Gene: FLI1

Alternate names for this Gene: BDPLT21|EWSR2|SIC-1

Gene 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 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.3

Description of this Gene: Fli-1 proto-oncogene, ETS transcription factor

Type of Gene: protein-coding

rs648193 in FLI1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs11221443 in FLI1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs654723 in FLI1 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs1064797086 in FLI1 gene and Jacobsen Distal 11q Deletion Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs665440 in FLI1 gene and Myopia, Degenerative PMID 23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

rs1623169 in FLI1 gene and Regular astigmatism - corneal PMID 30306274 2018 Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

rs561079 in FLI1 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.