Overview

Location [1]
18q12.3
Protein [2]
SET-binding protein
Synonyms [1]
SEB, MRD29

SET binding protein 1 (SETBP1) is a gene that encodes a protein that includes a ski homology region, a SET-binding region, and three nuclear localization signals. Missense, nonsense, and silent mutations are observed in cancers such as colorectal cancer, leukemias, lung cancer, and skin cancer.

SETBP1 is altered in 0.42% of all cancers with acute myeloid leukemia, myelodysplastic syndromes, and lung adenocarcinoma having the greatest prevalence of alterations [3].

SETBP1 GENIE Cases - Top Diseases

The most common alterations in SETBP1 are SETBP1 Codon 868 Missense (0.07%), SETBP1 Loss (0.06%), SETBP1 D868N (0.06%), SETBP1 Codon 870 Missense (0.05%), and SETBP1 G870S (0.03%) [3].

SETBP1 GENIE Cases - Top Alterations

Significance of SETBP1 in Diseases

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Secondary Myelodysplastic Syndrome +

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.