Overview

Location [1]
16q12.1
Protein [2]
Ubiquitin carboxyl-terminal hydrolase CYLD
Synonyms [1]
EAC, CYLDI, MFT1, CYLD1, MFT, USPL2, BRSS, CDMT, FTDALS8, SBS, TEM

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 1.55% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

CYLD GENIE Cases - Top Diseases

The most common alterations in CYLD are CYLD Mutation (1.27%), CYLD Loss (0.18%), CYLD Amplification (0.11%), CYLD N722fs (0.07%), and CYLD S371* (0.04%) [3].

CYLD GENIE Cases - Top Alterations

Significance of CYLD in Diseases

Head And Neck Carcinoma +

Melanoma +

Colorectal Carcinoma +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Anaplastic Astrocytoma +

Malignant Solid Tumor +

Ovarian Carcinoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Lymphoma +

Sarcoma +

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.