Overview

Location [1]
19p13.3
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Histone-lysine N-methyltransferase, H3 lysine-79 specific
Synonyms [1]
DOT1, KMT4

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 2.08% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

DOT1L GENIE Cases - Top Diseases

The most common alterations in DOT1L are DOT1L Mutation (1.36%), DOT1L Loss (0.11%), DOT1L Amplification (0.02%), DOT1L T735M (0.01%), and DOT1L W305C (0.01%) [3].

DOT1L GENIE Cases - Top Alterations

Significance of DOT1L in Diseases

Urothelial Carcinoma +

Bladder Carcinoma +

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.