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LOC107133517 NUP98-IQCG recombination region [ Homo sapiens (human) ]

Gene ID: 107133517, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107133517
Gene description
NUP98-IQCG 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 IQ motif containing G (IQCG) gene. Recombination between these two regions results in a t(3;11) translocation, and can produce in-frame fusion transcripts involving NUP98 and IQCG. The fusion NUP98(exon 13)-IQCG(exon 10) transcript and NUP98(exon 13)-IQCG-V transcript, which contains sequences intronic to IQCG, have been observed in an individual with acute T-lymphoid/myeloid leukemia. The two different fusion transcripts are thought to arise from alternative splicing. The exonic numbering of the fusion transcripts is based on that described in Pan et al., 2008 (PMID:18084320). While the fusion transcript promoted the survival and growth of early myeloid progenitors when transformed into mouse cells, it may not be sufficient to induce leukemia by itself. [provided by RefSeq, Jan 2016]
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Genomic context

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See LOC107133517 in Genome Data Viewer
Location:
3q29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (197898047..197898053)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (200630506..200630512)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (197624918..197624924)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and calponin homology domain containing 3 Neighboring gene uncharacterized LOC105374310 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:197581553-197582752 Neighboring gene ribosomal protein L17 pseudogene 18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197594026-197594561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197626412-197627184 Neighboring gene RNA, U6 small nuclear 858, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:197628168-197628668 Neighboring gene uncharacterized LOC124906330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15094 Neighboring gene IQ motif containing G Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:197639502-197640701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197676763-197677545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197678329-197679110 Neighboring gene ribosomal protein L35a

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. The role of Nup98 in transcription regulation in healthy and diseased cells. Franks TM, et al. Trends Cell Biol, 2013 Mar. PMID 23246429, Free PMC Article
  2. A new fusion gene NUP98-IQCG identified in an acute T-lymphoid/myeloid leukemia with a t(3;11)(q29q13;p15)del(3)(q29) translocation. Pan Q, et al. Oncogene, 2008 May 29. PMID 18084320
  3. Nucleoporins and nucleocytoplasmic transport in hematologic malignancies. Takeda A, et al. Semin Cancer Biol, 2014 Aug. PMID 24657637
  4. The role of NUP98 gene fusions in hematologic malignancy. Slape C, et al. Leuk Lymphoma, 2004 Jul. PMID 15359631
  5. NUP98 gene fusions in hematologic malignancies. Lam DH, et al. Leukemia, 2001 Nov. PMID 11681408

See all (7) 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(3;11) IQ motif containing G recombination region
  • t(3;11) IQCG 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_046676.1 

    Range
    101..107
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    197898047..197898053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    200630506..200630512
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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