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LOC132089758 Neanderthal introgressed variant-containing enhancer experimental_11124 [ Homo sapiens (human) ]

Gene ID: 132089758, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089758
Gene description
Neanderthal introgressed variant-containing enhancer experimental_11124
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 10:131925017 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089758 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 (130126668..130126837)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (131055666..131055835)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (131924932..131925101)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene chromosome 10 open reading frame 143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131903776-131904291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4208 Neighboring gene uncharacterized LOC102724883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4209 Neighboring gene CTAGE family member 7, pseudogene Neighboring gene uncharacterized LOC124902560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131919446-131919946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131919947-131920447 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11122 Neighboring gene uncharacterized LOC105378561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131935765-131936400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131936401-131937035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4213 Neighboring gene peptidylprolyl isomerase A pseudogene 32 Neighboring gene glutaredoxin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131966412-131966912 Neighboring gene uncharacterized LOC124902561

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_230316.1 

    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
    130126668..130126837
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    131055666..131055835
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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