Overview

Location [1]
22q12.2
Synonyms [1]
bK984G1.4, EWS, EWS-FLI1

EWS RNA-binding protein 1 (EWSR1) is a gene that encodes a protein that functions in gene expression, cell signaling, and RNA processing and transport. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, parathyroid cancer, and skin cancer.

Significance of EWSR1 in Diseases

Ewing Sarcoma +

Malignant Solid Tumor +

Clear Cell Sarcoma Of Soft Tissue +

Chondrosarcoma +

Dedifferentiated Chondrosarcoma +

Desmoplastic Small Round Cell Tumor +

Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor +

Myxoid Liposarcoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Primitive Neuroectodermal Tumor +

Sarcoma +

Soft Tissue Sarcoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.