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FLI1

Chr 11q24.3

Fli-1 proto-oncogene, ETS transcription factor

Aliases:
SIC-1, EWSR2, FLI-1
MANE:
ENST00000527786.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Rare hemorrhagic disorder due to a constitutional platelet anomaly

    0.76
  • Ewing sarcoma

    0.42
  • Thrombocytopenia

    0.41
  • osteosarcoma

    0.39
  • Ewing sarcoma/peripheral primitive neuroectodermal tumor

    0.38
  • rhabdomyosarcoma

    0.37
  • desmoplastic small round cell tumor

    0.37
  • alveolar rhabdomyosarcoma

    0.37
  • synovial sarcoma

    0.37
  • leiomyosarcoma

    0.37

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

Protein function (UniProt)

Friend leukemia integration 1 transcription factor

Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'

Curated MONDO disease pages that list FLI1 among their top associated genes.

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.