Location [1]
Protein [2]
F-box-like/WD repeat-containing protein TBL1XR1
Synonyms [1]
IRA1, DC42, MRD41, TBLR1, C21

Transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1) is a gene that encodes a protein that possesses regulatory roles in protein-protein interactions, signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly, and cytotypic differentiation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and parathyroid cancer.

TBL1XR1 is altered in 0.91% of all cancers with breast invasive ductal carcinoma, diffuse large B-cell lymphoma, not otherwise specified, follicular lymphoma, breast invasive lobular carcinoma, and chronic lymphocytic leukemia/small lymphocytic lymphoma having the greatest prevalence of alterations [3].

TBL1XR1 GENIE Cases - Top Diseases

The most common alterations in TBL1XR1 are TBL1XR1 Amplification (1.33%), TBL1XR1 Loss (0.09%), TBL1XR1 G267V (0.07%), TBL1XR1-PIK3CA Fusion (0.81%), and TBL1XR1 C325Y (0.05%) [3].

TBL1XR1 GENIE Cases - Top Alterations


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.