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LOC132089933 Neanderthal introgressed variant-containing enhancer experimental_21295 [ Homo sapiens (human) ]

Gene ID: 132089933, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089933
Gene description
Neanderthal introgressed variant-containing enhancer experimental_21295
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 11:35789156 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089933 in Genome Data Viewer
Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (35767522..35767691)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (35906287..35906456)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (35789071..35789240)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene peptidase domain containing associated with muscle regeneration 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3259 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:35639867-35640028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:35640328-35640962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:35640963-35641597 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:35650952-35652151 Neighboring gene NANOG hESC enhancer GRCh37_chr11:35676186-35676747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4625 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:35684511-35685011 Neighboring gene four-jointed box kinase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21277 Neighboring gene tripartite motif containing 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4627 Neighboring gene OCT4 hESC enhancer GRCh37_chr11:35774016-35774517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:35793100-35793607 Neighboring gene uncharacterized LOC124902661 Neighboring gene keratin 18 pseudogene 14

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_230491.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    35767522..35767691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    35906287..35906456
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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