U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132090629 Neanderthal introgressed variant-containing enhancer experimental_62725 [ Homo sapiens (human) ]

Gene ID: 132090629, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC132090629
Gene description
Neanderthal introgressed variant-containing enhancer experimental_62725
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 the non-introgressed 22:20805369 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 LOC132090629 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 (20450997..20451166)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20855283..20855452)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20805284..20805453)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1620 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20783264-20783430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20784487-20785326 Neighboring gene scavenger receptor class F member 2 Neighboring gene uncharacterized LOC107985588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20795983-20796484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20796485-20796984 Neighboring gene kelch like family member 22 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62734 Neighboring gene KLHL12 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62743 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:20810551-20811052 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20814017-20814215 Neighboring gene uncharacterized LOC124905085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18678 Neighboring gene RNY1 pseudogene 9 Neighboring gene RNA, 7SL, cytoplasmic 812, 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)

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_231187.1 

    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
    20450997..20451166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20855283..20855452
    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