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LOC107105350 NUP98-HOXC11 recombination region [ Homo sapiens (human) ]

Gene ID: 107105350, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107105350
Gene description
NUP98-HOXC11 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(11;12)(p15;q13) rearrangement, and can produce gene fusions involving the nucleoporin 98kDa (NUP98) gene and the homeobox C11 (HOXC11) gene. NUP98-HOXC11 chimeric transcripts have been observed in some individuals with acute myeloid leukemia (AML). Multiple NUP98-HOXC11 fusion transcripts have been described, differing in the HOXC11 cDNA sequence present in the chimeric transcript. These differences are thought to be the result of differences in the site of recombination, with exchanges occurring either within exonic or intronic regions within HOXC11. In one case, a small segment of NUP98 intronic sequence was also incorporated into NUP98-HOXC11 fusion transcript. This recombination region contains both exonic and intronic sub-regions, indicative of the different recombination exchange sites. [provided by RefSeq, Feb 2016]
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Genomic context

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Location:
12q13.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53973793..53975180)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53939285..53940672)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54367577..54368964)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HOXC13 antisense RNA Neighboring gene homeobox C13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54345326-54345913 Neighboring gene uncharacterized LOC105369775 Neighboring gene homeobox C12 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:54355207-54355431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54360165-54361069 Neighboring gene HOX transcript antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:54368136-54368730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6430 Neighboring gene homeobox C11 Neighboring gene HOXC11-HOXC10 intergenic CAGE-defined high expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:54379714-54380594 Neighboring gene HOXC cluster antisense RNA 3 Neighboring gene homeobox C10 Neighboring gene microRNA 196a-2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Acute monocytic leukaemia with t(11; 12) (p15; q13) chromosomal changes: A case report and literature review. Hu J, et al. Oncol Lett, 2015 Oct. PMID 26622840, Free PMC Article
  2. The prediction of transmembrane protein sequences and their conformation: an evaluation. Fasman GD, et al. Trends Biochem Sci, 1990 Mar. PMID 2183408
  3. Novel NUP98-HOXC11 fusion gene resulted from a chromosomal break within exon 1 of HOXC11 in acute myeloid leukemia with t(11;12)(p15;q13). Taketani T, et al. Cancer Res, 2002 Aug 15. PMID 12183408
  4. De novo AML with trilineage myelodysplasia and a novel t(11;12)(p15;q13). Wong KF, et al. Cancer Genet Cytogenet, 1998 Jan 1. PMID 9406580
  5. Major form of NUP98/HOXC11 fusion in adult AML with t(11;12)(p15;q13) translocation exhibits aberrant trans-regulatory activity. Gu BW, et al. Leukemia, 2003 Sep. PMID 12970787

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

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(11;12)(p15;q13) HOXC11 recombination region
  • t(11;12)(p15;q13) homeobox C11 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.

Genomic

  1. NG_046609.1 

    Range
    101..1488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    53973793..53975180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53939285..53940672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
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