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LOC132089808 Neanderthal introgressed variant-containing enhancer experimental_14444 [ Homo sapiens (human) ]

Gene ID: 132089808, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089808
Gene description
Neanderthal introgressed variant-containing enhancer experimental_14444
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 10:66666498 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089808 in Genome Data Viewer
Location:
chromosome: 10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (64906655..64906824)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (65764576..65764745)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (66666413..66666582)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984239 Neighboring gene Sharpr-MPRA regulatory region 14987 Neighboring gene cytochrome P450 family 2 subfamily C member 61, pseudogene Neighboring gene MPRA-validated peak974 silencer Neighboring gene MPRA-validated peak975 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:66569879-66570556 Neighboring gene uncharacterized LOC105378336 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14285 Neighboring gene annexin A2 pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14356 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14377 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14431 Neighboring gene MPRA-validated peak978 silencer Neighboring gene long intergenic non-protein coding RNA 2671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14489 Neighboring gene uncharacterized LOC102724863 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14563 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14639 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14760 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14780 Neighboring gene NIMA-related kinase 4 pseudogene 3

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_230366.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    64906655..64906824
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    65764576..65764745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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