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LOC132090091 Neanderthal introgressed variant-containing enhancer experimental_27213 [ Homo sapiens (human) ]

Gene ID: 132090091, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090091
Gene description
Neanderthal introgressed variant-containing enhancer experimental_27213
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 introgressed 12:28135989 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090091 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27982971..27983140)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27854704..27854873)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28135904..28136073)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369709 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27974511-27975710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6152 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27196 Neighboring gene MPRA-validated peak1633 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6153 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:28058285-28059082 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:28059083-28059881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28121815-28122325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28122326-28122835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128050-28128738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128739-28129427 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27218 Neighboring gene parathyroid hormone like hormone Neighboring gene MPRA-validated peak1634 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28175972-28177171 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:28180270-28180494 Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28283226-28284425 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27297 Neighboring gene IFT57 pseudogene 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_230649.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    27982971..27983140
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    27854704..27854873
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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