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LOC110121295 eDlx#19 enhancer in SHFM1 region [ Homo sapiens (human) ]

Gene ID: 110121295, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110121295
Gene description
eDlx#19 enhancer in SHFM1 region
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 locus, which is located in the split-hand/split-foot malformation 1 (SHFM1) region on chromosome 7, represents a conserved genomic element that can function as an enhancer. It can activate a minimal Hsp68 promoter coupled to a reporter gene in branchial arch of transgenic mice, or a minimal E1b promoter in branchial arch and pectoral fin of transgenic zebrafish. This enhancer is removed in some deletions associated with limb malformations, hearing loss and craniofacial defects. [provided by RefSeq, May 2019]
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Genomic context

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See LOC110121295 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (96446093..96446679)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (97681734..97682320)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96075405..96075991)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375410 Neighboring gene uncharacterized LOC124901702 Neighboring gene RNA, U7 small nuclear 188 pseudogene Neighboring gene uncharacterized LOC105375411 Neighboring gene eDlx#18 enhancer in SHFM1 region Neighboring gene uncharacterized LOC105375412 Neighboring gene SEM1 26S proteasome subunit

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. Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. van Silfhout AT, et al. Eur J Hum Genet, 2009 Nov. PMID 19401716, 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. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. Kouwenhoven EN, et al. PLoS Genet, 2010 Aug 19. PMID 20808887, 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 hs2312

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_053910.1 

    Range
    101..687
    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
    96446093..96446679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    97681734..97682320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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