Overview

Location [1]
Xq22.1
Pathway
Immune checkpoints
Protein [2]
Tyrosine-protein kinase BTK
Synonyms [1]
AT, BPK, PSCTK1, XLA, ATK, IMD1, AGMX1

Bruton agammaglobulinemia tyrosine kinase (BTK) is a gene that encodes a protein that functions in B-cell development. Missense, nonsense, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

BTK is altered in 1.18% of all cancers with non-small cell lung carcinoma, breast carcinoma, melanoma, colorectal adenocarcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

BTK GENIE Cases - Top Diseases

The most common alterations in BTK are BTK Mutation (0.59%), BTK Loss (0.08%), BTK Amplification (0.03%), BTK E488K (0.01%), and BTK R123W (0.01%) [3].

BTK GENIE Cases - Top Alterations

Significance of BTK in Diseases

Chronic Lymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.