Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2313
Gene name	Fli-1 proto-oncogene, ETS transcription factor
Gene symbol	FLI1
Synonyms (NCBI Gene)	BDPLT21EWSR2FLI-1SIC-1
Chromosome	11
Chromosome location	11q24.3
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 sar

7 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
rs1064797087	A>G	Pathogenic	Missense variant, coding sequence variant
rs1131691896	G>A	Likely-pathogenic	Missense variant, coding sequence variant

81 Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004496	hsa-miR-145-5p	qRT-PCRLuciferase reporter assayWestern blot	20382729
MIRT005349	hsa-miR-155-5p	Western blot	18950466
MIRT004496	hsa-miR-145-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern blot	20737575
MIRT004496	hsa-miR-145-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern blot	20737575
MIRT004496	hsa-miR-145-5p	Luciferase reporter assayWestern blot	21217773
MIRT005349	hsa-miR-155-5p	Proteomics	20584899
MIRT023015	hsa-miR-124-3p	Microarray	18668037
MIRT004496	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	27304058
MIRT004496	hsa-miR-145-5p	Luciferase reporter assayqRT-PCRWestern blot	27304058
MIRT734748	hsa-miR-26a-1-3p	Luciferase reporter assayWestern blottingqRT-PCR	33843426
MIRT737491	hsa-miR-26a-5p	Western blottingqRT-PCR	33843426
MIRT998305	hsa-miR-1248	CLIP-seq
MIRT998306	hsa-miR-1262	CLIP-seq
MIRT998307	hsa-miR-145	CLIP-seq
MIRT998308	hsa-miR-216a	CLIP-seq
MIRT998309	hsa-miR-224	CLIP-seq
MIRT998310	hsa-miR-3124-3p	CLIP-seq
MIRT998311	hsa-miR-3164	CLIP-seq
MIRT998312	hsa-miR-371-5p	CLIP-seq
MIRT998313	hsa-miR-371b-5p	CLIP-seq
MIRT998314	hsa-miR-4259	CLIP-seq
MIRT998315	hsa-miR-4276	CLIP-seq
MIRT998316	hsa-miR-4420	CLIP-seq
MIRT998317	hsa-miR-4697-3p	CLIP-seq
MIRT998318	hsa-miR-4701-3p	CLIP-seq
MIRT998319	hsa-miR-570	CLIP-seq
MIRT998320	hsa-miR-587	CLIP-seq
MIRT998321	hsa-miR-668	CLIP-seq
MIRT998322	hsa-miR-2113	CLIP-seq
MIRT998323	hsa-miR-3125	CLIP-seq
MIRT998324	hsa-miR-3136-3p	CLIP-seq
MIRT998325	hsa-miR-3140-3p	CLIP-seq
MIRT998326	hsa-miR-375	CLIP-seq
MIRT998327	hsa-miR-3916	CLIP-seq
MIRT998328	hsa-miR-3927	CLIP-seq
MIRT998329	hsa-miR-4451	CLIP-seq
MIRT998330	hsa-miR-4641	CLIP-seq
MIRT998331	hsa-miR-4753-3p	CLIP-seq
MIRT998332	hsa-miR-548a-3p	CLIP-seq
MIRT998333	hsa-miR-548e	CLIP-seq
MIRT998334	hsa-miR-548f	CLIP-seq
MIRT998335	hsa-miR-548p	CLIP-seq
MIRT998336	hsa-miR-664	CLIP-seq
MIRT998337	hsa-miR-758	CLIP-seq
MIRT998338	hsa-miR-877	CLIP-seq
MIRT998339	hsa-miR-944	CLIP-seq
MIRT1995891	hsa-miR-1237	CLIP-seq
MIRT2229927	hsa-miR-3065-3p	CLIP-seq
MIRT2229928	hsa-miR-3909	CLIP-seq
MIRT2388015	hsa-miR-330-3p	CLIP-seq
MIRT2388016	hsa-miR-4422	CLIP-seq
MIRT2388017	hsa-miR-627	CLIP-seq
MIRT2465304	hsa-miR-200b	CLIP-seq
MIRT2465305	hsa-miR-200c	CLIP-seq
MIRT2465306	hsa-miR-374c	CLIP-seq
MIRT2465307	hsa-miR-429	CLIP-seq
MIRT2465308	hsa-miR-4318	CLIP-seq
MIRT2465309	hsa-miR-4677-3p	CLIP-seq
MIRT2465310	hsa-miR-4693-5p	CLIP-seq
MIRT2465311	hsa-miR-655	CLIP-seq
MIRT2465312	hsa-miR-892a	CLIP-seq
MIRT2533820	hsa-miR-146b-3p	CLIP-seq
MIRT2229927	hsa-miR-3065-3p	CLIP-seq
MIRT2229928	hsa-miR-3909	CLIP-seq
MIRT998332	hsa-miR-548a-3p	CLIP-seq
MIRT998333	hsa-miR-548e	CLIP-seq
MIRT998334	hsa-miR-548f	CLIP-seq
MIRT2533821	hsa-miR-548g	CLIP-seq
MIRT1995891	hsa-miR-1237	CLIP-seq
MIRT2681029	hsa-miR-217	CLIP-seq
MIRT2229927	hsa-miR-3065-3p	CLIP-seq
MIRT2229928	hsa-miR-3909	CLIP-seq
MIRT2681030	hsa-miR-4418	CLIP-seq
MIRT2681031	hsa-miR-4718	CLIP-seq
MIRT2681032	hsa-miR-4724-3p	CLIP-seq
MIRT2681033	hsa-miR-509-3-5p	CLIP-seq
MIRT2681034	hsa-miR-509-5p	CLIP-seq
MIRT998332	hsa-miR-548a-3p	CLIP-seq
MIRT998333	hsa-miR-548e	CLIP-seq
MIRT998334	hsa-miR-548f	CLIP-seq
MIRT2533821	hsa-miR-548g	CLIP-seq

6 Show/Hide all (6)

Transcription factor	Regulation	Reference
ELF1	Activation	19829305
ETS1	Activation	19829305
ETS2	Activation	19829305
FLI1	Activation	19829305
GATA1	Unknown	10523830
SPI1	Unknown	10523830

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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
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	1522903
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	10891501
GO:0005515	Function	Protein binding	IPI	20211142, 25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28255014
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007599	Process	Hemostasis	TAS	10891501
GO:0008015	Process	Blood circulation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10891501
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0035855	Process	Megakaryocyte development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	26316623
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	31146003
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
193067	3749	ENSG00000151702

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
PF00178	Ets	282 → 361	Ets-domain	Domain
PF02198	SAM_PNT	114 → 198	Sterile alpha motif (SAM)/Pointed domain	Domain

Sequence

MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQ
PVRVNVKREYDHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTN
ERRVIVPADPTLWTQEHVRQWLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATT
LYNTEVLLSHLSYLRESSLLAYNTTSHTDQSSRLSVKEDPSYDSVRRGAWGNNMNSGLNK
SPPLGGAQTISKNTEQRPQPDPYQILGPTSSRLANPGSGQIQLWQFLLELLSDSANASCI
TWEGTNGEFKMTDPDEVARRWGERKSKPNMNYDKLSRALRYYYDKNIMTKVHGKRYAYKF
DFHGIAQALQPHPTESSMYKYPSDISYMPSYHAHQQKVNFVPPHPSSMPVTSSSFFGAAS
QYWTSPTGGIYPNPNVPRHPNTHVPSHLGSYY

Sequence length

452

Interactions

View interactions

KEGG Pathway
Transcriptional misregulation in cancer

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Likely pathogenic; Pathogenic	rs1064797085	RCV001270513	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bleeding disorder platelet type macrothrombocytopenia	Pathogenic	rs773148506	RCV000197145	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bleeding disorder, platelet-type, 21	Likely pathogenic; Pathogenic	rs2135925063, rs1131691896, rs2497517912, rs773148506, rs1064797083, rs1064797085, rs1064797087	RCV002245373 RCV002245427 RCV002281010 RCV000487463 RCV000487466 RCV000487462 RCV000487460 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs1064797085	RCV001003905	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (23)
11q partial monosomy syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	39189922	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD PLATELET DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	31407831	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	28468790	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	30306274	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRASKELETAL EWING SARCOMA	—	Orphanet	11570916, 16517542, 18769338, 9072004	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FLI1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	37337107	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	19270706	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	31604244	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARIS-TROUSSEAU THROMBOCYTOPENIA	—	Disgenet, Orphanet Disgenet, Orphanet	22775407, 7703487	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL PRIMITIVE NEUROECTODERMAL TUMOR	—	Orphanet	7506981, 8644855	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	22446963, 24390342, 24532676, 30423114, 33310728, 34594039, 35470158, 36333501	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA, EWING	—	CTD	11772151, 16646077, 26214589	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL EWING SARCOMA	—	Orphanet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	26502338, 27399966, 31407831, 33272962, 36750564	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	34012112, 34127860	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30297969, 34012112, 34127860	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	27723757	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GP6	3	["Thrombocytopenia","Platelet-type bleeding disorder","Platelet disorder"]	[]	6	["CTD (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","Disgenet (Platelet disorder)","Disgenet (Thrombocytopenia)"]
SLFN14	2	["Thrombocytopenia","Platelet-type bleeding disorder"]	[]	6	["CTD (Platelet-type bleeding disorder)","Disgenet (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","Disgenet (Thrombocytopenia)"]
EPHB2	2	["Platelet-type bleeding disorder","Platelet disorder"]	[]	5	["Disgenet (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","Disgenet (Platelet disorder)"]
ACTN1	2	["Thrombocytopenia","Platelet-type bleeding disorder"]	[]	6	["CTD (Platelet-type bleeding disorder)","Disgenet (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","ClinGen (Platelet-type bleeding disorder)","Disgenet (Thrombocytopenia)"]
TPM4	3	["Thrombocytopenia","Platelet-type bleeding disorder","Platelet disorder"]	[]	5	["Disgenet (Platelet-type bleeding disorder)","HPO (Platelet-type bleeding disorder)","ClinVar (Platelet-type bleeding disorder)","Disgenet (Platelet disorder)","Disgenet (Thrombocytopenia)"]

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

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