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LOC132090483 Neanderthal introgressed variant-containing enhancer experimental_47633 [ Homo sapiens (human) ]

Gene ID: 132090483, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090483
Gene description
Neanderthal introgressed variant-containing enhancer experimental_47633
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 the introgressed 17:933874 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090483 in Genome Data Viewer
Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1030549..1030718)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (917198..917367)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (933789..933958)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371481 Neighboring gene ABR activator of RhoGEF and GTPase Neighboring gene uncharacterized LOC124903895 Neighboring gene microRNA 3183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:951533-952418 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:965257-965880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:973072-973572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:973573-974073 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:1017969-1018612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1026293-1026834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1026835-1027376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1051001-1051500 Neighboring gene uncharacterized LOC105371480

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. Jagoda E, et al. Mol Biol Evol, 2022 Jan 7. PMID 34662402, Free PMC Article

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_231041.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1030549..1030718
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    69796..69965
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187664.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    69796..69965
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    917198..917367
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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