LOC107126288 NUP98-HOXA13 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107126288
Gene description: NUP98-HOXA13 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 in-frame gene fusions involving the nucleoporin 98kDa (NUP98) gene and the homeobox A13 (HOXA13) gene. NUP98-HOXA13 fusion transcripts have been observed in some individuals with chronic myeloid leukemia (CML), acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS). Multiple NUP98-HOXA13 fusion transcripts have been described, differing in the NUP98 exon combination present. These differences are thought to be the result of differences in the site of recombination. [provided by RefSeq, Mar 2017]
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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 (27198443..27202743)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (27334449..27338730)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (27238062..27242362)

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

t(7;11)(p15;p15) HOXA13 recombination region
t(7;11)(p15;p15) homeobox A13 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.