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 .
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%) .
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.