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LOC132090718 Neanderthal introgressed variant-containing enhancer experimental_76848 [ Homo sapiens (human) ]

Gene ID: 132090718, updated on 27-Aug-2024

Summary

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Gene symbol
LOC132090718
Gene description
Neanderthal introgressed variant-containing enhancer experimental_76848
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 4:187542940 or rs77370153 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186621701..186621870)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189968410..189968579)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1055, pseudogene Neighboring gene uncharacterized LOC105377596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187459115-187459616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187459617-187460116 Neighboring gene melatonin receptor 1A Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76785 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187509297-187510496 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187524269-187525468 Neighboring gene FAT atypical cadherin 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76856 Neighboring gene uncharacterized LOC107986334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76895 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:187608985-187609605 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187610837-187611336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187644451-187644952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187645453-187646452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187647635-187648136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187670509-187671010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187671011-187671510 Neighboring gene uncharacterized LOC124900875

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_76848

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_231277.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    186621701..186621870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    189968410..189968579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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