RBFOX1

Chr 16

RNA binding fox-1 homolog 1

Also known as: 2BP1, A2BP1, FOX-1, FOX1, HRNBP1

NCBI Gene: 54715ENSG00000078328UniProt: Q9NWB1

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]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
52
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.34
LOEUF· LoF intol.
LOF
Mechanism· G2P
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GeneReview available — RBFOX1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.34LOEUF
pLI 0.953
Z-score 4.12
OE 0.15 (0.07–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.20Z-score
OE missense 0.97 (0.88–1.07)
271 obs / 280.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.15 (0.07–0.34)
0≤0.351.4
Missense OE?0.97 (0.88–1.07)
0≤0.61.4
Synonymous OE?1.39
0≤1.21.6
LoF obs/exp: 4 / 27.2Missense obs/exp: 271 / 280.2Syn Z: -3.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RBFOX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients