Location [1]
Protein [2]
Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
Synonyms [1]

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 3.13% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

NSD1 GENIE Cases - Top Diseases

The most common alterations in NSD1 are NSD1 Mutation (2.66%), NSD1 Amplification (0.20%), NSD1 Loss (0.05%), NSD1 R1031* (0.02%), and NSD1 P493L (0.07%) [3].

NSD1 GENIE Cases - Top Alterations

Significance of NSD1 in Diseases

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Melanoma +

Bladder Carcinoma +

Head And Neck Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Breast Carcinoma +

Ovarian Carcinoma +

Anaplastic Astrocytoma +

Sarcoma +

Pancreatic Carcinoma +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Undifferentiated Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myeloid Sarcoma +


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.