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LOC132090573 Neanderthal introgressed variant-containing enhancer experimental_60089 [ Homo sapiens (human) ]

Gene ID: 132090573, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090573
Gene description
Neanderthal introgressed variant-containing enhancer experimental_60089
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 both the introgressed and non-introgressed 20:31465450 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090573 in Genome Data Viewer
Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32877559..32877728)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34604239..34604408)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (31465365..31465534)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31408139-31408808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31408809-31409478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31420386-31420886 Neighboring gene microtubule associated protein RP/EB family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31428835-31429334 Neighboring gene uncharacterized LOC119746555 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31446596-31447408 Neighboring gene EF-hand calcium binding domain 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31462588-31463558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31463559-31464528 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:31467763-31467940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31474801-31475642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31479663-31480402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31480940-31481452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481453-31481964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31481965-31482476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:31482477-31482988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31494551-31495051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31505783-31506299 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:31538047-31538855 Neighboring gene uncharacterized LOC124904887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31557307-31558259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31558260-31559211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31559855-31560362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:31560363-31560871 Neighboring gene VISTA enhancer hs2101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31588518-31589018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:31589019-31589519 Neighboring gene Sad1 and UNC84 domain containing 5

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_231131.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    32877559..32877728
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    34604239..34604408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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