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LOC132090646 Neanderthal introgressed variant-containing enhancer experimental_63206 [ Homo sapiens (human) ]

Gene ID: 132090646, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090646
Gene description
Neanderthal introgressed variant-containing enhancer experimental_63206
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 22:27722249 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090646 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (27326203..27326372)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (27787163..27787332)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27706583-27707357 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27707358-27708131 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:27710082-27710283 Neighboring gene long intergenic non-protein coding RNA 2554 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63191 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63195 Neighboring gene uncharacterized LOC105372979 Neighboring gene Sharpr-MPRA regulatory region 9271 Neighboring gene uncharacterized LOC102724900 Neighboring gene NANOG hESC enhancer GRCh37_chr22:27754348-27754896 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:27769315-27769815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:27803625-27804177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27828998-27829600 Neighboring gene uncharacterized LOC105372980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:27833795-27834458

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_231204.1 

    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
    27326203..27326372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    27787163..27787332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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