LOC107133509 NUP98-NSD3 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107133509
Gene description: NUP98-NSD3 recombination region
Gene type: biological region
Feature type(s): misc_recomb: mitotic
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region is known to undergo somatic cell DNA recombination with another region, the nucleoporin 98kDa (NUP98) recombination region, located on the p arm of chromosome 11. This region is located within an intron of the Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1, also known as NSD3) gene. Recombination between these two regions results in a translocation known as the t(8;11)(p11.2;p15) rearrangement, and can produce in-frame fusion transcripts involving the nucleoporin 98kDa (NUP98) gene and WHSC1L1 gene. Multiple fusion transcripts, all with the NUP98(exon 11)-NSD3(exon 5) chimeric junction have been identified, with differences arising as a result of alternative splicing in the 3' coding region of WHSC1L1. The reciprocal NSD3(exon4)-NUP98(exon12) chimeric junction has also been observed. The chimeric transcripts have been observed in individuals with acute myeloid leukemia (AML) and one with myelodysplastic syndrome (MDS). [provided by RefSeq, Feb 2016]
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Genomic context

Location:: 8p11.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38331586..38347431)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38608541..38624387)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38189104..38204949)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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Other Names

NUP98-WHSC1L1 recombination region
t(8;11)(p11.2;p15) NSD3 recombination region
t(8;11)(p11.2;p15) WHSC1L1 recombination region
t(8;11)(p11.2;p15) Wolf-Hirschhorn syndrome candidate 1-like 1 recombination region
t(8;11)(p11.2;p15) nuclear receptor binding SET domain protein 3 recombination region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.