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LOC132089742 Neanderthal introgressed variant-containing enhancer experimental_10180 [ Homo sapiens (human) ]

Gene ID: 132089742, updated on 12-Sep-2024

Summary

Gene symbol
LOC132089742
Gene description
Neanderthal introgressed variant-containing enhancer experimental_10180
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 10:121570795 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

See LOC132089742 in Genome Data Viewer
Location:
chromosome: 10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119811198..119811367)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120708778..120708947)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121570710..121570879)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121443219-121443398 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:121446148-121447084 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121447085-121448021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:121451095-121451594 Neighboring gene thioredoxin pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4131 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121471328-121471517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121480870-121481758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2881 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121492744-121493244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121497641-121498186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121498187-121498732 Neighboring gene inositol polyphosphate-5-phosphatase F Neighboring gene Sharpr-MPRA regulatory region 1472 Neighboring gene RNA, 7SL, cytoplasmic 846, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8600 Neighboring gene uncharacterized LOC105378513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2883 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10184 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121575109-121575271 Neighboring gene phosphatase and actin regulator 2 pseudogene 1 Neighboring gene minichromosome maintenance complex binding protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121610009-121610508 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4133

Genomic regions, transcripts, and products

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_230300.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    119811198..119811367
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    120708778..120708947
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    GenBank, FASTA, Sequence Viewer (Graphics)