RBFOX1 — RNA binding fox-1 homolog 1

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

119PubMed Papers

#3,975 · top 20% of 19K genes

20Diseases

top 36%

0Drugs

16Pathogenic Variants

top 44%

Highly ConstrainedExperimental GO EvidenceSwiss-Prot Reviewed

cytoplasmic stress granulenuclear stress granuleprotein bindingcytoplasmRolandic epilepsyself-limited epilepsy with centrotemporal spikesmajor depressive disordergenetic disorder

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

RNA binding fox-1 homolog 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

Rolandic epilepsyOpen Targets

0.48Moderate

self-limited epilepsy with centrotemporal spikesOpen Targets

0.47Moderate

major depressive disorderOpen Targets

0.46Moderate

genetic disorderOpen Targets

0.45Moderate

obesityOpen Targets

0.43Moderate

myopiaOpen Targets

0.42Moderate

smoking initiationOpen Targets

0.41Moderate

bipolar disorderOpen Targets

0.41Moderate

attention deficit hyperactivity disorderOpen Targets

0.40Weak

schizophreniaOpen Targets

0.39Weak

cervical carcinomaOpen Targets

0.38Weak

refractive errorOpen Targets

0.38Weak

autism spectrum disorderOpen Targets

0.38Weak

cataractOpen Targets

0.38Weak

atrial fibrillationOpen Targets

0.38Weak

ovarian dysfunctionOpen Targets

0.38Weak

Sjogren syndromeOpen Targets

0.37Weak

placental retentionOpen Targets

0.37Weak

diabetes mellitusOpen Targets

0.36Weak

ovarian neoplasmOpen Targets

0.35Weak

Pathogenic Variants16

NM_018723.4(RBFOX1):c.548G>T (p.Gly183Val)Likely pathogenic

Inborn genetic diseases

★☆☆☆2024→ Residue 183

NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)Likely pathogenic

Intellectual disability

★☆☆☆2023→ Residue 397

NC_000016.10:g.(?_7029167)_(7099643_?)delLikely pathogenic

Schizophrenia

★☆☆☆2018

NC_000016.10:g.(?_6355716)_(6937802_?)delLikely pathogenic

Schizophrenia

★☆☆☆2018

NC_000016.10:g.(?_6360351)_(6582207_?)delLikely pathogenic

Schizophrenia

★☆☆☆2018

NC_000016.10:g.(?_6622570)_(6720408_?)delLikely pathogenic

Schizophrenia

★☆☆☆2018

NC_000016.10:g.(?_6759006)_(6789572_?)delLikely pathogenic

Autism

★☆☆☆2018

NC_000016.10:g.(?_6773909)_(6978067_?)delLikely pathogenic

Schizophrenia

★☆☆☆2018

NC_000016.10:g.(?_6316970)_(6317082_?)delLikely pathogenic

Undetermined early-onset epileptic encephalopathy

★☆☆☆2018

NC_000016.10:g.(?_6654578)_(6654675_?)delLikely pathogenic

Undetermined early-onset epileptic encephalopathy

★☆☆☆2018

NM_145893.3(RBFOX1):c.79C>G (p.Leu27Val)Likely pathogenic

not provided

★☆☆☆2016→ Residue 27

GRCh38/hg38 16p13.3(chr16:6735606-6996218)x1Pathogenic

See cases

★☆☆☆2011

GRCh38/hg38 16p13.3(chr16:6245158-6327302)x1Pathogenic

See cases

★☆☆☆2011

GRCh38/hg38 16p13.3(chr16:6305477-6373270)x1Pathogenic

See cases

★☆☆☆2011

GRCh38/hg38 16p13.3(chr16:6786909-6996218)x1Pathogenic

See cases

☆☆☆☆2010

NM_018723.4(RBFOX1):c.406del (p.Met136fs)Pathogenic

Colorectal cancer

☆☆☆☆→ Residue 136

Tissue Expression6 tissues

Brain

100%

Heart

37%

Ovary

Liver

Lung

Bone Marrow

Gene Interaction Network6 neighbors

Click a node to explore

Structure4 PDB hits

Preparing viewer…

PDB4ZKA · 1.80 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.31Highly Constrained

pLIⓘ

1.00Intolerant

Observed/Expected LoF0.17 [0.10–0.31]

Rankings3 dim

Where RBFOX1 stands among ~20K protein-coding genes

#3,972of 20,598
Most Researched119 · top quartile
#2,409of 5,509
Most Pathogenic Variants16
#1,228of 17,882
Most Constrained (LOEUF)0.31 · top 10%