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0 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHURC1-FNTB
CHURC1-FNTB readthrough
Chromosome 14 · 14q23.3
NCBI Gene: 100529261Ensembl: ENSG00000125954.13HGNC: HGNC:3785UniProt: B4DL54
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
neurodegenerative diseaseThrombocytopeniamacrothrombocytopenia, isolated, 2, autosomal dominantautosomal dominant macrothrombocytopenia
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

CHURC1-FNTB readthrough

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
ThrombocytopeniaOpen Targets
0.07Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.07Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.06Suggestive
thrombocytopenia 4Open Targets
0.06Suggestive
essential thrombocythemiaOpen Targets
0.05Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.05Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.05Suggestive
platelet-type bleeding disorder 9Open Targets
0.05Suggestive
congenital amegakaryocytic thrombocytopenia 1Open Targets
0.05Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.05Suggestive
thrombocythemia 2Open Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.04Suggestive
platelet-type bleeding disorder 15Open Targets
0.04Suggestive
familial isolated congenital aspleniaOpen Targets
0.04Suggestive
X-linked sideroblastic anemia 1Open Targets
0.04Suggestive
monosomy 7 myelodysplasia and leukemia syndrome 1Open Targets
0.04Suggestive
platelet-type bleeding disorder 10Open Targets
0.04Suggestive
thrombocytopenia 9Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FNTAProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Lung
5%
Ovary
5%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
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CHURC1-FNTBFNTA
PROTEIN STRUCTURE
Preparing viewer…
PDB2H6F · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.36–0.67]
RankingsWhere CHURC1-FNTB stands among ~20K protein-coding genes
  • #16,711of 20,598
    Most Researched11
  • #4,886of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedCHURC1-FNTB
Sources retrieved0 papers
Response time—