FLI1

Chr 11ADAR

Fli-1 proto-oncogene, ETS transcription factor

Also known as: BDPLT21, EWSR2, FLI-1, SIC-1

NCBI Gene: 2313 ENSG00000151702 UniProt: Q01543 OMIM: 193067

FLI1 encodes a transcription factor with an ETS DNA-binding domain that functions as a sequence-specific transcriptional activator. Mutations cause bleeding disorder, platelet-type, 21, inherited in both autosomal dominant and autosomal recessive patterns. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.28), indicating intolerance to functional disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bleeding disorder, platelet-type, 21MIM #617443

ADAR

UniProtEwing sarcoma

Clinical highlights

Gene-disease validity (ClinGen)

bleeding disorder, platelet-type, 21 · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

235

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· predicted