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LOC132088961 Neanderthal introgressed variant-containing enhancer experimental_69731 [ Homo sapiens (human) ]

Gene ID: 132088961, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132088961
Gene description
Neanderthal introgressed variant-containing enhancer experimental_69731
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 introgressed 3:32177667 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132088961 in Genome Data Viewer
Location:
chromosome: 3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32136090..32136259)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32133169..32133338)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32177582..32177751)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 10 Neighboring gene small nucleolar RNA SNORA25 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:32139776-32139875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14165 Neighboring gene NIFK pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:32189275-32189888 Neighboring gene glycerol-3-phosphate dehydrogenase 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32210835-32211492 Neighboring gene small nucleolar RNA U13 Neighboring gene ribosomal protein L21 pseudogene 137

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_229520.1 

    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    32136090..32136259
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    32133169..32133338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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