Overview

Location [1]
7q34
Protein [2]
Kell blood group glycoprotein
Synonyms [1]
CD238, ECE3, Kell

Kell blood group, metallo-endopeptidase (KEL) is a gene that encodes a type II transmembrane glycoprotein, which is the highly polymorphic Kell blood group antigen. Missense mutations, synonymous mutations, and nonsense mutations are observed in cancers such as skin cancer, testicular cancer, and lung cancer.

KEL is altered in 3.90% of all cancers with cutaneous melanoma, lung adenocarcinoma, colon adenocarcinoma, melanoma, and non-small cell lung carcinoma having the greatest prevalence of alterations [3].

KEL GENIE Cases - Top Diseases

The most common alterations in KEL are KEL Amplification (0.43%), KEL I278L (0.22%), KEL D497N (0.24%), KEL E309K (0.18%), and KEL M365I (0.18%) [3].

KEL GENIE Cases - Top Alterations

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.