Our NUP98 break apart is designed to detect NUP98 translocations. The probe comes labeled in green and orange, but can be customized to meet your needs. 

Gene Background: NUP98 encodes the major component protein of the nuclear pore complex that regulates the nucleocytoplasmic transport of proteins and mRNA. Since the discovery of the first NUP98 fusion with HOXA9 in AML, more than 30 NUP98 partners have been identified in several hematologic diseases, including AML, MDS, CML in blast crisis, ALL, and bilineage/biphenotypic leukemia. NUP98 fusion proteins have oncogenic properties, whereas NUP98 is a potential tumor suppressor and regulates the post-transcriptional expression of certain TP53 target genes.

Source: Lim H, et al. (2017) Annals lab med 37.3: 285-287.

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

Gene Summary

Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]

Gene Details

Gene Symbol: NUP98

Gene Name: Nucleoporin 98

Chromosome: CHR11: 3696239-3819022

Locus: 11p15.4

References

Rapid detection of chromosomal translocation and precise breakpoint characterization in acute myeloid leukemia by nanopore long-read sequencing

Detection of chromosomal translocations has proven crucial for diagnosis and management of acute myeloid leukemia (AML), a cancer known to harbor several distinct gene rearrangements that correlate with disease subtype. In this study, an AML patient was genetically profiled using both conventional karyotyping and next generation sequencing techniques. FISH was also used to detect NUP98 translocations using Empire Genomics’ NUP98 break-apart probe.