FLI1 (Fli-1 proto-oncogene, ETS transcription factor)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2313
Gene name Gene Name - the full gene name approved by the HGNC.
Fli-1 proto-oncogene, ETS transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLI1
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT21, EWSR2, FLI-1, SIC-1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.3
Summary Summary of gene provided in NCBI Entrez 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 sar
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs773148506 C>A,T Pathogenic Missense variant, coding sequence variant, synonymous variant
rs1064797083 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1064797084 A>G Pathogenic Missense variant, coding sequence variant
rs1064797085 ATTA>- Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant
rs1064797086 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(81)
miRTarBase ID miRNA Experiments Reference
MIRT004496 hsa-miR-145-5p qRT-PCR, Luciferase reporter assay, Western blot 20382729
MIRT005349 hsa-miR-155-5p Western blot 18950466
MIRT004496 hsa-miR-145-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20737575
MIRT004496 hsa-miR-145-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20737575
MIRT004496 hsa-miR-145-5p Luciferase reporter assay, Western blot 21217773
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
ELF1 Activation 19829305
ETS1 Activation 19829305
ETS2 Activation 19829305
FLI1 Activation 19829305
GATA1 Unknown 10523830
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 31146003
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
193067 3749 ENSG00000151702
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q01543
Protein name Friend leukemia integration 1 transcription factor (Proto-oncogene Fli-1) (Transcription factor ERGB)
Protein function Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'.
PDB 1FLI , 1X66 , 2YTU , 5E8G , 5E8I , 5JVT , 6VG2 , 6VG8 , 6VGD , 9CP6 , 9MWY , 9MX8 , 9MX9 , 9MXA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 114 → 198 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 282 → 361 Ets-domain Domain
Sequence 
MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQ
PVRVNVKREYDHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTN
ERRVIVPADPTLWTQEHVRQWLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATT
LYNTEVLLSHLSYLRESSLLAYNTTSHTDQSSRLSVKEDPSYDSVRRGAWGNNMNSGLNK
SPPLGGAQTISKNTEQRPQPDPYQILGPTSSRLANPGSGQIQLWQFLLELLSDSANASCI
TWEGTNGEFKMTDPDEVARRWGERKSKPNMNYDKLSRALRYYYDKNIMTKVHGKRYAYKF
DFHGIAQALQPHPTESSMYKYPSDISYMPSYHAHQQKVNFVPPHPSSMPVTSSSFFGAAS
QYWTSPTGGIYPNPNVPRHPNTHVPSHLGSYY
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Transcriptional misregulation in cancer  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bleeding Disorder bleeding disorder, platelet-type, 21 rs1064797085, rs1064797087, rs773148506, rs1064797083 N/A
thrombocytopenia Thrombocytopenia rs1064797085 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Follicular lymphoma Follicular lymphoma N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Show/Hide Text Mining Associations (95)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 16917000
Adenocarcinoma Associate 16917000, 25870707, 25914746
Aneuploidy Stimulate 33293370
Angiosarcoma of the breast Associate 36555675
Arthritis Rheumatoid Associate 21452313, 24532676, 36397345
Astrocytoma Associate 28418872
Blood Coagulation Disorders Inherited Associate 26316623
Bone Diseases Associate 7524604
Bone Neoplasms Associate 37478161
Brain Neoplasms Associate 32795351