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LOC132090638 Neanderthal introgressed variant-containing enhancer experimental_62844 [ Homo sapiens (human) ]

Gene ID: 132090638, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090638
Gene description
Neanderthal introgressed variant-containing enhancer experimental_62844
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 22:20926813 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20572441..20572610)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20981085..20981254)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 22 Neighboring gene keratin 18 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13496 Neighboring gene uncharacterized LOC101928824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20850596-20851248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20859501-20860000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18680 Neighboring gene mediator complex subunit 15 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20884447-20885434 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20903520-20904510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18681 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62813 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18682 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62834 Neighboring gene uncharacterized LOC124905084 Neighboring gene coiled-coil domain containing 74B pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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

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_231196.1 

    Range
    101..270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    20572441..20572610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20981085..20981254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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