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LOC132090794 Neanderthal introgressed variant-containing enhancer experimental_110389 [ Homo sapiens (human) ]

Gene ID: 132090794, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090794
Gene description
Neanderthal introgressed variant-containing enhancer experimental_110389
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 9:97628487 or rs7848054 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090794 in Genome Data Viewer
Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (94866120..94866289)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (107035469..107035638)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene aminopeptidase O (putative) Neighboring gene uncharacterized LOC124902220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28635 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:97587461-97588134 Neighboring gene microRNA 2278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:97634019-97634518 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110405 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110431 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:97678815-97679315 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97680413-97680914 Neighboring gene uncharacterized LOC101928119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97689588-97690377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97690378-97691166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97691883-97692383 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:97712716-97712894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20058 Neighboring gene Sharpr-MPRA regulatory region 10357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97741836-97742834 Neighboring gene Sharpr-MPRA regulatory region 2222 Neighboring gene Sharpr-MPRA regulatory region 14176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20061 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:97780096-97781295 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:97785561-97786760 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:97791169-97791319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97794537-97795036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97807172-97807937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97825060-97825769 Neighboring gene microRNA 6081

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_110389

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_231353.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    94866120..94866289
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    107035469..107035638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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