Overview

Location [1]
5q33.3
Protein [2]
Transcription factor COE1
Synonyms [1]
O/E-1, OLF1, EBF, COE1

Early B-cell factor 1 (EBF1) is a gene that encodes a protein that functions as a transcriptional activator. The protein recognizes variations of a specific palindromic sequence. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

EBF1 is altered in 0.37% of all cancers with colon adenocarcinoma, lung adenocarcinoma, conventional glioblastoma multiforme, melanoma, and skin squamous cell carcinoma having the greatest prevalence of alterations [3].

EBF1 GENIE Cases - Top Diseases

The most common alterations in EBF1 are EBF1-PDGFRB Fusion (0.03%), EBF1 R372H (0.11%), EBF1 G490R (0.13%), EBF1 Loss (2.17%), and EBF1 M1? (0.17%) [3].

EBF1 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.