Overview

Location [1]
5q35.3
Protein [2]
Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
Synonyms [1]
SOTOS1, KMT3B, ARA267, SOTOS, STO

Nuclear receptor binding SET domain protein 1 (NSD1) is a gene that encodes a protein that functions in the enhancement of androgen receptor transactivation. The protein may also be a nucleus-localized, basic transcriptional factor and bi-functional transcriptional regulator. 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 stomach cancer.

NSD1 is altered in 2.58% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

NSD1 GENIE Cases - Top Diseases

The most common alterations in NSD1 are NSD1 Mutation (2.17%), NSD1 Amplification (0.14%), NSD1 M1531Cfs*43 (0.04%), NSD1 Loss (0.02%), and NSD1 R1031* (0.02%) [3].

NSD1 GENIE Cases - Top Alterations

Significance of NSD1 in Diseases

Melanoma +

Bladder Carcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Glioblastoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Anaplastic Astrocytoma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia +

Acute Undifferentiated Leukemia +

Chronic Myeloid Leukemia +

Head And Neck Carcinoma +

Hodgkin Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/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.