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LOC132090673 Neanderthal introgressed variant-containing enhancer experimental_1994 [ Homo sapiens (human) ]

Gene ID: 132090673, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090673
Gene description
Neanderthal introgressed variant-containing enhancer experimental_1994
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for the non-introgressed 1:208781507 or rs1417077 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090673 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (208608077..208608246)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (207854895..207855064)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372889 Neighboring gene uncharacterized LOC124904501 Neighboring gene NANOG hESC enhancer GRCh37_chr1:208443936-208444517 Neighboring gene MPRA-validated peak670 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:208547462-208548227 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:208551780-208552116 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:208586461-208586653 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1772 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1780 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1801 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:208618537-208619736 Neighboring gene uncharacterized LOC107985460 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208774147-208774647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2463 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_2023 and experimental_2030 Neighboring gene long intergenic non-protein coding RNA 1735 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2148 Neighboring gene long intergenic non-protein coding RNA 2769 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:208825704-208825890 Neighboring gene uncharacterized LOC105372892 Neighboring gene ribosomal protein S26 pseudogene 13

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

  • emVar-containing allelic enhancer experimental_1994

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_231232.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    208608077..208608246
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    207854895..207855064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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