Biomarkers /
ELL
Overview
Elongation factor RNA polymerase II (ELL) is a gene that encodes a protein that functions as an elongation component of the super elongation complex (SEC). The protein regulates the small nuclear RNA (snRNA) gene transcription. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
ELL is altered in 0.08% of all cancers with acute myeloid leukemia, lung adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].
The most common alteration in ELL is ELL-KMT2A Fusion (0.01%) [3].
Clinical Trials
Significance of ELL in Diseases
B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +
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.