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LOC114827811 eDlx#8 enhancer in SHFM1 region [ Homo sapiens (human) ]

Gene ID: 114827811, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114827811
Gene description
eDlx#8 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 genomic sequence, which is located in the split-hand/split-foot malformation 1 (SHFM1) region on chromosome 7, represents an enhancer element. It can activate a minimal E1b promoter in somatic muscle 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 LOC114827811 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 (96833684..96834179)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (98069409..98069904)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96462996..96463491)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SEM1 26S proteasome subunit Neighboring gene uncharacterized LOC107986825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96214245-96214746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96214747-96215246 Neighboring gene eDlx#16 enhancer in SHFM1 region Neighboring gene eDlx#14 enhancer in SHFM1 region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96286728-96287228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96287229-96287729 Neighboring gene Sharpr-MPRA regulatory region 6945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26298 Neighboring gene uncharacterized LOC105375414 Neighboring gene Sharpr-MPRA regulatory region 10792 Neighboring gene MARK2 pseudogene 10 Neighboring gene 5K-Del enhancer in SHFM1 region Neighboring gene RNA, 7SL, cytoplasmic 252, pseudogene

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)

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_065160.1 

    Range
    101..596
    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
    96833684..96834179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    98069409..98069904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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