LOC107197952 NUP98-HOXA9 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107197952
Gene description: NUP98-HOXA9 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. Recombination between these two regions results in a translocation known as the t(7;11)(p15;p15) rearrangement, and can produce gene fusions involving the nucleoporin 98kDa (NUP98) gene and the homeobox A9 (HOXA9) gene. NUP98-HOXA9 chimeric transcripts have been observed in some individuals with acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), chronic myeloid leukemia (CML), and chronic myelomonocytic leukemia (CMML). Multiple NUP98-HOXA9 fusion transcripts have been described, differing in the NUP98 and HOXA9 exon combinations present in the chimeric transcript. These differences are thought to be the result of alternative splicing. [provided by RefSeq, Feb 2016]
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Genomic context

Location:: 7p15.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (27163062..27169241)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27299057..27305250)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27202681..27208860)

Chromosome 7 - NC_000007.14 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

What's a GeneRIF?

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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

t(7;11)(p15;p15) HOXA9 recombination region
t(7;11)(p15;p15) homeobox A9 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.