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LOC132089570 Neanderthal introgressed variant-containing enhancer experimental_101766 [ Homo sapiens (human) ]

Gene ID: 132089570, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089570
Gene description
Neanderthal introgressed variant-containing enhancer experimental_101766
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 8:13979844 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089570 in Genome Data Viewer
Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (14122250..14122419)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (14388222..14388391)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (13979759..13979928)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene structural maintenance of chromosomes 5 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101653 Neighboring gene uncharacterized LOC124902058 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101789 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101818 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101878 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101891 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101912 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101932 Neighboring gene sarcoglycan zeta Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_102032 and experimental_102034 Neighboring gene RNA, U7 small nuclear 153 pseudogene Neighboring gene eukaryotic translation initiation factor 4E pseudogene 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_230129.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    14122250..14122419
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    14388222..14388391
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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