Overview

Location [1]
1q21.3
Protein [2]
Histone-lysine N-methyltransferase SETDB1
Synonyms [1]
TDRD21, KG1T, H3-K9-HMTase4, KMT1E, ESET

SETDB1 is altered in 6.78% of all cancers with breast invasive ductal carcinoma, mixed lobular and ductal breast carcinoma, breast invasive lobular carcinoma, breast neoplasm, and diffuse large B-cell lymphoma, not otherwise specified having the greatest prevalence of alterations [3].

SETDB1 GENIE Cases - Top Diseases

The most common alterations in SETDB1 are SETDB1 Amplification (6.01%), SETDB1 Loss (0.07%), SETDB1 F670L (0.05%), SETDB1 N172S (0.08%), and SETDB1 A1024T (0.04%) [3].

SETDB1 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.