FLI1 Gene (Protein Coding)

Fli-1 Proto-Oncogene, ETS Transcription Factor

GC11P128686
GIFtS:
50
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 ident... See more...

Aliases for FLI1 Gene

Aliases for FLI1 Gene

  • Fli-1 Proto-Oncogene, ETS Transcription Factor 2 3 5
  • Friend Leukemia Integration 1 Transcription Factor 3 4
  • Friend Leukemia Virus Integration 1 2 3
  • Transcription Factor ERGB 3 4
  • EWSR2 2 3
  • SIC-1 2 3
  • Ewing Sarcoma Breakpoint Region 2 3
  • Proto-Oncogene Fli-1 4
  • BDPLT21 3
  • FLI1 5

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 Hematopoietic Stem Cell Differentiation and Transcriptional misregulation in cancer. 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 Summary 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 , Rfam classification and piRNA Summary for FLI1 Gene

Genomics for FLI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +9.8 9834 7.4 ZIC2 SIN3A GABPA CTCF ZNF639 MAFF ZNF341 EBF1 KLF9 MAX SENCR FLI1 HSALNG0088109 KCNJ1
GH11J128684 Promoter/Enhancer 0.9 Ensembl ENCODE dbSUPER 250.7 -0.1 -62 0.8 CBX8 EZH2 ZNF143 USF2 FLI1 LOC101929538 ETS1-AS1 LOC105369568 ETS1
GH11J128688 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 250.7 +1.2 1245 0.2 EGR1 EZH2 BACH1 FLI1 LOC101929538 HSALNG0088109 KCNJ1
GH11J128689 Promoter/Enhancer 0.8 Ensembl ENCODE dbSUPER 250.7 +1.7 1705 0.3 EZH2 FLI1 LOC101929538 HSALNG0088109 KCNJ1
GH11J128687 Enhancer 0.6 ENCODE dbSUPER 250.7 +0.9 868 0.2 SPI1 EZH2 BACH1 FLI1 LOC101929538 HSALNG0088109 KCNJ1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FLI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLI1

Top Transcription factor binding sites by QIAGEN in the FLI1 gene promoter:
  • AML1a
  • AP-1
  • c-Jun
  • MyoD
  • STAT3

Genomic Locations for FLI1 Gene

Latest Assembly
chr11:128,685,263-128,813,267
(GRCh38/hg38)
Size:
128,005 bases
Orientation:
Plus strand

Previous Assembly
chr11:128,556,430-128,683,162
(GRCh37/hg19 by Entrez Gene)
Size:
126,733 bases
Orientation:
Plus strand

chr11:128,556,430-128,683,162
(GRCh37/hg19 by Ensembl)
Size:
126,733 bases
Orientation:
Plus strand

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 Structure • Gene Density

RefSeq DNA sequence for FLI1 Gene

Proteins for FLI1 Gene

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  3. Assay products for research

  • 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

Protein Expression for FLI1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FLI1 Gene

  • Ubiquitination at Lys172
  • Modification sites at PhosphoSitePlus

Other Protein References for FLI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for FLI1

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

Protein Domains for FLI1 Gene

InterPro:
Blocks:
  • Sterile alpha motif (SAM)/Pointed domain
ProtoNet:

Suggested Antigen Peptide Sequences for FLI1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52260, highly similar to Friend leukemia integration 1 transcription factor (B4DFV4_HUMAN)
  • Transcription factor ERGB (FLI1_HUMAN)
  • ERGB transcription factor (Q9UEE2_HUMAN)
  • ERGB transcription fuctor (Q9UEE3_HUMAN)

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

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  6. Cell Lines for research

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding TAS 1522903
GO:0003682 chromatin binding IEA --
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 Models for research

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

Inhibitory RNAs for research

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

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

Nucleus.

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
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for FLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,IDA 28255014
GO:0005654 nucleoplasm IDA --
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

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FLI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007599 hemostasis TAS 10891501
GO:0008015 blood circulation IEA --
GO:0009887 animal organ morphogenesis TAS,IEA --
genes like me logo Genes that share ontologies with FLI1: view

Drugs & Compounds for FLI1 Gene

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  1. Drug products for research

(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

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mRNA/cDNA for FLI1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

Expression for FLI1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for FLI1 Gene
mRNA expression by GTEx for FLI1 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLI1

SOURCE GeneReport for Unigene cluster for FLI1 Gene:

Hs.504281

Evidence on tissue expression from TISSUES for FLI1 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Spleen(2.4)
  • Lymph node(2.3)
  • Intestine(2.3)
  • Heart(2.1)
  • Muscle(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

Primer products for research

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 30 31
  • 99.78 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FLI1 30 31
  • 92.54 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FLI1 31
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FLI1 30 31
  • 91.89 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Fli1 30 17 31
  • 90.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fli1 30
  • 90.86 (n)
Chicken
(Gallus gallus)
 Aves FLI1 30 31
  • 82.67 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FLI1 31
  • 87 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fli1 30
  • 73.6 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1184 30
Zebrafish
(Danio rerio)
 Actinopterygii fli1a 30 31
  • 75.87 (n)
 OneToOne
fli1 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3935 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Ets65A 32
  • 61 (a)
Ets21C 31 32
  • 29 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea C42D8.4 32
  • 79 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 30 (a)
 ManyToMany
-- 31
  • 30 (a)
 ManyToMany
-- 31
  • 28 (a)
 ManyToMany
Species where no ortholog for FLI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLI1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
986337 Likely Pathogenic: Bleeding disorder, platelet-type, 21 128,810,481(+) G/T
NM_002017.5(FLI1):c.852G>T (p.Trp284Cys) 		MISSENSE
988011 Uncertain Significance: Bleeding disorder, platelet-type, 21 128,758,299(+) G/T
NM_002017.5(FLI1):c.203G>T (p.Arg68Leu) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs1064797083 Likely Pathogenic: Bleeding disorder, platelet-type, 21. Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443] 128,810,638(+) C/Tp.Arg337Trp
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) 		MISSENSE
rs1064797084 Pathogenic: Bleeding disorder, platelet-type, 21. Bleeding disorder, platelet-type 21 (BDPLT21) [MIM:617443] 128,810,657(+) A/Gp.Tyr343Cys
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys) 		MISSENSE
rs1064797085 Pathogenic/Likely Pathogenic: Thrombocytopenia; Abnormal bleeding; Bleeding disorder, platelet-type, 21 128,810,619(+) GAATT/G
NM_002017.5(FLI1):c.992_995del (p.Asn331fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FLI1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for FLI1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for FLI1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for FLI1

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

No data available for Genatlas for FLI1 Gene

Publications for FLI1 Gene

  1. Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. (PMID: 28255014) Saultier P … Alessi MC (Haematologica 2017) 3 4 74
  2. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PMID: 18174230) Miyagawa H … Horiuchi T (Rheumatology (Oxford, England) 2008) 3 23 41
  3. 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 23
  4. 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
  5. 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

ExternalLinks

View latest publications for FLI1 gene in Mastermind

Products for FLI1 Gene

  • Addgene plasmids for FLI1

Sources for FLI1 Gene