U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132090918 Neanderthal introgressed variant-containing enhancer experimental_62637 [ Homo sapiens (human) ]

Gene ID: 132090918, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC132090918
Gene description
Neanderthal introgressed variant-containing enhancer experimental_62637
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 22:20727675 or rs60469696 variant allele. [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 LOC132090918 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20373300..20373469)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20777621..20777790)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20727590..20727759)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 230 member G Neighboring gene MPRA-validated peak4456 silencer Neighboring gene uncharacterized LOC124905153 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20708428-20708649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715037-20715538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715539-20716038 Neighboring gene ubiquitin specific peptidase 41, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20747551-20748540 Neighboring gene zinc finger protein 74 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62654 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62657 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20764690-20764912 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62670 Neighboring gene RNA, U6 small nuclear 225, pseudogene

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_62637

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_231477.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    20373300..20373469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20777621..20777790
    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