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LOC132090775 Neanderthal introgressed variant-containing enhancer experimental_100798 [ Homo sapiens (human) ]

Gene ID: 132090775, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090775
Gene description
Neanderthal introgressed variant-containing enhancer experimental_100798
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 introgressed 7:927298 or rs79351189 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090775 in Genome Data Viewer
Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (887576..887745)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (990692..990861)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (927213..927382)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:837226-837726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:849762-850262 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:850239-850399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:852706-853270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:853271-853834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:855273-856014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17821 Neighboring gene Sharpr-MPRA regulatory region 7003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:869831-870726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25474 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:871666-872865 Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25475 Neighboring gene uncharacterized LOC124901568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:923699-924455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:925261-925974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:925975-926688 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:932665-932864 Neighboring gene guided entry of tail-anchored proteins factor 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:938411-938998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:938999-939585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:947339-948037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17826 Neighboring gene ArfGAP with dual PH domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:967671-968257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17828 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:988546-989191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:989192-989836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:992766-993377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17830 Neighboring gene uncharacterized LOC124901569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:994600-995209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1002516-1003103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1006706-1007206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1007207-1007707 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1014408-1015290 Neighboring gene cytochrome c oxidase assembly factor COX19

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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_100798

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_231334.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    887576..887745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    990692..990861
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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