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LOC132090737 Neanderthal introgressed variant-containing enhancer experimental_82107 [ Homo sapiens (human) ]

Gene ID: 132090737, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090737
Gene description
Neanderthal introgressed variant-containing enhancer experimental_82107
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 contains a Neanderthal adaptively introgressed expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 5:148796677 or rs76903304 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090737 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149417029..149417198)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (149951874..149952043)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (148796592..148796761)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16496 Neighboring gene prenylcysteine oxidase 1 like Neighboring gene Sharpr-MPRA regulatory region 12528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148746417-148747281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148747282-148748145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148759103-148759637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148759990-148760702 Neighboring gene interleukin 17B Neighboring gene uncharacterized LOC101927046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148762129-148762840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148764726-148765226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148784456-148785046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148786897-148787897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148790014-148790554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148790555-148791094 Neighboring gene cardiac mesoderm enhancer-associated non-coding RNA Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82102 Neighboring gene VISTA enhancer hs1752 Neighboring gene microRNA 143 Neighboring gene microRNA 145

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

  • emVar-containing allelic enhancer experimental_82107

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_231296.1 

    Range
    101..270
    Download
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    149417029..149417198
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    149951874..149952043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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