C/T	intron variant	—
rs6500882	16:6,984,781	T/C	—	—
rs7194062	16:7,130,045	A/T	—	—
rs12709173	16:7,132,200	G/C	intron variant	—
rs11866781	16:7,139,173	T/C	intron variant	—
rs75885813	16:7,141,263	A/T	intron variant	—
rs1478693	16:7,164,219	T/G	intron variant	—
rs9302841	16:7,227,122	T/A	intron variant	—
rs59875092	16:7,236,268	C/G	—	—
rs12709186	16:7,249,472	G/C	—	—
rs4494563	16:7,330,128	C/T	intron variant	—
rs1196867548	16:7,383,006	C/G	—	uncertain significance
rs771567004	16:7,383,011	G/A	—	likely benign
rs147306562	16:7,383,013	C/G	—	conflicting classifications of pathogenicity
rs1427959997	16:7,383,020	A/T	—	likely benign
rs1389613810	16:7,383,024	C/G	—	uncertain significance
rs1159971428	16:7,383,026	C/T	—	likely benign
rs1347157111	16:7,383,027	C/T	—	likely benign
rs145351963	16:7,383,034	C/A	—	conflicting classifications of pathogenicity
rs759616730	16:7,383,037	A/T	—	uncertain significance
rs767727470	16:7,383,038	T/C	—	likely benign
rs1259585181	16:7,383,040	G/T	—	uncertain significance
rs757066841	16:7,383,041	C/T	—	likely benign
rs778728291	16:7,383,042	G/A	—	uncertain significance
rs779418628	16:7,383,048	A/G	—	uncertain significance
rs781023213	16:7,383,053	T/C	—	likely benign
rs770264923	16:7,383,056	A/G	—	likely benign
rs773668882	16:7,383,057	C/T	—	uncertain significance
rs376061440	16:7,383,058	C/T	—	uncertain significance
rs147261087	16:7,383,059	G/A	—	benign
rs201242998	16:7,383,061	C/T	—	uncertain significance
rs1325337150	16:7,383,063	G/T	—	uncertain significance
rs375723096	16:7,383,064	C/T	—	uncertain significance
rs775667685	16:7,383,065	T/G	—	likely benign
rs760925781	16:7,383,066	C/G	—	uncertain significance
rs1603623680	16:7,383,070	A/G	—	uncertain significance
rs1378405539	16:7,383,071	C/A	—	uncertain significance
rs765010942	16:7,383,072	C/G	—	uncertain significance
rs998828744	16:7,383,076	C/T	—	uncertain significance
rs2144461588	16:7,383,077	T/C	—	likely benign
rs1180011308	16:7,383,078	G/T	—	uncertain significance
rs1064794750	16:7,383,081	C/G	missense variant	pathogenic
rs147525462	16:7,383,085	T/C	—	uncertain significance
rs766344856	16:7,383,086	T/G	—	uncertain significance

Showing 100 of 474 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.