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LOC132090363 Neanderthal introgressed variant-containing enhancer experimental_42301 [ Homo sapiens (human) ]

Gene ID: 132090363, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090363
Gene description
Neanderthal introgressed variant-containing enhancer experimental_42301
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 15:86211404 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090363 in Genome Data Viewer
Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (85668088..85668257)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (83420095..83420264)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85958383-85958882 Neighboring gene A-kinase anchoring protein 13 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85977313-85978117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10012 Neighboring gene fatty acid binding protein 5 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85996962-85997509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85997510-85998056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10017 Neighboring gene Sharpr-MPRA regulatory region 6632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42240 Neighboring gene NANOG hESC enhancer GRCh37_chr15:86171542-86172083 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42264 Neighboring gene Sharpr-MPRA regulatory region 7683 Neighboring gene RNA, U6 small nuclear 1280, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10022 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10024 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:86269598-86270797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:86303833-86304334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86305151-86305884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86306619-86307352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86307353-86308085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86311017-86311791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86311792-86312565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86312566-86313340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:86313341-86314113 Neighboring gene long intergenic non-protein coding RNA 2883 Neighboring gene kelch like family member 25 Neighboring gene microRNA 1276

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_230921.1 

    Range
    101..270
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    85668088..85668257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    83420095..83420264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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