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LOC132090884 Neanderthal introgressed variant-containing enhancer experimental_41636 [ Homo sapiens (human) ]

Gene ID: 132090884, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090884
Gene description
Neanderthal introgressed variant-containing enhancer experimental_41636
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 15:84450947 or rs12910446 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090884 in Genome Data Viewer
Location:
chromosome: 15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (83782110..83782279)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (81650518..81650687)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (84450862..84451031)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ADAMTS like 3 Neighboring gene RNA, U6 small nuclear 401, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41616 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41626 Neighboring gene tubulin alpha pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9974 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41638 Neighboring gene RNA, U6 small nuclear 1339, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9978 Neighboring gene uncharacterized LOC105370935

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_41636

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_231443.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    83782110..83782279
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791797.1 Reference GRCh38.p14 PATCHES

    Range
    387904..388073
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    81650518..81650687
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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