Overview

Location [1]
16q12.1
Protein [2]
Ubiquitin carboxyl-terminal hydrolase CYLD
Synonyms [1]
TEM, USPL2, BRSS, EAC, CDMT, MFT, CYLD1, CYLDI, MFT1, SBS

Cylindromatosis (turban tumor syndrome) (CYLD) is a gene that encodes a protein that functions as a deubiquitinating enzyme. Missense mutations, silent mutations, nonsense mutations, frameshift deletions, and frameshift insertions are observed in cancers such as skin cancer, colon cancer, and endometrial cancer.

CYLD is altered in 1.37% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, oropharyngeal squamous cell carcinoma, and squamous cell lung carcinoma having the greatest prevalence of alterations [3].

CYLD GENIE Cases - Top Diseases

The most common alterations in CYLD are CYLD Mutation (1.02%), CYLD Loss (0.11%), CYLD Amplification (0.06%), CYLD N722Mfs*13 (0.03%), and CYLD S371* (0.03%) [3].

CYLD GENIE Cases - Top Alterations

Significance of CYLD in Diseases

Melanoma +

Colorectal Carcinoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Glioblastoma +

Malignant Solid Tumor +

Ovarian Carcinoma +

Breast Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Lymphoma +

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 6. 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.