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LOC132089357 Neanderthal introgressed variant-containing enhancer experimental_90359 [ Homo sapiens (human) ]

Gene ID: 132089357, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089357
Gene description
Neanderthal introgressed variant-containing enhancer experimental_90359
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 6:137445329 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089357 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (137124107..137124276)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (138312460..138312629)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137445244..137445413)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137311375-137312331 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137322965-137323508 Neighboring gene neuroblastoma highly expressed DDX5 stabilizing lncRNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90349 Neighboring gene interleukin 20 receptor subunit alpha Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17579 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137382319-137382457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25128 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:137410449-137410629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25131 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25133 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90362 Neighboring gene interleukin 22 receptor subunit alpha 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137492881-137493639 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90370 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:137500946-137502145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:137540162-137540892 Neighboring gene interferon gamma receptor 1

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_229916.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    137124107..137124276
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    138312460..138312629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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