U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132090641 Neanderthal introgressed variant-containing enhancer experimental_63111 [ Homo sapiens (human) ]

Gene ID: 132090641, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC132090641
Gene description
Neanderthal introgressed variant-containing enhancer experimental_63111
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 22:22333025 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 LOC132090641 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 (21978568..21978737)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22392102..22392271)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22332940..22333109)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63076 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22254563-22254749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22271290-22272100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22274276-22274935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22275597-22276255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22292226-22293032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22293033-22293840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22293841-22294647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22298307-22298806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22306489-22307009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18712 Neighboring gene MPPE1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22318681-22319182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22319183-22319682 Neighboring gene PPM1F antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22336585-22337571 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:22372768-22373375 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1F Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22385376-22386155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22384595-22385375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18714 Neighboring gene DNA topoisomerase III beta Neighboring gene PRAME N-terminal like, pseudogene Neighboring gene immunoglobulin lambda variable (I)-70 (pseudogene) Neighboring gene immunoglobulin lambda variable 4-69 Neighboring gene immunoglobulin lambda locus

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_231199.1 

    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
    21978568..21978737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    22392102..22392271
    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