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LOC132089625 Neanderthal introgressed variant-containing enhancer experimental_104554 [ Homo sapiens (human) ]

Gene ID: 132089625, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089625
Gene description
Neanderthal introgressed variant-containing enhancer experimental_104554
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 9:112592744 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089625 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (109830379..109830548)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121999868..122000037)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (112592659..112592828)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase non-receptor type 3 Neighboring gene Y-box binding protein 1 pseudogene 6 Neighboring gene PALM2 and AKAP2 fusion Neighboring gene Sharpr-MPRA regulatory region 9563 Neighboring gene NANOG hESC enhancer GRCh37_chr9:112483239-112483742 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104485 Neighboring gene putative uncharacterized protein DDB_G0287265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104519 Neighboring gene Sharpr-MPRA regulatory region 11524 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:112578478-112579677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28781 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104594 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:112767573-112768074 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104606 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112809348-112809922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112810496-112811069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20171 Neighboring gene ribosomal protein L21 pseudogene 87 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:112831420-112832619 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104629 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:112868296-112868903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112887224-112887786 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:112893707-112894550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28782 Neighboring gene uncharacterized LOC124902244

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_230184.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    109830379..109830548
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    121999868..122000037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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