FANCF

Chr 11AR

FA complementation group F

Also known as: FAF

NCBI Gene: 2188ENSG00000183161UniProt: Q9NPI8OMIM: 613897

This protein functions in DNA repair, specifically in interstrand DNA cross-link repair and maintenance of chromosome stability as part of the Fanconi anemia nuclear protein complex. Mutations cause Fanconi anemia complementation group F, characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The condition follows autosomal recessive inheritance.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.522 OMIM phenotypes
Clinical Summary— FANCF
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Gene-Disease Validity (ClinGen)
Fanconi anemia complementation group F · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.52LOEUF
pLI 0.459
Z-score 1.16
OE 0.00 (0.00–1.52)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.83Z-score
OE missense 1.38 (1.24–1.53)
257 obs / 186.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–1.52)
0≤0.351.4
Missense OE1.38 (1.24–1.53)
0≤0.61.4
Synonymous OE1.43
0≤1.21.6
LoF obs/exp: 0 / 1.6Missense obs/exp: 257 / 186.8Syn Z: -3.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FANCF · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The FANCC-FANCE-FANCF complex is evolutionarily conserved and regulates meiotic recombination.
Singh DK et al.·Nucleic Acids Res
2023Open Access
Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
Behera CK et al.·Mol Biol Rep
2023
[Corrigendum) RNA interference‑mediated FANCF silencing sensitizes OVCAR3 ovarian cancer cells to adriamycin through increased adriamycin‑induced apoptosis dependent on JNK activation.
He M et al.·Oncol Rep
2022Open Access
FANCF hypomethylation is associated with colorectal cancer in Han Chinese.
Yu H et al.·Turk J Gastroenterol
2020
Intrinsic adriamycin resistance in p53-mutated breast cancer is related to the miR-30c/FANCF/REV1-mediated DNA damage response.
Lin S et al.·Cell Death Dis
2019Open 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