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LOC132090278 Neanderthal introgressed variant-containing enhancer experimental_37584 [ Homo sapiens (human) ]

Gene ID: 132090278, updated on 12-Sep-2024

Summary

Gene symbol
LOC132090278
Gene description
Neanderthal introgressed variant-containing enhancer experimental_37584
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 14:80342122 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

See LOC132090278 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (79875694..79875863)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (74085772..74085941)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (80342037..80342206)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene neurexin 3 Neighboring gene uncharacterized LOC105370586 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37233 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37268 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79800513-79801035 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37315 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79840048-79840650 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79840651-79841251 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:79844122-79844915 Neighboring gene NANOG hESC enhancer GRCh37_chr14:79844983-79845538 Neighboring gene NANOG hESC enhancer GRCh37_chr14:79982121-79982761 Neighboring gene uncharacterized LOC124903354 Neighboring gene uncharacterized LOC105370583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37450 Neighboring gene VISTA enhancer hs1369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:80097297-80097798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:80097799-80098298 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_37460 Neighboring gene NANOG hESC enhancer GRCh37_chr14:80146690-80147283 Neighboring gene NANOG hESC enhancer GRCh37_chr14:80287015-80287781 Neighboring gene uncharacterized LOC105370582 Neighboring gene uncharacterized LOC107984630 Neighboring gene uncharacterized LOC112267892 Neighboring gene uncharacterized LOC105370590

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_230836.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    79875694..79875863
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    74085772..74085941
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    GenBank, FASTA, Sequence Viewer (Graphics)