U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132089289 Neanderthal introgressed variant-containing enhancer experimental_86692/86693 [ Homo sapiens (human) ]

Gene ID: 132089289, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC132089289
Gene description
Neanderthal introgressed variant-containing enhancer experimental_86692/86693
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 5:583198 variant alleles. [provided by RefSeq, Sep 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC132089289 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (582998..583167)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (581124..581293)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (583113..583282)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:556500-557000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:570349-570938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:570939-571526 Neighboring gene uncharacterized LOC105374607 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86701 Neighboring gene uncharacterized LOC105374608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:602876-603376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:603377-603877 Neighboring gene CEP72 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:611378-612308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:612309-613238 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890 Neighboring gene centrosomal protein 72 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643172-643672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:643673-644173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86745 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86749/86750 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86779 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86783 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:669166-669920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86803 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:673521-674090 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86819 Neighboring gene tubulin polymerization promoting protein Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86831

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_229848.1 

    Range
    101..270
    Download
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    582998..583167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187550.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    43730..43899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    581124..581293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases