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LOC132089561 Neanderthal introgressed variant-containing enhancer experimental_101305 [ Homo sapiens (human) ]

Gene ID: 132089561, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132089561
Gene description
Neanderthal introgressed variant-containing enhancer experimental_101305
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 8:13725587 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089561 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 (13867993..13868162)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (14134376..14134545)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 654 pseudogene Neighboring gene uncharacterized LOC105379292 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:13709429-13710101 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101359 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101439 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101469 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101507 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_101563 and experimental_101568 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101611 Neighboring gene structural maintenance of chromosomes 5 pseudogene

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_230120.1 

    Range
    101..270
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    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
    13867993..13868162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    14134376..14134545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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