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LOC110121292 eExon 15 DLX5/6 limb enhancer [ Homo sapiens (human) ]

Gene ID: 110121292, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121292
Gene description
eExon 15 DLX5/6 limb enhancer
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region represents a conserved exonic enhancer corresponding to a 3' exon (eExon 15) of the DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1) gene. It can activate a Hsp68 promoter coupled to a reporter gene in apical ectodermal ridge, limb bud mesenchyme and the genital tubercle of transgenic mice, and also an E1b promoter in pectoral fin, caudal fin and somatic muscle of transgenic zebrafish. This eExon is thought to be a tissue-specific limb enhancer of the DLX5 and DLX6 (distal-less homeobox 5 and 6) genes located over 900 kb telomeric on chromosome 7q21.3. Looping interactions have been observed between this eExon and the Dlx5/6 promoters in the mouse ortholog. Human chromosomal deletions that remove this eExon together with the nearby DYNC1I1 eExon 17 limb enhancer are associated with split-hand/split-foot malformation (SHFM), suggesting that these eExons are critical for normal limb development. [provided by RefSeq, Apr 2019]
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Genomic context

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Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (96075777..96076384)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (97311644..97312251)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95705089..95705696)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 1 intermediate chain 1 Neighboring gene uncharacterized LOC124901700 Neighboring gene uncharacterized LOC124901701 Neighboring gene eDlx#24 enhancer in SHFM1 region Neighboring gene eExon 17 DLX5/6 limb enhancer Neighboring gene eDlx#23 enhancer in SHFM1 region Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:95772367-95773202 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:95773203-95774037 Neighboring gene solute carrier family 25 member 13 Neighboring gene CYCS pseudogene 18 Neighboring gene microRNA 591

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. Coding exons function as tissue-specific enhancers of nearby genes. Birnbaum RY, et al. Genome Res, 2012 Jun. PMID 22442009, Free PMC Article
  2. Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Tayebi N, et al. Orphanet J Rare Dis, 2014 Jul 29. PMID 25231166, Free PMC Article
  3. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Ahituv N. Genome Med, 2016 Feb 8. PMID 26856702, Free PMC Article
  4. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. Lango Allen H, et al. J Med Genet, 2014 Apr. PMID 24459211, Free PMC Article
  5. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Birnbaum RY, et al. Hum Mol Genet, 2012 Nov 15. PMID 22914741, Free PMC Article

See all (6) 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

  • VISTA enhancer hs2308
  • enhancer exon 15 of DYNC1I1

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_053907.1 

    Range
    101..708
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    96075777..96076384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    97311644..97312251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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