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LOC132089603 Neanderthal introgressed variant-containing enhancer experimental_103459 [ Homo sapiens (human) ]

Gene ID: 132089603, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089603
Gene description
Neanderthal introgressed variant-containing enhancer experimental_103459
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 non-introgressed 8:5968831 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089603 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 (6111224..6111393)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (5864548..5864717)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (5968746..5968915)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377796 Neighboring gene uncharacterized LOC105377797 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6170563-6171762 Neighboring gene NANOG hESC enhancer GRCh37_chr8:6189146-6189652 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:6247558-6248757 Neighboring gene MPRA-validated peak6892 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26946 Neighboring gene Sharpr-MPRA regulatory region 14576 Neighboring gene MCPH1 divergent transcript Neighboring gene microcephalin 1 Neighboring gene adenylate kinase isoenzyme 6-like

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_230162.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    6111224..6111393
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791785.1 Reference GRCh38.p14 PATCHES

    Range
    46554..46723
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    5864548..5864717
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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