FLI1 Chromosome 11
Fli-1 proto-oncogene, ETS transcription factor
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What This Gene Does
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]
Gene Info
Gene Group
ETS transcription factor family
Locus Type
gene with protein product
Location
11q24.3
Ensembl
ENSG00000151702
Associated Conditions (9)
Bleeding disorder
platelet-type
21
11q partial monosomy syndrome
Inborn genetic diseases
FLI1-related disorder
Bleeding disorder platelet type macrothrombocytopenia
Thrombocytopenia
Abnormal bleeding
Key Variants
RS1064797084
Conflicting classifications of pathogenicity
Bleeding disorder, platelet-type, 21
Health Risk
RS1064797086
Conflicting classifications of pathogenicity
Bleeding disorder, platelet-type, 21
Health Risk
RS180719406
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200865469
Conflicting classifications of pathogenicity
Bleeding disorder, platelet-type, 21
Health Risk
RS201118331
Conflicting classifications of pathogenicity
Bleeding disorder, platelet-type, 21
Health Risk
RS1064797083
Likely pathogenic
Bleeding disorder, platelet-type, 21
Health Risk
RS1131691896
Likely pathogenic
Bleeding disorder, platelet-type, 21
Health Risk
RS2135925063
Likely pathogenic
Bleeding disorder, platelet-type, 21
Health Risk
RS1064797087
Pathogenic
Bleeding disorder, platelet-type, 21
Health Risk
RS2497517912
Pathogenic
Bleeding disorder, platelet-type, 21
Health Risk
RS773148506
Pathogenic
Bleeding disorder platelet type macrothrombocytopenia, Bleeding disorder, platelet-type
Health Risk
RS1064797085
Pathogenic/Likely pathogenic
Bleeding disorder, platelet-type, 21
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064797084 | Health Risk | Conflicting classifications of pathogenicity | Bleeding disorder, platelet-type, 21 |
| RS1064797086 | Health Risk | Conflicting classifications of pathogenicity | Bleeding disorder, platelet-type, 21 |
| RS180719406 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200865469 | Health Risk | Conflicting classifications of pathogenicity | Bleeding disorder, platelet-type, 21 |
| RS201118331 | Health Risk | Conflicting classifications of pathogenicity | Bleeding disorder, platelet-type, 21 |
| RS1064797083 | Health Risk | Likely pathogenic | Bleeding disorder, platelet-type, 21 |
| RS1131691896 | Health Risk | Likely pathogenic | Bleeding disorder, platelet-type, 21 |
| RS2135925063 | Health Risk | Likely pathogenic | Bleeding disorder, platelet-type, 21 |
| RS1064797087 | Health Risk | Pathogenic | Bleeding disorder, platelet-type, 21 |
| RS2497517912 | Health Risk | Pathogenic | Bleeding disorder, platelet-type, 21 |
| RS773148506 | Health Risk | Pathogenic | Bleeding disorder platelet type macrothrombocytopenia, Bleeding disorder, platelet-type |
| RS1064797085 | Health Risk | Pathogenic/Likely pathogenic | Bleeding disorder, platelet-type, 21 |