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    LOC132090723 Neanderthal introgressed variant-containing enhancer experimental_86841/86842 [ Homo sapiens (human) ]

    Gene ID: 132090723, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC132090723
    Gene description
    Neanderthal introgressed variant-containing enhancer experimental_86841/86842
    Gene type
    biological region
    Feature type(s)
    regulatory: enhancer, transcriptional_cis_regulatory_region
    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 expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 5:684888 or rs55660354 variant alleles. [provided by RefSeq, Sep 2023]
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    Genomic context

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    See LOC132090723 in Genome Data Viewer
    Location:
    chromosome: 5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (684688..684857)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (682787..682955)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (684803..684972)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:602876-603376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:603377-603877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:611378-612308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:612309-613238 Neighboring gene CEP72 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890 Neighboring gene centrosomal protein 72 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643172-643672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643673-644173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86745 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86749/86750 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86779 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:669166-669920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86803 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:673521-674090 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86819 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86831 Neighboring gene tubulin polymerization promoting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:686929-687430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:692893-693475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15876 Neighboring gene uncharacterized LOC101929898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:694389-695267 Neighboring gene NANOG hESC enhancer GRCh37_chr5:708729-709282 Neighboring gene zinc finger DHHC-type containing 11B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:727349-727849 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:752062-752252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:753615-754114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:758511-759354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:759355-760198 Neighboring gene bromodomain containing 9 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)

    General gene information

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    Other Names

    • emVar-containing allelic enhancer experimental_86841/86842

    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_231282.1 

      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      684688..684857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      682787..682955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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