FANCI

Chr 15

FA complementation group I

Also known as: KIAA1794

NCBI Gene: 55215ENSG00000140525UniProt: Q9NVI1

FANCI encodes a protein essential for DNA repair, specifically for repairing DNA double-strand breaks and interstrand cross-links by promoting FANCD2 monoubiquitination and participating in recruitment to DNA repair sites. Mutations cause Fanconi anemia complementation group I, an autosomal recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The gene is extremely intolerant to loss-of-function variants (pLI near 0), indicating strong evolutionary constraint.

GeneReviewsResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismLOEUF 1.02
Clinical Summary— FANCI
🧬
Gene-Disease Validity (ClinGen)
Fanconi anemia complementation group I · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
51 unique Pathogenic / Likely Pathogenic· 197 VUS of 400 total submissions
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — FANCI
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.02LOEUF
pLI 0.000
Z-score 1.37
OE 0.83 (0.68–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.35Z-score
OE missense 1.15 (1.08–1.22)
747 obs / 650.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.83 (0.68–1.02)
0≤0.351.4
Missense OE1.15 (1.08–1.22)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 63 / 75.9Missense obs/exp: 747 / 650.1Syn Z: -1.78

ClinVar Variant Classifications

400 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic28
VUS197
Likely Benign117
Benign3
Conflicting1
23
Pathogenic
28
Likely Pathogenic
197
VUS
117
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
21
0
2
0
23
Likely Pathogenic
27
0
1
0
28
VUS
4
170
21
2
197
Likely Benign
0
2
66
49
117
Benign
0
0
3
0
3
Conflicting
—1
Total521729351369

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FANCI · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Possible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance.
Berdyński M et al.·Front Genet
2026Open Access
The FANCD2-FANCI heterodimer coordinates chromatin openness and cell cycle progression throughout DNA double-strand break repair.
Joyce CM et al.·Cell Rep
2026Open Access
Betulinic Acid Suppresses UBE2T Expression via MAPK/ERK Inhibition to Block FANCI and FANCD2 Monoubiquitination in Glioblastoma.
Bao Y et al.·J Cell Mol Med
2026Open Access
Arabidopsis thaliana FANCONI ANAEMIA I (FANCI) has roles in the repair of interstrand crosslinks and CRISPR-Cas9 induced DNA double strand breaks.
Balobaid A et al.·Plant J
2025Open Access
The long noncoding RNA lnc-FANCI-2 intrinsically restricts RAS signaling in human papillomavirus type 16-infected cervical cancer cells.
Liu H et al.·Elife
2025Open Access
Top 5 resultsSearch Europe PMC ↗

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