Overview

Location [1]
17q22
Pathway
PI3K/AKT1/MTOR
Protein [2]
E3 ubiquitin-protein ligase RNF43
Synonyms [1]
SSPCS, URCC, RNF124

Ring finger protein 43 (RNF43) is a gene that encodes a protein that functions as a ubiquitin ligase that facilitate cell growth. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as biliary tract cancers, intestinal cancer, and stomach cancer.

RNF43 is altered in 3.17% of all cancers with colorectal adenocarcinoma, breast carcinoma, pancreatic exocrine neoplasm, uterine corpus neoplasm, and non-small cell lung carcinoma having the greatest prevalence of alterations [3].

RNF43 GENIE Cases - Top Diseases

The most common alterations in RNF43 are RNF43 Mutation (1.84%), RNF43 Mutation (somatic) (1.84%), RNF43 G659Vfs*41 (0.50%), RNF43 Amplification (0.41%), and RNF43 Loss (0.03%) [3].

RNF43 GENIE Cases - Top Alterations

Significance of RNF43 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Pancreatic Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Pancreatic Adenocarcinoma +

Ovarian Carcinoma +

Cervical Squamous Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Prostate Carcinoma +

Glioblastoma +

Thyroid Gland Carcinoma +

Head And Neck Carcinoma +

Renal Cell Carcinoma +

Hepatocellular Carcinoma +

Cancer +

Esophageal Squamous Cell Carcinoma +

Peritoneal Mesothelioma +

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.