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LOC132211109 Neanderthal introgressed variant-containing enhancers experimental_34693 and experimental_34700 [ Homo sapiens (human) ]

Gene ID: 132211109, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132211109
Gene description
Neanderthal introgressed variant-containing enhancers experimental_34693 and experimental_34700
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 the introgressed 14:61924704 variant allele for one subregion, and for both the introgressed and non-introgressed 14:61924735 variant alleles for the other subregion. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132211109 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (61457901..61458101)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55664501..55664701)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (61924619..61924819)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein kinase C eta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:61746518-61747481 Neighboring gene transmembrane protein 30B Neighboring gene PRKCH antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61788641-61789185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61789186-61789729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5819 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:61822129-61823328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8492 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34691 Neighboring gene Sharpr-MPRA regulatory region 10871 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:61932802-61933718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8495 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34726 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:61972906-61973478 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8496 Neighboring gene uncharacterized LOC105370525 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:62004017-62005216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62018627-62019137 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:62019138-62019647 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:62028305-62029504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:62034963-62035464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:62035465-62035964 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:62036356-62036548 Neighboring gene long intergenic non-protein coding RNA 1303 Neighboring gene long intergenic non-protein coding RNA 3033

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)

General gene information

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Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_34693
  • Neanderthal introgressed variant-containing enhancer experimental_34700

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_231512.1 

    Range
    101..301
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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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    61457901..61458101
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    55664501..55664701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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