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LOC132089191 Neanderthal introgressed variant-containing enhancer experimental_82529 [ Homo sapiens (human) ]

Gene ID: 132089191, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089191
Gene description
Neanderthal introgressed variant-containing enhancer experimental_82529
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 5:150870486 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089191 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (151490840..151491009)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (152029818..152029987)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150870401..150870570)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378234 Neighboring gene solute carrier family 36 member 1 Neighboring gene RUN domain containing 1 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150767117-150768055 Neighboring gene NANOG-H3K4me1 hESC enhancers GRCh37_chr5:150804400-150804900 and GRCh37_chr5:150804901-150805401 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:150816347-150816517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23457 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82502 Neighboring gene RNA, 5S ribosomal pseudogene 197 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:150875552-150876101 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150877439-150878100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82543 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82555 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82563 Neighboring gene FAT atypical cadherin 2 Neighboring gene microRNA 6499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150950930-150951442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150974668-150975189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150998970-150999648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150999649-151000325 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:151003759-151004958 Neighboring gene uncharacterized LOC105378231 Neighboring gene uncharacterized LOC124901116

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_229750.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    151490840..151491009
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    152029818..152029987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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