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LOC132090680 Neanderthal introgressed variant-containing enhancer experimental_53569 [ Homo sapiens (human) ]

Gene ID: 132090680, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090680
Gene description
Neanderthal introgressed variant-containing enhancer experimental_53569
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 2:160042198 or rs17494014 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090680 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (159185602..159185771)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (159645403..159645572)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (160042113..160042282)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 Neighboring gene VISTA enhancer hs2027 Neighboring gene RNA, U6 small nuclear 580, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:159920830-159921358 Neighboring gene glutathione S-transferase mu 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16682 Neighboring gene Sharpr-MPRA regulatory region 14439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159980099-159980612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159980613-159981124 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53540 Neighboring gene Sharpr-MPRA regulatory region 14614 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16683 Neighboring gene microRNA 6888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16684 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:160067858-160068472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:160081586-160082095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:160082096-160082604 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53624 Neighboring gene uncharacterized LOC105373716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53635 Neighboring gene WD repeat, sterile alpha motif and U-box domain containing 1

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_53569

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_231239.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    159185602..159185771
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    159645403..159645572
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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