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LOC132090654 Neanderthal introgressed variant-containing enhancer experimental_63487 [ Homo sapiens (human) ]

Gene ID: 132090654, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090654
Gene description
Neanderthal introgressed variant-containing enhancer experimental_63487
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 22:49067525 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090654 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (48671628..48671797)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (49165200..49165369)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (49067440..49067609)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TAFA chemokine like family member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48943879-48944378 Neighboring gene uncharacterized LOC284933 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:48953988-48954215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:48955380-48956268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:48956269-48957157 Neighboring gene uncharacterized LOC124900480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:48972958-48973464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49001381-49002302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49024390-49025219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49025220-49026048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49026049-49026878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49030484-49031058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49031059-49031631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49036799-49037318 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:49043107-49043284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49062165-49062666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49062667-49063166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49064778-49065430 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49096987-49097494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49097495-49098002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49107619-49108118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49113659-49114248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49114249-49114838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:49191875-49192796 Neighboring gene microRNA 4535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49232881-49233408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49252199-49252698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49264603-49265104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49265105-49265604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49267795-49268295 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63550 Neighboring gene long intergenic non-protein coding RNA 1310

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_231212.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    48671628..48671797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    49165200..49165369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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