Overview

Location [1]
1p32.3
Protein [2]
Epidermal growth factor receptor substrate 15
Synonyms [1]
AF1P, AF-1P, MLLT5

Epidermal growth factor receptor pathway substrate 15 (EPS15) is a gene that encodes a protein that plays a role in the EGFR signaling pathway. The protein functions in receptor-mediated endocytosis of EGF and is found at clatherin-coated pits. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and urinary tract cancer.

EPS15 is altered in 0.07% of all cancers with low-grade glioma, NOS, pancreatic adenocarcinoma, pilocytic astrocytoma, thyroid gland papillary carcinoma, and astrocytoma having the greatest prevalence of alterations [3].

EPS15 GENIE Cases - Top Diseases

The most common alterations in EPS15 are EPS15-BRAF Fusion (0.14%) and EPS15-ATM Fusion (0.02%) [3].

EPS15 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.