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LOC132090922 Neanderthal introgressed variant-containing enhancer experimental_63367 [ Homo sapiens (human) ]

Gene ID: 132090922, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090922
Gene description
Neanderthal introgressed variant-containing enhancer experimental_63367
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 22:39299472 or rs2205966 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090922 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 (38903382..38903551)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39373752..39373921)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39299387..39299556)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene neuronal pentraxin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39255577-39256456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39260057-39260936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39260937-39261814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39261933-39262744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39268427-39268977 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39269364-39270563 Neighboring gene chromobox 6 Neighboring gene uncharacterized LOC105373032 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63315 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_63385 and experimental_63387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39332328-39333149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39345610-39346460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39350327-39351206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39359385-39360194 Neighboring gene uncharacterized LOC105373033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39361630-39362609 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic subunit 3A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_63367

NCBI Reference Sequences (RefSeq)

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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_231481.1 

    Range
    101..270
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    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
    38903382..38903551
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315972.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    19089..19258
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    39373752..39373921
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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