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LOC132090816 Neanderthal introgressed variant-containing enhancer experimental_15668 [ Homo sapiens (human) ]

Gene ID: 132090816, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090816
Gene description
Neanderthal introgressed variant-containing enhancer experimental_15668
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for the non-introgressed 10:69126424 or rs9787459 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090816 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 (67366581..67366750)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (68234899..68235068)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (69126339..69126508)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene catenin alpha 3 Neighboring gene uncharacterized LOC101928961 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:68685181-68686037 Neighboring gene leucine rich repeat transmembrane neuronal 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:68990147-68990732 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:68990733-68991316 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15618 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15623 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15629 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:69087266-69087766 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15678 Neighboring gene ribosomal protein L7a pseudogene 51 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15830 Neighboring gene microRNA 7151 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15959 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_15994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3449 Neighboring gene aldo-keto reductase family 1 member B10 pseudogene 1

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)

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_15668

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_231375.1 

    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
    67366581..67366750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    68234899..68235068
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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