Biomarkers /
TFE3
Overview
Transcription factor binding to IGHM enhancer 3 (TFE3) is a gene that encodes a protein that promotes the expression of genes downstream of transforming growth factor beta signaling. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as adrenal cancer, intestinal cancer, and skin cancer.
TFE3 is altered in 0.52% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, translocation-associated renal cell carcinoma, and alveolar soft part sarcoma having the greatest prevalence of alterations [3].
The most common alterations in TFE3 are TFE3 Mutation (1.23%), TFE3 Fusion (0.10%), TFE3 G470S (0.07%), TFE3-ASPSCR1 Fusion (0.02%), and TFE3 Amplification (0.07%) [3].
Clinical Trials
Significance of TFE3 in Diseases
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.