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LOC132090226 Neanderthal introgressed variant-containing enhancer experimental_34615 [ Homo sapiens (human) ]

Gene ID: 132090226, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090226
Gene description
Neanderthal introgressed variant-containing enhancer experimental_34615
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 14:59905815 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090226 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 (59439012..59439181)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53645920..53646089)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59905730..59905899)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5803 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59655908-59656667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8458 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34577 Neighboring gene peptidylprolyl isomerase A pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 14842 Neighboring gene dishevelled associated activator of morphogenesis 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8459 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59797736-59798544 Neighboring gene NANOG hESC enhancer GRCh37_chr14:59862330-59862839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene G protein-coupled receptor 135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8461 Neighboring gene uncharacterized LOC124903326 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein

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_230784.1 

    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
    59439012..59439181
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    53645920..53646089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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