Overview

Location [1]
8p11.2
Synonyms [1]
NSD3, pp14328, WHISTLE

Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1) is a gene that encodes a protein with a function that is unclear. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

WHSC1L1 is altered in 4.49% of all cancers with breast invasive ductal carcinoma, invasive breast carcinoma, colon adenocarcinoma, lung adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

WHSC1L1 GENIE Cases - Top Diseases

The most common alterations in WHSC1L1 are WHSC1L1 Amplification (2.52%), WHSC1L1 Loss (0.35%), WHSC1L1 T1271M (0.02%), WHSC1L1 Fusion (0.06%), and WHSC1L1-NUTM1 Fusion (0.06%) [3].

WHSC1L1 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.