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LOC132090909 Neanderthal introgressed variant-containing enhancer experimental_51216 [ Homo sapiens (human) ]

Gene ID: 132090909, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090909
Gene description
Neanderthal introgressed variant-containing enhancer experimental_51216
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 19:33725078 or rs1559182 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090909 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (33234087..33234256)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35752825..35752994)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33724993..33725162)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14443 Neighboring gene tRNA-Thr (anticodon AGT) 1-3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14444 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51179 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51187 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33698023-33698524 Neighboring gene LDL receptor related protein 3 Neighboring gene solute carrier family 7 member 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33723689-33723856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33739547-33740048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33741253-33742136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33742137-33743019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33764565-33765125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33765149-33765716 Neighboring gene HNF1 motif-containing MPRA enhancer 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33769447-33770004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33777434-33778421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33782467-33783050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33784308-33785258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10496 Neighboring gene CEBPA divergent transcript Neighboring gene CCAAT enhancer binding protein alpha

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_51216

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_231468.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    33234087..33234256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    35752825..35752994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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