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LOC132090334 Neanderthal introgressed variant-containing enhancer experimental_41344 [ Homo sapiens (human) ]

Gene ID: 132090334, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090334
Gene description
Neanderthal introgressed variant-containing enhancer experimental_41344
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 15:80300560 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090334 in Genome Data Viewer
Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80008133..80008302)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (77871538..77871707)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80300475..80300644)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9937 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:80262962-80264161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9940 Neighboring gene BCL2 related protein A1 Neighboring gene ribonucleotide reductase regulatory subunit M2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80293949-80294721 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:80295257-80296456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9942 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:80320394-80320775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80324347-80325092 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80325093-80325836 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80325837-80326580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80332051-80332550 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:80351696-80352024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9943 Neighboring gene zinc finger AN1-type containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80404705-80405431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6731 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:80452567-80453210 and GRCh37_chr15:80453211-80453853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80460174-80460674 Neighboring gene fumarylacetoacetate hydrolase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80478509-80479009

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 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_230892.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    80008133..80008302
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    77871538..77871707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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