Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
6p21.1
Protein [2]
Transcription factor EB
Synonyms [1]
BHLHE35, TCFEB, ALPHATFEB

TFEB is altered in 0.76% of all cancers with conventional glioblastoma multiforme, anaplastic astrocytoma, anaplastic oligodendroglioma, skin squamous cell carcinoma, and basal cell carcinoma having the greatest prevalence of alterations [3].

TFEB GENIE Cases - Top Diseases

The most common alterations in TFEB are TFEB A135T (0.09%), TFEB D283A (0.07%), TFEB D432N (0.07%), TFEB E14* (0.07%), and TFEB E349Q (0.07%) [3].

TFEB GENIE Cases - Top Alterations

Significance of TFEB in Diseases

Renal Cell Carcinoma +

Malignant Solid Tumor +

Translocation-Associated 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 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.