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LOC132090874 Neanderthal introgressed variant-containing enhancer experimental_37191 [ Homo sapiens (human) ]

Gene ID: 132090874, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090874
Gene description
Neanderthal introgressed variant-containing enhancer experimental_37191
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 introgressed 14:79660785 or rs12434839 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090874 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (79194357..79194526)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (73402758..73402927)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (79660700..79660869)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene neurexin 3 Neighboring gene uncharacterized LOC124903353 Neighboring gene uncharacterized LOC105370588 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79557624-79558323 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:79625382-79626581 Neighboring gene uncharacterized LOC124903352 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37197 Neighboring gene uncharacterized LOC105370586 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37233 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37268 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79800513-79801035 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37315 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79840048-79840650 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79840651-79841251 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79844122-79844915 Neighboring gene NANOG hESC enhancer GRCh37_chr14:79844983-79845538 Neighboring gene NANOG hESC enhancer GRCh37_chr14:79982121-79982761 Neighboring gene uncharacterized LOC124903354 Neighboring gene uncharacterized LOC105370583

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_37191

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_231433.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    79194357..79194526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    73402758..73402927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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