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LOC132205963 Neanderthal introgressed variant-containing enhancers experimental_92772 and experimental_92778 [ Homo sapiens (human) ]

Gene ID: 132205963, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132205963
Gene description
Neanderthal introgressed variant-containing enhancers experimental_92772 and experimental_92778
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 6:66160753 variant allele for one subregion, and for both the introgressed and non-introgressed 6:66160813 variant alleles for the other subregion. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132205963 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (65450775..65451004)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (66604558..66604787)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (66160668..66160897)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene eyes shut homolog Neighboring gene uncharacterized LOC124901559 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92568 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92593 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92656 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92651 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92636 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92629 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92672 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92766 Neighboring gene zinc finger CCCH-type containing 11C Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92831 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92928 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92954 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:66278733-66279372 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93152 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93271 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr6:66348122-66348622 and GRCh37_chr6:66348623-66349123 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_93370 and experimental_93383 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93446 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93466 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93494 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93502 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93582 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:66481227-66481728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:66481729-66482228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93679 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_93689 Neighboring gene SLC25A51 pseudogene 1 Neighboring gene ADH5 pseudogene 4

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_92772
  • Neanderthal introgressed variant-containing enhancer experimental_92778

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_231496.1 

    Range
    101..330
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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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    65450775..65451004
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    66604558..66604787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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