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    LOC132090546 Neanderthal introgressed variant-containing enhancer experimental_51179 [ Homo sapiens (human) ]

    Gene ID: 132090546, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC132090546
    Gene description
    Neanderthal introgressed variant-containing enhancer experimental_51179
    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 introgressed 19:33689756 variant allele. [provided by RefSeq, Sep 2023]
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    Genomic context

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    See LOC132090546 in Genome Data Viewer
    Location:
    chromosome: 19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (33198765..33198934)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35717402..35717571)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33689671..33689840)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 88 Neighboring gene uncharacterized LOC124904691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14440 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33666856-33667620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14443 Neighboring gene tRNA-Thr (anticodon AGT) 1-3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14444 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51187 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33698023-33698524 Neighboring gene LDL receptor related protein 3 Neighboring gene solute carrier family 7 member 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33723689-33723856 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33739547-33740048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33741253-33742136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33742137-33743019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33764565-33765125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33765149-33765716 Neighboring gene HNF1 motif-containing MPRA enhancer 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33769447-33770004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33777434-33778421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33782467-33783050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33784308-33785258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10495 Neighboring gene CCAAT enhancer binding protein alpha

    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_231104.1 

      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      33198765..33198934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      35717402..35717571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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