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LOC132089069 Neanderthal introgressed variant-containing enhancer experimental_75539 [ Homo sapiens (human) ]

Gene ID: 132089069, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132089069
Gene description
Neanderthal introgressed variant-containing enhancer experimental_75539
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 4:162949610 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132089069 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (162028373..162028542)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (165375979..165376148)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377514 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75306 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:162017778-162018000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75339 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75379 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75396 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:162118905-162119539 Neighboring gene uncharacterized LOC105377515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15779 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75511 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:162314653-162315207 Neighboring gene follistatin like 5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:162446057-162446894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22094 Neighboring gene Sharpr-MPRA regulatory region 7835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:162743095-162743596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:162748311-162748812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:162748813-162749312 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:162857394-162858593 Neighboring gene uncharacterized LOC101928052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22095 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75628 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 4 Neighboring gene uncharacterized LOC124900803 Neighboring gene uncharacterized LOC124900804

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

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_229628.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    162028373..162028542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    165375979..165376148
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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