Overview

Location [1]
Xp11.23
Protein [2]
Transcription factor E3
Synonyms [1]
TFEA, RCCP2, bHLHe33, RCCX1

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 1.41% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and squamous cell lung carcinoma having the greatest prevalence of alterations [3].

TFE3 GENIE Cases - Top Diseases

The most common alterations in TFE3 are TFE3 Mutation (0.23%), TFE3 G482Dfs*44 (0.02%), TFE3 Amplification (0.01%), TFE3 G480V (0.01%), and TFE3 V157I (0.01%) [3].

TFE3 GENIE Cases - Top Alterations

Significance of TFE3 in Diseases

Renal Cell Carcinoma +

Chromophobe Renal Cell Carcinoma +

Non-Clear Cell Renal Cell Carcinoma +

Papillary Renal Cell Carcinoma +

Translocation-Associated Renal Cell Carcinoma +

Unclassified Renal Cell Carcinoma +

Malignant Solid Tumor +

Sarcomatoid Renal Cell Carcinoma +

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.