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LOC132211105 Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565 [ Homo sapiens (human) ]

Gene ID: 132211105, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132211105
Gene description
Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565
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 includes two overlapping subregions containing Neanderthal adaptively introgressed genetic variants. Both subregions were validated as enhancers by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 11:120178347 and 11:120178414 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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (120307553..120307789)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120330349..120330585)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120119877-120120516 Neighboring gene Sharpr-MPRA regulatory region 564 Neighboring gene POU class 2 homeobox 3 Neighboring gene uncharacterized LOC649133 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120135803-120135974 Neighboring gene uncharacterized LOC105369531 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120146894-120147083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120176405-120176922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120177487-120177989 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120184592 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120193421-120193580 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120195689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3991 Neighboring gene TLC domain containing 5 Neighboring gene Rho guanine nucleotide exchange factor 12 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120224214-120224428 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120249395 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120288060 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120305787 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120306759 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120313899 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120345004 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120350393 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120356317

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

General gene information

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Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_19560
  • Neanderthal introgressed variant-containing enhancer experimental_19565

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_231508.1 

    Range
    101..337
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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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    120307553..120307789
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    120330349..120330585
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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