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LOC132211106 Neanderthal introgressed variant-containing enhancers experimental_26567/26568 and experimental_26569 [ Homo sapiens (human) ]

Gene ID: 132211106, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132211106
Gene description
Neanderthal introgressed variant-containing enhancers experimental_26567/26568 and experimental_26569
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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, with one having an expression-modulating variant (emVar). Both subregions were validated as enhancers by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 12:22429875 or rs1960265 variant alleles for one subregion, and for the non-introgressed 12:22429884 variant allele for the other subregion. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132211106 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 (22276856..22277034)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (22154892..22155070)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22429790..22429968)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene sulfotransferase family 6B member 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4287 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22289754-22290362 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26529 Neighboring gene RNA, U1 small nuclear 149, pseudogene Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26564 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26565 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26566 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26571 Neighboring gene uncharacterized LOC112268093 Neighboring gene uncharacterized LOC105369151

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)

General gene information

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Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_26567/26568
  • Neanderthal introgressed variant-containing enhancer experimental_26569
  • emVar-containing allelic enhancer experimental_26567/26568

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_231509.1 

    Range
    101..279
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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
    22276856..22277034
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    22154892..22155070
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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