Overview

Location [1]
12q24.13
Protein [2]
E3 ubiquitin-protein ligase DTX1
Synonyms [1]
RNF140, hDx-1

Deltex 1, E3 ubiquitin ligase (DTX1) is a gene that encodes a protein that functions as a positive regulator of the Notch-signaling pathway. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

DTX1 is altered in 0.23% of all cancers with diffuse large B-cell lymphoma, not otherwise specified, follicular lymphoma, B-cell lymphoblastic leukemia/lymphoma, mature B-cell neoplasm, and high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements having the greatest prevalence of alterations [3].

DTX1 GENIE Cases - Top Diseases

The most common alterations in DTX1 are DTX1 C45W (0.07%), DTX1 E33D (0.07%), DTX1 Q81R (0.07%), DTX1 S59F (0.07%), and DTX1 C45* (0.05%) [3].

DTX1 GENIE Cases - Top Alterations

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.