Overview

Location [1]
22q12.2
Protein [2]
RNA-binding protein EWS
Synonyms [1]
bK984G1.4, EWS-FLI1, EWS

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.

EWSR1 is altered in 1.58% of all cancers with Ewing sarcoma, desmoplastic small round cell tumor, lung adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

EWSR1 GENIE Cases - Top Diseases

The most common alterations in EWSR1 are EWSR1 Mutation (0.41%), EWSR1 Loss (0.02%), EWSR1 P622Lfs*4 (0.01%), EWSR1 S230G (0.01%), and EWSR1 Amplification (0.01%) [3].

EWSR1 GENIE Cases - Top Alterations

Significance of EWSR1 in Diseases

Ewing Sarcoma +

Clear Cell Sarcoma Of Soft Tissue +

Chondrosarcoma +

Dedifferentiated Chondrosarcoma +

Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor +

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 6. 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.