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LOC132090781 Neanderthal introgressed variant-containing enhancer experimental_100640 [ Homo sapiens (human) ]

Gene ID: 132090781, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090781
Gene description
Neanderthal introgressed variant-containing enhancer experimental_100640
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 7:84398854 or rs77315113 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090781 in Genome Data Viewer
Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (84769453..84769622)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (86019254..86019423)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (84398769..84398938)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3017 Neighboring gene ribosomal protein L7 pseudogene 30 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:84217793-84218992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:84266239-84267014 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:84267015-84267788 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100503 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100510 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:84344191-84344373 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100536 Neighboring gene VISTA enhancer hs2328 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 11 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 8

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_100640

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_231340.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    84769453..84769622
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    86019254..86019423
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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