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LOC132090247 Neanderthal introgressed variant-containing enhancer experimental_35749 [ Homo sapiens (human) ]

Gene ID: 132090247, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090247
Gene description
Neanderthal introgressed variant-containing enhancer experimental_35749
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 14:67156705 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090247 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 (66689902..66690071)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60897030..60897199)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67156620..67156789)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2176 silencer Neighboring gene long intergenic non-protein coding RNA 2290 Neighboring gene MPRA-validated peak2177 silencer Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_35463 and experimental_35465 Neighboring gene Sharpr-MPRA regulatory region 5211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35504 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35506 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5853 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35661 Neighboring gene coiled-coil domain containing 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8574 Neighboring gene gephyrin Neighboring gene MPRA-validated peak2180 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35767 Neighboring gene uncharacterized LOC124903332 Neighboring gene probable ribosome biogenesis protein RLP24

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_230805.1 

    Range
    101..270
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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
    66689902..66690071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    60897030..60897199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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