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LOC132089709 Neanderthal introgressed variant-containing enhancer experimental_109225 [ Homo sapiens (human) ]

Gene ID: 132089709, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089709
Gene description
Neanderthal introgressed variant-containing enhancer experimental_109225
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 9:94020954 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089709 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (91258587..91258756)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (103424730..103424899)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (94020869..94021038)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2937 Neighboring gene long intergenic non-protein coding RNA 484 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:93909043-93909610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28584 Neighboring gene Sharpr-MPRA regulatory region 1412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109154 Neighboring gene Sharpr-MPRA regulatory region 6399 Neighboring gene uncharacterized LOC124902208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:93956125-93956992 Neighboring gene Sharpr-MPRA regulatory region 9930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28586 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:93979563-93980163 Neighboring gene Sharpr-MPRA regulatory region 15085 Neighboring gene AU RNA binding methylglutaconyl-CoA hydratase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109279 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:94076941-94077442 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:94077443-94077942 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94106111-94106766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20025 Neighboring gene MPRA-validated peak7289 silencer Neighboring gene uncharacterized LOC124902209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20026 Neighboring gene synapsin-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:94188762-94188958 Neighboring gene nuclear factor, interleukin 3 regulated

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_230267.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    91258587..91258756
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    103424730..103424899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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