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Aliases for FLI1 Gene

Aliases for FLI1 Gene

  • Fli-1 Proto-Oncogene, ETS Transcription Factor 2 3 5
  • Friend Leukemia Virus Integration 1 2 3
  • Transcription Factor ERGB 3 4
  • Friend Leukemia Integration 1 Transcription Factor 3
  • Ewing Sarcoma Breakpoint Region 2 3
  • Proto-Oncogene Fli-1 4
  • BDPLT21 3
  • EWSR2 3
  • SIC-1 3

External Ids for FLI1 Gene

Previous GeneCards Identifiers for FLI1 Gene

  • GC11P130564
  • GC11P130076
  • GC11P128596
  • GC11P128101
  • GC11P128069
  • GC11P124510

Summaries for FLI1 Gene

Entrez Gene Summary for FLI1 Gene

  • 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]

CIViC summary for FLI1 Gene

GeneCards Summary for FLI1 Gene

FLI1 (Fli-1 Proto-Oncogene, ETS Transcription Factor) is a Protein Coding gene. Diseases associated with FLI1 include Bleeding Disorder, Platelet-Type, 21 and Isolated Delta-Storage Pool Disease. Among its related pathways are NF-kappaB Signaling and Hematopoietic Stem Cell Differentiation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is ERG.

UniProtKB/Swiss-Prot for FLI1 Gene

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

Gene Wiki entry for FLI1 Gene

Additional gene information for FLI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLI1 Gene

Genomics for FLI1 Gene

GeneHancer (GH) Regulatory Elements for FLI1 Gene

Promoters and enhancers for FLI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J128692 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.4 +8.9 8934 6.6 SIN3A ZNF2 YY1 GLIS2 ZNF143 ATF7 RUNX3 JUNB MAFF ZNF585B SENCR FLI1 LOC101929538
GH11J128688 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 650.7 0.0 -27 0.2 SUZ12 BACH1 CTBP2 EZH2 LOC101929538 FLI1 ENSG00000245008 GC11P128667
GH11J128684 Enhancer 0.9 Ensembl ENCODE dbSUPER 650.7 -1.3 -1334 0.8 SUZ12 ZNF143 CTBP2 USF2 EZH2 ENSG00000245008 LOC101929538 FLI1 LOC101929517 GC11P128667
GH11J128686 Enhancer 0.9 Ensembl ENCODE dbSUPER 650.7 +0.8 787 1.1 MXI1 SUZ12 MAX EZH2 LOC101929538 FLI1 ENSG00000245008 SENCR
GH11J128687 Enhancer 0.7 ENCODE dbSUPER 650.7 -0.4 -404 0.2 SUZ12 BACH1 CTBP2 EZH2 LOC101929538 FLI1 ENSG00000245008 GC11P128667
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FLI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FLI1 gene promoter:

Genomic Locations for FLI1 Gene

Genomic Locations for FLI1 Gene
chr11:128,686,535-128,813,267
(GRCh38/hg38)
Size:
126,733 bases
Orientation:
Plus strand
chr11:128,556,430-128,683,162
(GRCh37/hg19)

Genomic View for FLI1 Gene

Genes around FLI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLI1 Gene

Proteins for FLI1 Gene

  • Protein details for FLI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01543-FLI1_HUMAN
    Recommended name:
    Friend leukemia integration 1 transcription factor
    Protein Accession:
    Q01543
    Secondary Accessions:
    • B2R8H2
    • B4DFV4
    • B4DTC6
    • G3V183
    • Q14319
    • Q92480
    • Q9UE07

    Protein attributes for FLI1 Gene

    Size:
    452 amino acids
    Molecular mass:
    50982 Da
    Quaternary structure:
    • Can form homodimers or heterodimers with ETV6/TEL1.
    Miscellaneous:
    • Located on a fragment of chromosome 11 flanked on the centromeric side by the acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation breakpoint and on the telomeric side by the Ewing- and neuroepithelioma-associated t(11;22) (q24;q12) breakpoint.

    Three dimensional structures from OCA and Proteopedia for FLI1 Gene

    Alternative splice isoforms for FLI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLI1 Gene

Post-translational modifications for FLI1 Gene

  • Ubiquitination at Lys172
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FLI1 Gene

Domains & Families for FLI1 Gene

Gene Families for FLI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

Q01543

UniProtKB/Swiss-Prot:

FLI1_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with FLI1: view

Function for FLI1 Gene

Molecular function for FLI1 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5-C[CA]GGAAGT-3.
GENATLAS Biochemistry:
Friend and Cas-Br-E murine leukemia virus integration site

Phenotypes From GWAS Catalog for FLI1 Gene

Gene Ontology (GO) - Molecular Function for FLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA,NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding TAS 1522903
genes like me logo Genes that share ontologies with FLI1: view
genes like me logo Genes that share phenotypes with FLI1: view

Human Phenotype Ontology for FLI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLI1 Gene

MGI Knock Outs for FLI1:

Animal Model Products

CRISPR Products

miRNA for FLI1 Gene

miRTarBase miRNAs that target FLI1
Targeted motifs for FLI1 Gene
HOMER Transcription Factor Regulatory Elements motif FLI1
  • Consensus sequence: NRYTTCCGGH Submotif: canonical Cell Type: CD8 GEO ID: GSE20898

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLI1

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for FLI1 Gene

Localization for FLI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLI1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLI1 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 28255014
GO:0005829 cytosol IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with FLI1: view

Pathways & Interactions for FLI1 Gene

genes like me logo Genes that share pathways with FLI1: view

Pathways by source for FLI1 Gene

1 BioSystems pathway for FLI1 Gene
1 KEGG pathway for FLI1 Gene
1 Cell Signaling Technology pathway for FLI1 Gene

SIGNOR curated interactions for FLI1 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007599 hemostasis TAS 10891501
genes like me logo Genes that share ontologies with FLI1: view

Drugs & Compounds for FLI1 Gene

(1) Drugs for FLI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FLI1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FLI1: view

Transcripts for FLI1 Gene

Unigene Clusters for FLI1 Gene

Friend leukemia virus integration 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLI1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLI1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5: -

Relevant External Links for FLI1 Gene

GeneLoc Exon Structure for
FLI1
ECgene alternative splicing isoforms for
FLI1

Expression for FLI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FLI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FLI1 Gene

This gene is overexpressed in Whole Blood (x8.1) and Spleen (x5.5).

Protein differential expression in normal tissues from HIPED for FLI1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.1), CD8 Tcells (15.5), CD4 Tcells (11.0), and Blymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLI1 Gene



Protein tissue co-expression partners for FLI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLI1 Gene:

FLI1

SOURCE GeneReport for Unigene cluster for FLI1 Gene:

Hs.504281

Evidence on tissue expression from TISSUES for FLI1 Gene

  • Nervous system(4.5)
  • Blood(4.3)
  • Bone marrow(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FLI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FLI1: view

No data available for mRNA Expression by UniProt/SwissProt for FLI1 Gene

Orthologs for FLI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FLI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLI1 34 33
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FLI1 34 33
  • 92.54 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLI1 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FLI1 34 33
  • 91.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fli1 16 34 33
  • 90.93 (n)
rat
(Rattus norvegicus)
Mammalia Fli1 33
  • 90.86 (n)
chicken
(Gallus gallus)
Aves FLI1 34 33
  • 82.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLI1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fli1 33
  • 73.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1184 33
zebrafish
(Danio rerio)
Actinopterygii fli1a 34 33
  • 75.87 (n)
OneToOne
fli1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3935 33
fruit fly
(Drosophila melanogaster)
Insecta Ets65A 35
  • 61 (a)
Ets21C 34 35
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C42D8.4 35
  • 79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
Species where no ortholog for FLI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLI1 Gene

ENSEMBL:
Gene Tree for FLI1 (if available)
TreeFam:
Gene Tree for FLI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FLI1: view image

Paralogs for FLI1 Gene

Paralogs for FLI1 Gene

(3) SIMAP similar genes for FLI1 Gene using alignment to 5 proteins:

  • FLI1_HUMAN
  • Q9UEE2_HUMAN
  • Q9UEE3_HUMAN
  • V9GY62_HUMAN
  • V9GZ02_HUMAN
genes like me logo Genes that share paralogs with FLI1: view

Variants for FLI1 Gene

Sequence variations from dbSNP and Humsavar for FLI1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1064797083 conflicting-interpretations-of-pathogenicity, Bleeding disorder, platelet-type, 21 128,810,638(+) C/T coding_sequence_variant, missense_variant
rs1064797084 pathogenic, Bleeding disorder, platelet-type, 21 128,810,657(+) A/G coding_sequence_variant, missense_variant
rs1064797085 pathogenic, Bleeding disorder, platelet-type, 21 128,810,620(+) AATTA/A coding_sequence_variant, frameshift
rs1064797086 pathogenic, Bleeding disorder, platelet-type, 21 128,810,639(+) G/A coding_sequence_variant, missense_variant
rs1064797087 pathogenic, Bleeding disorder, platelet-type, 21 128,810,662(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for FLI1 Gene

Variant ID Type Subtype PubMed ID
dgv250n67 CNV loss 20364138
esv2666423 CNV deletion 23128226
esv2745240 CNV deletion 23290073
esv275021 CNV gain+loss 21479260
esv28700 CNV gain 19812545
esv3254940 CNV deletion 24192839
esv3548511 CNV deletion 23714750
esv3579957 CNV loss 25503493
esv3628048 CNV gain 21293372
esv3628049 CNV loss 21293372
esv994512 CNV deletion 20482838
nsv1037438 CNV gain 25217958
nsv1070495 CNV deletion 25765185
nsv38628 CNV deletion 16902084
nsv468891 CNV loss 19166990
nsv526725 CNV loss 19592680
nsv543 CNV insertion 18451855
nsv545 CNV deletion 18451855
nsv556559 CNV loss 21841781
nsv556560 CNV loss 21841781
nsv556561 CNV loss 21841781
nsv556562 CNV loss 21841781
nsv819457 CNV gain 19587683
nsv820393 CNV deletion 20802225
nsv826128 CNV gain 20364138
nsv952759 CNV duplication 24416366

Variation tolerance for FLI1 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FLI1 Gene

Human Gene Mutation Database (HGMD)
FLI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLI1 Gene

Disorders for FLI1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for FLI1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 21
  • bdplt21
isolated delta-storage pool disease
  • isolated delta-spd
ewing sarcoma
  • es
extraskeletal ewing sarcoma
  • extraosseous ewing sarcoma
jacobsen syndrome
  • jbs
- elite association - COSMIC cancer census association via MalaCards
Search FLI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FLI1_HUMAN
  • Ewing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. {ECO:0000269 PubMed:1522903, ECO:0000269 PubMed:1765382}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving FLI1 is found in patients with Erwing sarcoma. Translocation t(11;22)(q24;q12) with EWSR1. {ECO:0000269 PubMed:1522903, ECO:0000269 PubMed:1765382}.
  • Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443]: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia. {ECO:0000269 PubMed:24100448, ECO:0000269 PubMed:26316623, ECO:0000269 PubMed:28255014}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FLI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FLI1: view

No data available for Genatlas for FLI1 Gene

Publications for FLI1 Gene

  1. Solution structure of the ets domain of Fli-1 when bound to DNA. (PMID: 7773776) Liang H … Fesik SW (Nature structural biology 1994) 3 4 22 58
  2. The human homolog of the mouse common viral integration region, FLI1, maps to 11q23-q24. (PMID: 1765382) Baud V … Bergeron D (Genomics 1991) 2 3 4 58
  3. Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. (PMID: 28255014) Saultier P … Alessi MC (Haematologica 2017) 3 4 58
  4. Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. (PMID: 26316623) Stevenson WS … Morel-Kopp MC (Blood 2015) 3 4 58
  5. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. (PMID: 24100448) Stockley J … UK Genotyping and Phenotyping of Platelets Study Group (Blood 2013) 3 4 58

Products for FLI1 Gene

Sources for FLI1 Gene

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