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    LOC132090656 Neanderthal introgressed variant-containing enhancer experimental_63615 [ Homo sapiens (human) ]

    Gene ID: 132090656, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC132090656
    Gene description
    Neanderthal introgressed variant-containing enhancer experimental_63615
    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 22:49503392 variant allele. [provided by RefSeq, Sep 2023]
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    Genomic context

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    See LOC132090656 in Genome Data Viewer
    Location:
    chromosome: 22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (49107583..49107752)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (49611918..49612087)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (49503307..49503476)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr22:49444419-49444575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49472572-49473132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49473133-49473691 Neighboring gene neuronal hypoxia inducible, placenta associated Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:49479476-49480675 Neighboring gene uncharacterized LOC105373086 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:49492353-49492524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49492933-49493434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49493435-49493934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49494904-49495901 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49546439-49546996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49548111-49548668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49576267-49576766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49579645-49580415 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:49583849-49585048 Neighboring gene MPRA-validated peak4516 silencer Neighboring gene ribosomal protein L35 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49637011-49637512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49637513-49638012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49656771-49657286 Neighboring gene NANOG hESC enhancer GRCh37_chr22:49665229-49665768 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:49678386-49679585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49686488-49687074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49687075-49687660 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49697353-49697914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49700204-49700897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49746095-49746659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49768106-49769047 Neighboring gene uncharacterized LOC124905143

    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_231214.1 

      Range
      101..270
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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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      49107583..49107752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      49611918..49612087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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