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LOC132090736 Neanderthal introgressed variant-containing enhancer experimental_82036 [ Homo sapiens (human) ]

Gene ID: 132090736, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090736
Gene description
Neanderthal introgressed variant-containing enhancer experimental_82036
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 5:148410769 or rs79031600 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090736 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (149031121..149031290)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (149565966..149566135)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986462 Neighboring gene 5-hydroxytryptamine receptor 4 Neighboring gene NANOG hESC enhancer GRCh37_chr5:148099086-148099657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:148206489-148207074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23369 Neighboring gene adrenoceptor beta 2 Neighboring gene MPRA-validated peak5531 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:148289701-148290900 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82030 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:148335980-148336552 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:148349629-148350210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:148358305-148358824 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148363540-148364739 Neighboring gene SH3 domain and tetratricopeptide repeats 2 Neighboring gene RNA, U6 small nuclear 732, pseudogene Neighboring gene microRNA 584

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_82036

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_231295.1 

    Range
    101..270
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    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    149031121..149031290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    149565966..149566135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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