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LOC132089260 Neanderthal introgressed variant-containing enhancer experimental_85394 [ Homo sapiens (human) ]

Gene ID: 132089260, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089260
Gene description
Neanderthal introgressed variant-containing enhancer experimental_85394
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 5:43706354 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089260 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43706167..43706336)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43959800..43959969)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43706269..43706438)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85301 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:43602630-43602849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15997 Neighboring gene NNT antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 11344 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85370 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85375 Neighboring gene nicotinamide nucleotide transhydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43708151-43708652 Neighboring gene ribosomal protein L29 pseudogene 12 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:43717701-43718325 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43745853-43746524 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85421 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85427 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85485 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85525 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85570 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85621 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85633 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85647 Neighboring gene RNA, U6 small nuclear 381, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85853 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85873 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:44236336-44236856 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:44262669-44262835 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:44328940-44329154 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85945 Neighboring gene fibroblast growth factor 10 Neighboring gene VISTA enhancer hs516 Neighboring gene FGF10 intronic enhancer Neighboring gene FGF10 antisense RNA 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)

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_229819.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    43706167..43706336
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    43959800..43959969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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