Biomarkers /
EML4
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Associated Diseases
Overview
Echinoderm microtubule associated protein like 4 (EML4) is a gene that encodes a protein that functions in microtubule formation. Fusions, missense mutations, and silent mutations are observed in cancers such as breast cancer, ovarian cancer, and skin cancer.
EML4 is altered in 0.50% of all cancers with lung adenocarcinoma, non-small cell lung carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and adenocarcinoma of unknown primary having the greatest prevalence of alterations [3].
The most common alterations in EML4 are EML4-ALK Fusion (0.44%), EML4 Fusion (0.43%), EML4 Mutation (1.42%), EML4-NTRK3 Fusion (0.02%), and EML4-BRAF Fusion (0.18%) [3].
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.