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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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FLI1
Fli-1 proto-oncogene, ETS transcription factor
Chromosome 11 Β· 11q24.3
NCBI Gene: 2313Ensembl: ENSG00000151702.19HGNC: HGNC:3749UniProt: Q01543
221PubMed Papers
22Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingnuclear bodynucleoplasmRare hemorrhagic disorder due to a constitutional platelet anomalyEwing sarcomaThrombocytopeniaosteosarcoma
✦AI Summary

FLI1 is a sequence-specific ETS transcription factor that recognizes the DNA sequence 5'-C[CA]GGAAGT-3' and functions as a positive regulator of transcription 123. In normal physiology, FLI1 serves as a negative regulator of collagen-1 synthesis in vascular tissue 4 and is expressed in endothelial cells across multiple organ systems 5. FLI1 is clinically significant primarily through its involvement in Ewing sarcoma, where it becomes fused with EWSR1 in approximately 85% of cases, creating an oncogenic EWSR1-FLI1 chimeric transcription factor 6. This fusion protein exhibits neomorphic effects, rewiring the transcriptome and epigenome by inducing de novo enhancers at GGAA microsatellites 67. The EWSR1-FLI1 fusion activates pericentromeric heterochromatin, leading to pathogenic RNA expression secreted in extracellular vesicles, which promotes DNA damage and proinflammatory responses 7. Additionally, EWSR1 interacts with CENP-A to maintain centromere identity, a function relevant to genomic stability 8. Beyond Ewing sarcoma, FLI1 also functions in other cancers; in nasopharyngeal carcinoma, FLI1 orchestrates kynurenine metabolism through the CBP/STAT1-IDO1 axis, promoting immunosuppression and CD8+ T cell exhaustion 9. These diverse roles establish FLI1 as both a critical developmental regulator and a potent oncogenic driver.

Sources cited
1
FLI1 functions as a sequence-specific transcriptional activator
PMID: 24100448
2
FLI1 functions as a sequence-specific transcriptional activator
PMID: 26316623
3
FLI1 functions as a sequence-specific transcriptional activator
PMID: 28255014
4
FLI1 is a negative regulator of collagen-1 synthesis in vascular tissue; silencing FLI1 increases collagen production
PMID: 35569064
5
FLI1 is expressed in endothelial cells across normal human tissues
PMID: 16234507
6
EWSR1-FLI1 fusion occurs in 85% of Ewing sarcomas and acts as a tumor-specific chimeric transcription factor with neomorphic effects that rewires the transcriptome and induces de novo enhancers at GGAA microsatellites
PMID: 29977059
7
EWS:FLI1 binds GGAA repeats and activates pericentromeric heterochromatin, generating pathogenic RNAs in extracellular vesicles that promote DNA damage and proinflammatory responses
PMID: 38530366
8
EWSR1 and EWSR1-FLI1 interact with CENP-A to maintain centromere identity through binding to centromeric RNA
PMID: 37243594
9
FLI1 orchestrates CBP and STAT1 expression to activate IDO1 transcription, leading to kynurenine production and CD8+ T cell exhaustion in nasopharyngeal carcinoma
PMID: 38816360
Disease Associationsβ“˜22
Rare hemorrhagic disorder due to a constitutional platelet anomalyOpen Targets
0.76Strong
Ewing sarcomaOpen Targets
0.42Moderate
ThrombocytopeniaOpen Targets
0.41Moderate
osteosarcomaOpen Targets
0.39Weak
Ewing sarcoma/peripheral primitive neuroectodermal tumorOpen Targets
0.37Weak
hematopoietic and lymphoid cell neoplasmOpen Targets
0.37Weak
desmoplastic small round cell tumorOpen Targets
0.37Weak
alveolar rhabdomyosarcomaOpen Targets
0.37Weak
leiomyosarcomaOpen Targets
0.37Weak
Olfactory NeuroblastomaOpen Targets
0.37Weak
rhabdomyosarcomaOpen Targets
0.37Weak
synovial sarcomaOpen Targets
0.37Weak
malignant peripheral nerve sheath tumorOpen Targets
0.37Weak
Askin TumorOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal TumorOpen Targets
0.37Weak
isolated delta-storage pool diseaseOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
malignant soft tissue neoplasmOpen Targets
0.37Weak
Bleeding disorder, platelet-type, 21UniProt
Ewing sarcomaUniProt
Pathogenic Variants9
NM_002017.5(FLI1):c.969_973del (p.Arg324fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 324
NM_002017.5(FLI1):c.338dup (p.Pro114fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 114
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)Likely pathogenic
Bleeding disorder, platelet-type, 21
β˜…β˜†β˜†β˜†2017β†’ Residue 337
NM_002017.5(FLI1):c.970C>T (p.Arg324Trp)Pathogenic
Bleeding disorder platelet type macrothrombocytopenia|Bleeding disorder, platelet-type, 21
β˜…β˜†β˜†β˜†2015β†’ Residue 324
NM_002017.5(FLI1):c.844C>T (p.Gln282Ter)Pathogenic
Bleeding disorder, platelet-type, 21
β˜…β˜†β˜†β˜†β†’ Residue 282
NM_002017.5(FLI1):c.992_995del (p.Asn331fs)Pathogenic
Bleeding disorder, platelet-type, 21|Thrombocytopenia|Abnormal bleeding;Thrombocytopenia
β˜†β˜†β˜†β˜†2020β†’ Residue 331
NM_002017.5(FLI1):c.1033A>G (p.Lys345Glu)Pathogenic
Bleeding disorder, platelet-type, 21
β˜†β˜†β˜†β˜†2017β†’ Residue 345
NM_002017.5(FLI1):c.1019G>C (p.Arg340Pro)Likely pathogenic
Bleeding disorder, platelet-type, 21
β˜†β˜†β˜†β˜†β†’ Residue 340
NM_002017.5(FLI1):c.946G>T (p.Glu316Ter)Likely pathogenic
Bleeding disorder, platelet-type, 21
β˜†β˜†β˜†β˜†β†’ Residue 316
View on ClinVar β†—
Related Genes
GATA1Protein interaction100%GATA2Protein interaction99%PPT1Protein interaction96%FBXW7Protein interaction95%TAL1Protein interaction94%TPP1Protein interaction94%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
69%
Heart
53%
Brain
17%
Liver
13%
Ovary
11%
Gene Interaction Network
Click a node to explore
FLI1GATA1GATA2PPT1FBXW7TAL1TPP1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CP6 Β· 1.66 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.37Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.22 [0.13–0.37]
RankingsWhere FLI1 stands among ~20K protein-coding genes
  • #1,855of 20,598
    Most Researched221 Β· top 10%
  • #2,918of 5,498
    Most Pathogenic Variants9
  • #1,679of 17,882
    Most Constrained (LOEUF)0.37 Β· top 10%
Genes detectedFLI1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Ewing sarcoma.
PMID: 29977059
Nat Rev Dis Primers Β· 2018
1.00
2
FLI1 promotes IFN-Ξ³-induced kynurenine production to impair anti-tumor immunity.
PMID: 38816360
Nat Commun Β· 2024
0.90
3
The O-glycosyltransferase C1GALT1 promotes EWSR1::FLI1 expression and is a therapeutic target for Ewing sarcoma.
PMID: 39894896
Nat Commun Β· 2025
0.80
4
Complex/cryptic
PMID: 37372318
Genes (Basel) Β· 2023
0.70
5
Pseudomyogenic Hemangioendothelioma.
PMID: 31130564
J Nippon Med Sch Β· 2019
0.64