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    LOC108004529 control region 19 heart enhancer [ Homo sapiens (human) ]

    Gene ID: 108004529, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC108004529
    Gene description
    control region 19 heart 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 overlaps the 3' terminal exon of the MLLT6 (myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6) gene. It was shown to function as a heart enhancer in zebrafish in vivo reporter assays. [provided by RefSeq, Jun 2016]
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    Genomic context

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    See LOC108004529 in Genome Data Viewer
    Location:
    17q21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38728738..38728960)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39591823..39592045)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36884991..36885213)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MLLT6, PHD finger containing Neighboring gene uncharacterized LOC124903993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36872979-36873638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36873639-36874298 Neighboring gene uncharacterized LOC105371762 Neighboring gene microRNA 4726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36881911-36882602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36887390-36887927 Neighboring gene RNA, 5S ribosomal pseudogene 440 Neighboring gene CDGSH iron sulfur domain 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36891176-36891703 Neighboring gene polycomb group ring finger 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36898365-36899265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36901628-36902393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36902394-36903158 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36904187-36904722 Neighboring gene uncharacterized LOC100287808

    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. Genome-wide discovery of human heart enhancers. Narlikar L, et al. Genome Res, 2010 Mar. PMID 20075146, Free PMC Article

    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_050854.1 

      Range
      101..323
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      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38728738..38728960
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2764057..2764279
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39591823..39592045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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