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LOC132089578 Neanderthal introgressed variant-containing enhancer experimental_102128 [ Homo sapiens (human) ]

Gene ID: 132089578, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132089578
Gene description
Neanderthal introgressed variant-containing enhancer experimental_102128
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 8:14208928 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089578 in Genome Data Viewer
Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (14351334..14351503)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (14617271..14617440)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene sarcoglycan zeta Neighboring gene RNA, U7 small nuclear 153 pseudogene Neighboring gene eukaryotic translation initiation factor 4E pseudogene 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102220 Neighboring gene Sharpr-MPRA regulatory region 1875 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:14345650-14346402 Neighboring gene RNA, U6 small nuclear 397, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr8:14422792-14423293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530452-14530953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530954-14531454 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660111-14660843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660844-14661575 Neighboring gene microRNA 383

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_230137.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    14351334..14351503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    14617271..14617440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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