Overview

DOT1-like histone H3K79 methyltransferase (DOT1L) is a gene that encodes a protein that functions as a histone meythltransferase that methylates lysine-79 of histone H3. Missense mutations, nonsense mutations, silent mutations, frameshift insertions, and in-frame deletions are observed in cancers such as intestinal cancer, stomach cancer, and cancers of the urinary tract.

DOT1L is altered in 2.46% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

The most common alterations in DOT1L are DOT1L Mutation (2.02%), DOT1L Loss (0.23%), DOT1L Amplification (0.06%), DOT1L R853C (0.02%), and DOT1L T735M (0.02%) [3].

Significance of DOT1L in Diseases

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.