U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132090888 Neanderthal introgressed variant-containing enhancer experimental_45804 [ Homo sapiens (human) ]

Gene ID: 132090888, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC132090888
Gene description
Neanderthal introgressed variant-containing enhancer experimental_45804
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 both the introgressed and non-introgressed 16:78099406 or rs12927231 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 LOC132090888 in Genome Data Viewer
Location:
chromosome: 16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (78065424..78065593)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (84121221..84121390)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (78099321..78099490)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984897 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45663 Neighboring gene leucine rich repeat containing 59 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45737 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:78133785-78134284 Neighboring gene keratin 8 pseudogene 22 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45974 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45980 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46047 Neighboring gene Sharpr-MPRA regulatory region 1447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:78247857-78248356 Neighboring gene WW domain containing oxidoreductase Neighboring gene Sharpr-MPRA regulatory region 10407 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46108 Neighboring gene WWOX antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:78337176-78337676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:78337677-78338177 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:78345064-78345644 Neighboring gene NANOG hESC enhancer GRCh37_chr16:78347375-78347876 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46172 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46191 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46196 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 5

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)

General gene information

Go to the top of the page Help

Other Names

  • emVar-containing allelic enhancer experimental_45804

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_231447.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    78065424..78065593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    84121221..84121390
    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