Overview

GLI1 family zinc finger 1 (GLI1) is a gene that encodes a protein that functions as a transcription factor protein. The protein is activated by the sonic hedgehog signal transduction pathway. The protein also plays a role in the regulation of stem cell proliferation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

GLI1 is altered in 3.27% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, malignant glioma, melanoma, and sarcoma having the greatest prevalence of alterations [3].

The most common alterations in GLI1 are GLI1 Mutation (2.34%), GLI1 Amplification (0.63%), GLI1 G274Afs*6 (0.16%), GLI1 Loss (0.02%), and GLI1 R380Q (0.02%) [3].

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.