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LOC132205952 Neanderthal introgressed variant-containing enhancers experimental_9573 and experimental_9584 [ Homo sapiens (human) ]

Gene ID: 132205952, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132205952
Gene description
Neanderthal introgressed variant-containing enhancers experimental_9573 and experimental_9584
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 includes two overlapping subregions containing Neanderthal adaptively introgressed genetic variants. Both subregions were validated as enhancers by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for the non-introgressed 1:9454243 variant allele for one subregion, and for both the introgressed and non-introgressed 1:9454250 variant alleles for the other subregion. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132205952 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9394099..9394275)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8928962..8929138)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9308569-9309492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9309493-9310416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9311341-9312263 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:9312526-9313085 Neighboring gene hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_9566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9364927-9365774 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9376867-9377040 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9377645-9378844 Neighboring gene Sharpr-MPRA regulatory region 3390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9410201-9410702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9410703-9411202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9412777-9413692 Neighboring gene VISTA enhancer hs1615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9445249-9445882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9445883-9446516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9459188-9460031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9460032-9460874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9460875-9461717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9472665-9473598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9473599-9474530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9477117-9477617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9487788-9488422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 128 Neighboring gene long intergenic non-protein coding RNA 2606 Neighboring gene RNA, 5S ribosomal pseudogene 40

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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

General gene information

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Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_9573
  • Neanderthal introgressed variant-containing enhancer experimental_9584

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_231485.1 

    Range
    101..277
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    9394099..9394275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    8928962..8929138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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