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LOC132089372 Neanderthal introgressed variant-containing enhancer experimental_90731 [ Homo sapiens (human) ]

Gene ID: 132089372, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089372
Gene description
Neanderthal introgressed variant-containing enhancer experimental_90731
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 non-introgressed 6:144744844 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089372 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 (144423623..144423792)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (145616228..145616397)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (144744759..144744928)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene rhomboid domain containing 1 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144754756-144755258 Neighboring gene utrophin Neighboring gene ReSE screen-validated silencer GRCh37_chr6:144780729-144780932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25221 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:144790768-144791444 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:144794141-144795340 Neighboring gene small nucleolar RNA, H/ACA box 98 Neighboring gene Sharpr-MPRA regulatory region 2668 Neighboring gene Sharpr-MPRA regulatory region 10150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25222 Neighboring gene NANOG hESC enhancer GRCh37_chr6:145107948-145108449 Neighboring gene Sharpr-MPRA regulatory region 9645 Neighboring gene MPRA-validated peak6190 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:145134839-145135340 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:145190998-145191517 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:145218575-145219774 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:145272790-145273457 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:145275769-145276268 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:145298093-145298720 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:145327891-145328441 Neighboring gene NANOG hESC enhancer GRCh37_chr6:145424274-145424879 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:145456814-145458013 Neighboring gene tRNA-Gln (anticodon TTG) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25223 Neighboring gene EPM2A glucan phosphatase, laforin Neighboring gene RNA, U1 small nuclear 33, pseudogene

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_229931.1 

    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
    144423623..144423792
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    145616228..145616397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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