Overview

Location [1]
3q22.2
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Ephrin type-B receptor 1
Synonyms [1]
ELK, NET, Hek6, EPHT2

EPH receptor B1 (EPHB1) is a gene that encodes a transmembrane receptor protein. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.

EPHB1 is altered in 2.47% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, prostate adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

EPHB1 GENIE Cases - Top Diseases

The most common alterations in EPHB1 are EPHB1 Mutation (2.18%), EPHB1 Amplification (0.14%), EPHB1 Loss (0.10%), EPHB1 T387M (0.03%), and EPHB1 V322I (0.03%) [3].

EPHB1 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.