Overview

Location [1]
17q21.33
Protein [2]
Speckle-type POZ protein
Synonyms [1]
NEDMIDF, NEDMACE, NSDVS1, BTBD32, NSDVS2, TEF2

Speckle-type POZ protein (SPOP) is a gene that encodes a protein that regulates the transcriptional repression carried out by death-associated protein 6 (DAXX). Missense mutations, nonsense mutations, silent mutations, frameshift insertions, and in-frame deletions are observed in cancers such as endometrial cancer, meningeal cancer, and prostate cancer.

SPOP is altered in 1.83% of all cancers with prostate adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, invasive breast carcinoma, and lung adenocarcinoma having the greatest prevalence of alterations [3].

SPOP GENIE Cases - Top Diseases

The most common alterations in SPOP are SPOP Mutation (1.29%), SPOP Amplification (0.58%), SPOP F133L (0.13%), SPOP F133V (0.12%), and SPOP F102C (0.07%) [3].

SPOP 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.