Overview

Location [1]
11p15.4
Protein [2]
Nuclear pore complex protein Nup96
Synonyms [1]
NUP196, ADIR2, NUP96

Nucleoporin 98kDa (NUP98) is a gene that encodes a nucleoporin protein that functions in nuclear transport - the export and import through the nuclear pore complex (NPC). The protein's specific function may be that of a nucleoporin docking protein. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

Significance of NUP98 in Diseases

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia +

Acute Undifferentiated Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Non-Hodgkin 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.