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LOC132089212 Neanderthal introgressed variant-containing enhancer experimental_82779 [ Homo sapiens (human) ]

Gene ID: 132089212, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132089212
Gene description
Neanderthal introgressed variant-containing enhancer experimental_82779
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 genetic variant, and was validated as an enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 5:151852840 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (152473194..152473363)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (153006177..153006346)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (151852755..151852924)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:151724791-151725393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16530 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82576 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82580 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82586 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82589 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82596 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82611 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82644 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82645 Neighboring gene neuromedin U receptor 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82651 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82653 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82661 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82666 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82670/82671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82672 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82684 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_82696 and experimental_82697 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_82718 and experimental_82721/82722 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82727 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82735 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82741 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82746 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82750 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82809 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23469 Neighboring gene ribosomal protein L36a pseudogene 20 Neighboring gene NANOG hESC enhancer GRCh37_chr5:151891040-151891644 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83006 Neighboring gene tRNA-Cys (anticodon ACA) 1-1

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)

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_229771.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    152473194..152473363
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    153006177..153006346
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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