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LOC132089089 Neanderthal introgressed variant-containing enhancer experimental_76181 [ Homo sapiens (human) ]

Gene ID: 132089089, updated on 27-Aug-2024

Summary

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Gene symbol
LOC132089089
Gene description
Neanderthal introgressed variant-containing enhancer experimental_76181
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 4:169475517 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (168554281..168554450)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (171913243..171913412)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene DExD/H-box 60 like Neighboring gene small nucleolar RNA SNORA51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22125 Neighboring gene uncharacterized LOC107986198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:169408038-169409237 Neighboring gene uncharacterized LOC124900807 Neighboring gene palladin, cytoskeletal associated protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76192 Neighboring gene basic transcription factor 3 like 4 pseudogene 4 Neighboring gene PALLD antisense RNA 1

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_229648.1 

    Range
    101..270
    Download
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    168554281..168554450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    171913243..171913412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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