FANCI

Chr 15AR

FA complementation group I

Also known as: KIAA1794

NCBI Gene: 55215ENSG00000140525UniProt: Q9NVI1

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Fanconi anemia, complementation group IMIM #609053
AR
Fanconi anemia, complementation group IMIM #609053
AR
UniProtFanconi anemia complementation group I
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
39
Pubs (1 yr)
-1.4
Missense Z
1.02
LOEUF
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.
📖
GeneReview available — FANCI
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

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

0 submitted variants in ClinVar

ClinVar

FANCI · protein map & ClinVar variants

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

Gene2Phenotype Curations

FANCI-related Fanconi anemia

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersCancer
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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
Aberrant R-loop-mediated immune evasion, cellular communication, and metabolic reprogramming affect cancer progression: a single-cell analysis.
Zhang S et al.·Mol Cancer
2024
USP1 inhibition: A journey from target discovery to clinical translation.
Torrado C et al.·Pharmacol Ther
2025Review
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort.
Chang L et al.·Clin Chim Acta
2023Cohort
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.·Int J Cancer
2019
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S et al.·J Cancer Res Clin Oncol
2018
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