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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FANCI
FA complementation group I
Chromosome 15 Β· 15q26.1
NCBI Gene: 55215Ensembl: ENSG00000140525.20HGNC: HGNC:25568UniProt: A0A6Q8PGF4
211PubMed Papers
21Diseases
0Drugs
283Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmnucleoplasmDNA polymerase bindingmembraneFanconi anemia complementation group IFanconi anemiaAlpers syndromemitochondrial DNA depletion syndrome 4a
✦AI Summary

FANCI is an essential component of the Fanconi anemia (FA) pathway responsible for DNA repair and genomic stability maintenance. Primary Function: FANCI functions as part of the FANCI-FANCD2 complex, a sliding DNA clamp that surveys double-stranded DNA and recognizes DNA damage sites by stalling at single-stranded-double-stranded DNA junctions characteristic of stalled replication forks 1. Mechanism: FANCI undergoes monoubiquitination by the FA core complex E3 ligase, facilitated by UBE2T, which transforms the FANCI-FANCD2 complex into its active form 23. This activated complex recruits DNA repair proteins for interstrand crosslink (ICL) repair and participates in replication fork protection 1. FANCI also links DNA damage response to R-loop regulation through interaction with the splicing factor SRSF1, promoting mRNA export and suppressing pathogenic R-loop accumulation 4. Disease Relevance: FANCI mutations cause Fanconi anemia, characterized by bone marrow failure and cancer susceptibility 2. FANCI deficiency leads to R-loop accumulation, genomic instability, and altered tumor progression pathways 5. Paradoxically, FA pathway activation can drive chr15 and extrachromosomal DNA formation, conferring acquired resistance to anticancer therapies 6. Clinical Significance: Understanding FANCI-mediated DNA repair mechanisms and R-loop regulation may inform therapeutic strategies targeting both FA-deficient cancers and FA-pathway-driven drug resistance.

Sources cited
1
FANCI-FANCD2 complex functions as a sliding clamp that stalls at single-stranded-double-stranded DNA junctions to recognize DNA damage
PMID: 39085614
2
FANCI undergoes monoubiquitination by FA core complex, mutations in FANCI cause bone marrow failure syndrome
PMID: 32725171
3
FANCI monoubiquitination mechanism by UBE2T and FA-core complex for ICL repair and genomic stability
PMID: 34137174
4
FANCI-FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export
PMID: 38165804
5
FANCI-mediated R-loop changes suppress tumor-cell proliferation and affect cancer progression
PMID: 38200551
6
FA pathway activation drives chromothripsis and extrachromosomal DNA formation conferring drug resistance
PMID: 39181133
Disease Associationsβ“˜21
Fanconi anemia complementation group IOpen Targets
0.83Strong
Fanconi anemiaOpen Targets
0.79Strong
Alpers syndromeOpen Targets
0.57Moderate
mitochondrial DNA depletion syndrome 4aOpen Targets
0.57Moderate
mitochondrial diseaseOpen Targets
0.53Moderate
Sensory ataxic neuropathy - dysarthria - ophthalmoparesisOpen Targets
0.52Moderate
sensory ataxic neuropathy, dysarthria, and ophthalmoparesisOpen Targets
0.52Moderate
Bone marrow hypocellularityOpen Targets
0.50Moderate
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1Open Targets
0.50Moderate
mitochondrial neurogastrointestinal encephalomyopathyOpen Targets
0.50Moderate
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1Open Targets
0.50Moderate
genetic disorderOpen Targets
0.47Moderate
acute myeloid leukemiaOpen Targets
0.46Moderate
Menkes diseaseOpen Targets
0.46Moderate
myelodysplastic syndromeOpen Targets
0.46Moderate
mitochondrial DNA depletion syndrome 1Open Targets
0.44Moderate
head and neck malignant neoplasiaOpen Targets
0.37Weak
Fanconi anemia complementation group AOpen Targets
0.35Weak
autism spectrum disorderOpen Targets
0.34Weak
schizophreniaOpen Targets
0.29Weak
Fanconi anemia complementation group IUniProt
Pathogenic Variants283
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)Pathogenic
Fanconi anemia|Fanconi anemia complementation group I|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1165
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)Pathogenic
not provided|Fanconi anemia|Fanconi anemia complementation group I
β˜…β˜…β˜†β˜†2026β†’ Residue 533
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)Pathogenic
Fanconi anemia|Fanconi anemia complementation group I|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 487
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)Pathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 1208
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)Pathogenic
Fanconi anemia|Fanconi anemia complementation group I
β˜…β˜…β˜†β˜†2026β†’ Residue 879
NM_001113378.2(FANCI):c.85-1G>TLikely pathogenic
Fanconi anemia|Fanconi anemia complementation group I|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2025
NM_001113378.2(FANCI):c.158-2A>GPathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025
NM_001113378.2(FANCI):c.1512+1G>ALikely pathogenic
Fanconi anemia
β˜…β˜…β˜†β˜†2025
NM_001113378.2(FANCI):c.2804-2A>GLikely pathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)Pathogenic
Fanconi anemia complementation group I|Fanconi anemia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 837
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)Pathogenic
Fanconi anemia|Fanconi anemia complementation group I
β˜…β˜…β˜†β˜†2025β†’ Residue 296
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)Pathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 1014
NM_001113378.2(FANCI):c.1891-2A>GLikely pathogenic
Fanconi anemia|Fanconi anemia complementation group I
β˜…β˜…β˜†β˜†2025
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)Pathogenic
Fanconi anemia|Fanconi anemia complementation group I
β˜…β˜…β˜†β˜†2025β†’ Residue 781
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)Pathogenic
not provided|Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 1268
NM_001113378.2(FANCI):c.3007-1G>CLikely pathogenic
Fanconi anemia complementation group I|Fanconi anemia|not provided
β˜…β˜…β˜†β˜†2025
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)Pathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 808
NM_001113378.2(FANCI):c.834del (p.Ile279fs)Pathogenic
Fanconi anemia|Fanconi anemia complementation group I
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)Pathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 986
NM_001113378.2(FANCI):c.490del (p.Leu164fs)Pathogenic
Fanconi anemia complementation group I|Fanconi anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 164
View on ClinVar β†—
Related Genes
HES1Protein interaction100%RAD51CProtein interaction100%FAAP20Protein interaction100%RAD54LProtein interaction100%MUS81Protein interaction100%RAD51Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
33%
Lung
9%
Ovary
9%
Liver
4%
Heart
4%
Gene Interaction Network
Click a node to explore
FANCIHES1RAD51CFAAP20RAD54LMUS81RAD51
PROTEIN STRUCTURE
Preparing viewer…
PDB8A9J Β· 2.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.72–0.96]
RankingsWhere FANCI stands among ~20K protein-coding genes
  • #1,976of 20,598
    Most Researched211 Β· top 10%
  • #218of 5,498
    Most Pathogenic Variants283 Β· top 5%
  • #9,026of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedFANCI
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A cGAS-mediated mechanism in naked mole-rats potentiates DNA repair and delays aging.
PMID: 41066557
Science Β· 2025
1.00
2
RNA damage compartmentalization by DHX9 stress granules.
PMID: 38503283
Cell Β· 2024
0.90
3
Aberrant R-loop-mediated immune evasion, cellular communication, and metabolic reprogramming affect cancer progression: a single-cell analysis.
PMID: 38200551
Mol Cancer Β· 2024
0.80
4
The Fanconi anemia pathway induces chromothripsis and ecDNA-driven cancer drug resistance.
PMID: 39181133
Cell Β· 2024
0.70
5
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
PMID: 30303537
Int J Cancer Β· 2019
0.68