Overview

Location [1]
22q11.21
Protein [2]
Clathrin heavy chain 2
Synonyms [1]
CLTD, CLH22, CHC22, CLTCL

Clathrin, heavy chain-like 1 (CLTCL1) is a gene that encodes a protein that is a component of the polyhedral coat of coated pits and vesicles. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

CLTCL1 is altered in 0.17% of all cancers with lung adenocarcinoma, pancreatic adenocarcinoma, colon adenocarcinoma, acute myeloid leukemia, and anaplastic meningioma having the greatest prevalence of alterations [3].

CLTCL1 GENIE Cases - Top Diseases

The most common alterations in CLTCL1 are CLTCL1-ALK Fusion (0.08%), CLTCL1 A238V (0.30%), CLTCL1 E1009D (0.30%), CLTCL1 E1388* (0.30%), and CLTCL1 E1628Q (0.30%) [3].

CLTCL1 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.