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    LOC132089745 Neanderthal introgressed variant-containing enhancer experimental_10320 [ Homo sapiens (human) ]

    Gene ID: 132089745, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC132089745
    Gene description
    Neanderthal introgressed variant-containing enhancer experimental_10320
    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 contains a Neanderthal adaptively introgressed genetic variant, and was validated as an enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for the non-introgressed 10:121681422 variant allele. [provided by RefSeq, Sep 2023]
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    Genomic context

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    See LOC132089745 in Genome Data Viewer
    Location:
    chromosome: 10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119921825..119921994)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120819353..120819521)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121681337..121681506)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate-5-phosphatase F Neighboring gene uncharacterized LOC105378513 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121575109-121575271 Neighboring gene phosphatase and actin regulator 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121610009-121610508 Neighboring gene minichromosome maintenance complex binding protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4133 Neighboring gene NANOG hESC enhancer GRCh37_chr10:121648618-121649156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121650957-121651468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121651469-121651979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121651980-121652490 Neighboring gene SEC23 interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10351 Neighboring gene microRNA 4682 Neighboring gene NACA pseudogene 2

    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. Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. Jagoda E, et al. Mol Biol Evol, 2022 Jan 7. PMID 34662402, 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_230303.1 

      Range
      101..270
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      119921825..119921994
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      120819353..120819521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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