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    FLI1 Fli-1 proto-oncogene, ETS transcription factor [ Homo sapiens (human) ]

    Gene ID: 2313, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FLI1provided by HGNC
    Official Full Name
    Fli-1 proto-oncogene, ETS transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:3749
    See related
    Ensembl:ENSG00000151702 MIM:193067; AllianceGenome:HGNC:3749
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EWSR2; FLI-1; SIC-1; BDPLT21
    Summary
    This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
    Annotation information
    Note: FLI1 (Gene ID: 2313) and FLII (Gene ID: 2314) share the FLI1 symbol/alias in common. FLI1 is a widely used alternative name for FLII, actin remodeling protein (FLII), which can be confused with the official symbol for FLI1 (Fli-1 proto-oncogene, ETS transcription factor, GeneID 2313). [01 Jun 2018]
    Expression
    Broad expression in spleen (RPKM 33.9), lymph node (RPKM 17.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FLI1 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128685351..128813267)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128719763..128845984)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128556430..128683162)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ETS proto-oncogene 1, transcription factor Neighboring gene uncharacterized LOC105369565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128446088-128446588 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:128452292-128453010 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:128453011-128453727 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:128457406-128457612 Neighboring gene uncharacterized LOC105369568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5728 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128480315-128481964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128485091-128485590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128485724-128486224 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128491606-128492805 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128494058-128494944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128523817-128524317 Neighboring gene uncharacterized LOC101929538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4058 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128563455-128564187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4062 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128570339-128571538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4063 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128585502-128586027 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:128587835-128588354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128596161-128596660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5738 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128603944-128604489 Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128627636-128628136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128628137-128628637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128646623-128647228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654003-128654550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654551-128655097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128689257-128689763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5743 Neighboring gene uncharacterized LOC107984409 Neighboring gene Sharpr-MPRA regulatory region 11395 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128740730-128741492 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128741942-128742537 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128771525-128772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4065 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The impact of transcription factor Fli1 deficiency on the regulation of angiogenesis. Toyama T, et al. Exp Dermatol, 2017 Oct. PMID 28370536
    2. Abnormal expression of FLI1 protein is an adverse prognostic factor in acute myeloid leukemia. Kornblau SM, et al. Blood, 2011 Nov 17. PMID 21917756, Free PMC Article
    3. FLI1 is a novel ETS transcription factor involved in gene fusions in prostate cancer. Paulo P, et al. Genes Chromosomes Cancer, 2012 Mar. PMID 22081504
    4. SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. Trkova M, et al. Am J Med Genet A, 2012 Oct. PMID 22887642
    5. Study of EWS/FLI-1 rearrangement in 18 cases of CK20+/CM2B4+ Merkel cell carcinoma using FISH and correlation to the differential diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor. Fernandez-Flores A, et al. Appl Immunohistochem Mol Morphol, 2013 Oct. PMID 23165331

    See all (220) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FLI1 promotes IFN-gamma-induced kynurenine production to impair anti-tumor immunity.
      Title: FLI1 promotes IFN-γ-induced kynurenine production to impair anti-tumor immunity.
    2. Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
      Title: Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
    3. FLI-1-driven regulation of endothelial cells in human diseases.
      Title: FLI-1-driven regulation of endothelial cells in human diseases.
    4. FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.
      Title: FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.
    5. An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
      Title: An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
    6. Friend leukemia integration 1 overexpression decreases endometrial receptivity and induces embryo implantation failure by promoting PART1 transcription in the endometrial epithelial cells.
      Title: Friend leukemia integration 1 overexpression decreases endometrial receptivity and induces embryo implantation failure by promoting PART1 transcription in the endometrial epithelial cells.
    7. FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression.
      Title: FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression.
    8. Integrated analysis reveals FLI1 regulates the tumor immune microenvironment via its cell-type-specific expression and transcriptional regulation of distinct target genes of immune cells in breast cancer.
      Title: Integrated analysis reveals FLI1 regulates the tumor immune microenvironment via its cell-type-specific expression and transcriptional regulation of distinct target genes of immune cells in breast cancer.
    9. FLI-1 is expressed in a wide variety of hematolymphoid neoplasms: a special concern in the differential diagnosis.
      Title: FLI-1 is expressed in a wide variety of hematolymphoid neoplasms: a special concern in the differential diagnosis.
    10. Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis.
      Title: Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis.
    Submit: New GeneRIF Correction See all GeneRIFs (165)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bleeding disorder, platelet-type, 21
    MedGen: C4479515 OMIM: 617443 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood circulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hemostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in megakaryocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Friend leukemia integration 1 transcription factor
    Names
    Ewing sarcoma breakpoint region 2
    Friend leukemia virus integration 1
    transcription factor ERGB

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032912.1 RefSeqGene

      Range
      5001..131733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_646

    mRNA and Protein(s)

    1. NM_001167681.3 → NP_001161153.1  Friend leukemia integration 1 transcription factor isoform 2

      See identical proteins and their annotated locations for NP_001161153.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI354789, AK300153, AP001122, DC381599
      Consensus CDS
      CCDS53725.1
      UniProtKB/TrEMBL
      A0A8V8TM04
      Related
      ENSP00000432950.1, ENST00000534087.3
      Conserved Domains (2) summary
      cd08541
      Location:81 → 171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247 → 330
      ETS; erythroblast transformation specific domain

    2. NM_001271010.2 → NP_001257939.1  Friend leukemia integration 1 transcription factor isoform 3

      See identical proteins and their annotated locations for NP_001257939.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI354789, AK313370, AP001122, DC381599, M93255
      Consensus CDS
      CCDS59231.1
      UniProtKB/TrEMBL
      A0A8V8TM04
      Related
      ENSP00000281428.8, ENST00000281428.12
      Conserved Domains (2) summary
      cd08541
      Location:48 → 138
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:214 → 297
      ETS; erythroblast transformation specific domain

    3. NM_001271012.2 → NP_001257941.1  Friend leukemia integration 1 transcription factor isoform 4

      See identical proteins and their annotated locations for NP_001257941.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and two alternate internal exons, and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI354789, AK294279, AP001122
      Consensus CDS
      CCDS59230.1
      UniProtKB/Swiss-Prot
      Q01543
      Related
      ENSP00000339627.7, ENST00000344954.10
      Conserved Domains (1) summary
      smart00413
      Location:87 → 170
      ETS; erythroblast transformation specific domain

    4. NM_002017.5 → NP_002008.2  Friend leukemia integration 1 transcription factor isoform 1

      See identical proteins and their annotated locations for NP_002008.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI354789, AK313370, AP001122
      Consensus CDS
      CCDS44768.1
      UniProtKB/Swiss-Prot
      B2R8H2, B4DFV4, B4DTC6, G3V183, Q01543, Q14319, Q92480, Q9UE07
      UniProtKB/TrEMBL
      A0A8V8TM04
      Related
      ENSP00000433488.2, ENST00000527786.7
      Conserved Domains (2) summary
      cd08541
      Location:114 → 204
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:280 → 363
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      128685351..128813267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017405.2 → XP_016872894.1  Friend leukemia integration 1 transcription factor isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM04
      Conserved Domains (2) summary
      cd08541
      Location:81 → 171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247 → 330
      ETS; erythroblast transformation specific domain

    2. XM_017017406.2 → XP_016872895.1  Friend leukemia integration 1 transcription factor isoform X1

      UniProtKB/TrEMBL
      A0A8V8TM04
      Conserved Domains (2) summary
      cd08541
      Location:81 → 171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247 → 330
      ETS; erythroblast transformation specific domain

    3. XM_011542701.3 → XP_011541003.1  Friend leukemia integration 1 transcription factor isoform X1

      See identical proteins and their annotated locations for XP_011541003.1

      UniProtKB/TrEMBL
      A0A8V8TM04
      Conserved Domains (2) summary
      cd08541
      Location:81 → 171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247 → 330
      ETS; erythroblast transformation specific domain

    4. XM_011542702.2 → XP_011541004.1  Friend leukemia integration 1 transcription factor isoform X2

      UniProtKB/TrEMBL
      A0A8V8TM04
      Conserved Domains (2) summary
      cd08541
      Location:114 → 204
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:238 → 321
      ETS; erythroblast transformation specific domain

    5. XM_047426630.1 → XP_047282586.1  Friend leukemia integration 1 transcription factor isoform X1

      Related
      ENSP00000513017.1, ENST00000696982.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      128719763..128845984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01543.1 GenPept UniProtKB/Swiss-Prot:Q01543

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