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LOC132088605 Neanderthal introgressed variant-containing enhancer experimental_1556 [ Homo sapiens (human) ]

Gene ID: 132088605, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132088605
Gene description
Neanderthal introgressed variant-containing enhancer experimental_1556
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 1:1994753 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132088605 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2063229..2063398)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1498748..1498917)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1994668..1994837)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1974620-1975249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1977985-1978738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1978739-1979492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 103 Neighboring gene PRKCZ divergent transcript Neighboring gene protein kinase C zeta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2016670-2017668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2026419-2026920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2026921-2027420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 46 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2061703-2062652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2062653-2063602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2064553-2065502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2068353-2069301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2071397-2071980 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2105285-2105451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2107005-2107613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2111308-2112266 Neighboring gene PRKCZ antisense RNA 1 Neighboring gene uncharacterized LOC112268219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 47 Neighboring gene FA core complex associated protein 20

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_229164.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    2063229..2063398
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    1498748..1498917
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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