EWSR1 Summary

This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]

EWSR1 Details

Gene Symbol : EWSR1

Gene Name : EWS RNA binding protein 1

Chromosome : CHR 22: 292,680,08-293,005,24

Locus : 22q12.2

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TTC28 Details

Gene Symbol : TTC28

Gene Name : Tetratricopeptide repeat domain 28

Chromosome : CHR 22: 286,798,64-279,780,13

Locus : 22q12.1

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