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LOC132089931 Neanderthal introgressed variant-containing enhancer experimental_21169 [ Homo sapiens (human) ]

Gene ID: 132089931, updated on 27-Aug-2024

Summary

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Gene symbol
LOC132089931
Gene description
Neanderthal introgressed variant-containing enhancer experimental_21169
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 11:3218340 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3197025..3197194)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3287273..3287442)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3083786-3084412 Neighboring gene MPRA-validated peak1169 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3096337-3096837 Neighboring gene hESC enhancers GRCh37_chr11:3112372-3113180 and GRCh37_chr11:3113181-3113988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3114797-3115604 Neighboring gene oxysterol binding protein like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3075 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21160 Neighboring gene Sharpr-MPRA regulatory region 6583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3156337-3156944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3156945-3157553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3157554-3158161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3170165-3170940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3170941-3171714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3171715-3172488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3174611-3175359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3178797-3179602 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3180024-3180197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3184585-3185278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3187022-3187734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3193010-3193510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3193511-3194011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3203703-3204203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3223199-3223854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3241139-3242101 Neighboring gene MRGPRG antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3245215-3246093 Neighboring gene MAS related GPR family member G Neighboring gene MAS related GPR family member E

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

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_230489.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    3197025..3197194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    3287273..3287442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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