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LOC132089146 Neanderthal introgressed variant-containing enhancer experimental_79852 [ Homo sapiens (human) ]

Gene ID: 132089146, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089146
Gene description
Neanderthal introgressed variant-containing enhancer experimental_79852
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 4:38635358 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089146 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (38633652..38633821)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (38602725..38602894)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38635273..38635442)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1258 Neighboring gene long intergenic non-protein coding RNA 1259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21439 Neighboring gene long intergenic non-protein coding RNA 2278 Neighboring gene KLF3-I enhancer Neighboring gene KLF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:38623749-38624601 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79844 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79860 Neighboring gene KLF3-II enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15359 Neighboring gene KLF3 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:38668044-38668894 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:38668895-38669744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:38671391-38671960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:38674239-38674808 Neighboring gene KLF3-IIII enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15363 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79886 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79904 Neighboring gene KLF transcription factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21441 Neighboring gene uncharacterized LOC105374413

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_229705.1 

    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
    38633652..38633821
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    38602725..38602894
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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