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LOC132090793 Neanderthal introgressed variant-containing enhancer experimental_109845 [ Homo sapiens (human) ]

Gene ID: 132090793, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090793
Gene description
Neanderthal introgressed variant-containing enhancer experimental_109845
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 9:95704547 or rs80268057 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090793 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 (92942180..92942349)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105108858..105109027)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95704462..95704631)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95656905-95657405 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95667424-95668065 Neighboring gene sorting nexin 18 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95674721-95675222 Neighboring gene arachidonate 15-lipoxygenase pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95727421-95728052 Neighboring gene FYVE, RhoGEF and PH domain containing 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95732487-95733178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:95750216-95750914 Neighboring gene Sharpr-MPRA regulatory region 11306 Neighboring gene uncharacterized LOC101927954 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95777618-95777854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95784152-95785052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95786616-95787408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95787409-95788200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95791307-95791808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95791809-95792308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95797249-95798042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95798869-95799762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95811946-95812603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95821078-95822058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95822059-95823039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95824548-95825115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28611 Neighboring gene Sharpr-MPRA regulatory region 12079 Neighboring gene sushi domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95844809-95845437

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)

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_109845

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_231352.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    92942180..92942349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    105108858..105109027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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