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FANCF

Chr 11p14.3

FA complementation group F

Aliases:
FAF
MANE:
ENST00000327470.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult solid tumours cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood solid tumours

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood solid tumours cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Confirmed Fanconi anaemia or Bloom syndrome

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Fanconi anemia

    0.81
  • Fanconi anemia complementation group F

    0.79
  • Bone marrow hypocellularity

    0.50
  • acute myeloid leukemia

    0.47
  • leukemia

    0.46
  • myelodysplastic syndrome

    0.46
  • prostate carcinoma

    0.37
  • head and neck cancer

    0.37
  • superficial spreading melanoma

    0.37
  • breast carcinoma

    0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Fanconi anemia group F protein

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.