FLI1
Fli-1 proto-oncogene, ETS transcription factor, the group of ETS transcription factor family
Basic information
Region (hg38): 11:128686535-128813267
Links
Phenotypes
GenCC
Source:
- bleeding disorder, platelet-type, 21 (Moderate), mode of inheritance: AD
- bleeding disorder, platelet-type, 21 (Limited), mode of inheritance: AR
- bleeding disorder, platelet-type, 21 (Strong), mode of inheritance: AD
- bleeding disorder, platelet-type, 21 (Moderate), mode of inheritance: AD
- bleeding disorder, platelet-type, 21 (Moderate), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Thrombocytopenia, Paris-Trousseau type; Bleeding disorder, platelet type 21 | AD/AR | Hematologic | Individuals may have bleeding tendency, and precautions (eg, in surgical situations) may be beneficial | Hematologic | 14597985; 22887642; 24100448; 26316623; 28255014 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (161 variants)
- Inborn_genetic_diseases (28 variants)
- FLI1-related_disorder (20 variants)
- Bleeding_disorder,_platelet-type,_21 (14 variants)
- not_specified (4 variants)
- Thrombocytopenia (1 variants)
- Abnormal_bleeding (1 variants)
- Bleeding_disorder_platelet_type_macrothrombocytopenia (1 variants)
- 11q_partial_monosomy_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002017.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 67 | 68 | ||||
| missense | 80 | 90 | ||||
| nonsense | 4 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 3 | |||||
| splice donor/acceptor (+/-2bp) | 2 | |||||
| Total | 3 | 7 | 87 | 70 | 1 |
Highest pathogenic variant AF is 0.000001859236
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FLI1 | protein_coding | protein_coding | ENST00000527786 | 9 | 126733 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.989 | 0.0106 | 124926 | 0 | 4 | 124930 | 0.0000160 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.40 | 164 | 276 | 0.593 | 0.0000169 | 2978 |
| Missense in Polyphen | 51 | 111.98 | 0.45542 | 1167 | ||
| Synonymous | -0.785 | 131 | 120 | 1.09 | 0.00000878 | 836 |
| Loss of Function | 4.00 | 2 | 22.5 | 0.0889 | 0.00000106 | 262 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000358 | 0.0000353 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'. {ECO:0000269|PubMed:24100448, ECO:0000269|PubMed:26316623, ECO:0000269|PubMed:28255014}.;
- Disease
- DISEASE: 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}.; DISEASE: 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.;
- Pathway
- Transcriptional misregulation in cancer - Homo sapiens (human);Hematopoietic Stem Cell Differentiation;FGF
(Consensus)
Intolerance Scores
- loftool
- 0.368
- rvis_EVS
- -0.89
- rvis_percentile_EVS
- 10.3
Haploinsufficiency Scores
- pHI
- 0.615
- hipred
- Y
- hipred_score
- 0.792
- ghis
- 0.603
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.953
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fli1
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; muscle phenotype; immune system phenotype; cellular phenotype; liver/biliary system phenotype; embryo phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- fli1a
- Affected structure
- head
- Phenotype tag
- abnormal
- Phenotype quality
- hemorrhagic
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;hemostasis;blood circulation;animal organ morphogenesis;cell differentiation;megakaryocyte development;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
- Cellular component
- nucleus;cytosol;nuclear body
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;RNA polymerase II distal enhancer sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;chromatin binding;DNA-binding transcription factor activity;protein binding