U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC110121293 eExon 17 DLX5/6 limb enhancer [ Homo sapiens (human) ]

Gene ID: 110121293, updated on 4-Mar-2025

Summary

Go to the top of the page Help
Gene symbol
LOC110121293
Gene description
eExon 17 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 17) of the DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1) gene. It can activate a Hsp68promoter coupled to a reporter gene in anterior limb bud mesenchyme of transgenic mice. 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. Human chromosomal deletions that remove this eExon together with the nearby DYNC1I1 eExon 15 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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC110121293 in Genome Data Viewer
Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (96096967..96098368)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (97332838..97334239)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95726279..95727680)

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 15 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • VISTA enhancer hs2309
  • enhancer exon 17 of DYNC1I1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_053908.1 

    Range
    101..1502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    96096967..96098368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    97332838..97334239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases