Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

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

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

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

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
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
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

	KEGG
	Transcriptional misregulation in cancer

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Likely pathogenic; Pathogenic	rs1064797085	RCV001270513
Bleeding disorder platelet type macrothrombocytopenia	Pathogenic	rs773148506	RCV000197145
Bleeding disorder, platelet-type, 21	Likely pathogenic; Pathogenic	rs2135925063, rs1131691896, rs2497517912, rs773148506, rs1064797083, rs1064797085, rs1064797087	RCV002245373 RCV002245427 RCV002281010 RCV000487463 RCV000487466 RCV000487462 RCV000487460
Thrombocytopenia	Likely pathogenic; Pathogenic	rs1064797085	RCV001003905

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
11q partial monosomy syndrome	Conflicting classifications of pathogenicity	rs1064797086	RCV000851630
Cervical cancer	Likely benign	rs545501579	RCV005934800
FLI1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs367910414, rs377471737, rs749995325, rs778290469, rs2497519985, rs772608802, rs766521149, rs754201848, rs367970398, rs1241457903, rs766752439, rs372948396, rs969709718, rs920357140, rs1325974001 View all (5 more)	RCV003916761 RCV004753637 RCV003973755 RCV004753585 RCV003414339 RCV003909085 RCV003956480 RCV003939154 RCV003948951 RCV003896491 RCV003896990 RCV003921696 RCV003923830 RCV003982746 RCV003904649 RCV003934536 RCV003943813 RCV003970675 RCV003948368 RCV003970634
Uterine carcinosarcoma	Benign	rs74400777	RCV005925151

Show/Hide Text Mining Associations (95)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Breast Neoplasms	Associate	16917000, 17727680, 25779942, 26068592, 26156017, 26769141, 29869379, 30537986, 32249526, 35799892
Carcinogenesis	Associate	16829517, 23940108, 25737553, 26769141, 28410216, 29869379, 30068701, 32409605
Carcinoma Basal Cell	Associate	16917000
Carcinoma Merkel Cell	Associate	16917000
Carcinoma Ovarian Epithelial	Associate	24923303
Carcinoma Small Cell	Associate	34374640
Carcinoma Squamous Cell	Associate	16917000
Chromosome Aberrations	Associate	22775407
Colorectal Neoplasms	Associate	20737575, 36655868, 37438612
Congenital amegakaryocytic thrombocytopenia	Associate	23908116
Desmoplastic Small Round Cell Tumor	Associate	16917000, 28188619, 7495283
Emanuel syndrome	Associate	28494941, 8238248
Esthesioneuroblastoma Olfactory	Associate	16917000
Fibrosarcoma	Associate	24517889
Fibrosis	Associate	16829517
Gastrointestinal Stromal Tumors	Associate	19530039
Glioblastoma	Associate	16917000, 32409605
Graft vs Host Disease	Associate	36074578
Hemangiosarcoma	Associate	18671846, 32795351
Hematologic Neoplasms	Associate	28410216, 30537986, 38280044
Hemorrhage	Associate	24100448, 35021601
Hodgkin Disease	Associate	37428779
Hypersensitivity Immediate	Associate	12377657
Hypoxia	Stimulate	20442286, 23579072
Hypoxia	Associate	32049009, 34763718
Iliac Aneurysm	Associate	16864960
Immunologic Deficiency Syndromes	Associate	34440371, 35763218
Inflammation	Associate	20879862, 23020131
Jacobsen Distal 11q Deletion Syndrome	Associate	15232614, 22775407, 26316623, 26494917, 28663223, 39482005
Kaposiform Hemangioendothelioma	Associate	37978357
Leukemia	Associate	25779942, 31894299
Leukemia Myeloid Acute	Associate	21917756, 22983443, 34075404, 34768865, 35624144
Liposarcoma	Associate	16917000
Liver Neoplasms	Associate	27090685
Lupus Erythematosus Systemic	Associate	21087477, 25986394, 36703979
Lupus Erythematosus Systemic	Inhibit	36397345
Lymphatic Metastasis	Associate	26156017, 31675985
Lymphoma	Associate	23441188
Lymphoma Follicular	Associate	38280044
Lymphoma Large B Cell Diffuse	Associate	23926301, 34763718
Lymphoma Non Hodgkin	Associate	16917000
Melanoma	Associate	23020131, 37435067
Melanoma Cutaneous Malignant	Associate	31472243
Mosaic variegated aneuploidy syndrome	Inhibit	25483190
Mosaic variegated aneuploidy syndrome	Associate	33293370
Myoepithelioma	Associate	26261664
Nasopharyngeal Carcinoma	Associate	16308470, 36814284
Neoplasm Metastasis	Associate	16308470, 26068592, 26156017, 30537986, 31675985, 32210104
Neoplasm Metastasis	Stimulate	29869379
Neoplasms	Associate	10702401, 11140696, 16917000, 16941013, 17632456, 17727680, 19150107, 19404404, 19530039, 19859563, 20737575, 22907727, 23134683, 23579072, 24072183 View all (35 more)
Neoplasms	Inhibit	26769141, 34763718, 37471463
Nephritis	Associate	21087477
Neuroectodermal Tumors Primitive	Associate	16803953, 16917000, 19530039, 21113140, 28296680, 8238248
Neuroectodermal Tumors Primitive Peripheral	Associate	10702401, 12683899, 15335184, 16917000, 20480407, 8644855
Oncogene Addiction	Associate	10194443
Ovarian Diseases	Associate	24923303
Ovarian Neoplasms	Associate	24923303
Pancreatic Neoplasms	Associate	16941013, 34461940, 37233428
Platelet granule deficiency disorder	Associate	24100448
Polyps	Associate	25314065
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	16917000, 19530039, 38280044
Prostatic Neoplasms	Associate	23940108, 25544710, 26564800, 32210104
Prostatitis	Associate	23185447, 23814484, 31472243, 36125519
Rhabdomyosarcoma	Associate	16917000
Sarcoma	Associate	15183454, 19404404, 24072183, 25300797, 25870707, 25914746, 26261664, 29104083, 31232935
Sarcoma Ewing	Associate	11140696, 12086853, 12377657, 12736494, 14760098, 15001993, 15183454, 15282325, 16100468, 16258512, 16864960, 16917000, 17334332, 17482132, 17620387 View all (142 more)
Sarcoma Ewing	Inhibit	23145994, 37471463
Sarcoma Small Cell	Associate	15001993
Scleroderma Systemic	Associate	16802366, 23041765, 25986394
Small Cell Lung Carcinoma	Associate	16917000, 28410216
Soft Tissue Neoplasms	Associate	25870707, 25914746, 26929321
Squamous Cell Carcinoma of Head and Neck	Associate	28814981
Stomach Neoplasms	Associate	26769141, 31151932, 31675985
Tertiary Lymphoid Structures	Stimulate	24923303
Thrombasthenia Thrombocytopenia Hereditary	Associate	22775407
Thrombocythemia Essential	Associate	30889303
Thrombocytopenia	Associate	22775407, 24100448, 26316623, 26494917, 28255014
Thrombocytopenia chromosome breakage	Associate	24430186
Thyroid Cancer Papillary	Associate	34374640
Thyroiditis	Associate	34374640
Triple Negative Breast Neoplasms	Stimulate	29869379
Urinary Bladder Neoplasms	Associate	16917000
Uterine Cervical Neoplasms	Associate	37047006
Vascular Neoplasms	Associate	15001993, 16917000
Vulvar Neoplasms	Associate	26261664

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