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LOC132090769 Neanderthal introgressed variant-containing enhancer experimental_90217 [ Homo sapiens (human) ]

Gene ID: 132090769, updated on 14-Oct-2023

Summary

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Gene symbol
LOC132090769
Gene description
Neanderthal introgressed variant-containing enhancer experimental_90217
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 6:136786104 or rs17723064 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090769 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (136464881..136465050)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (137653079..137653248)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microtubule associated protein 7 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 8 Neighboring gene MPRA-validated peak6144 silencer Neighboring gene phosphopantothenate--cysteine ligase-like Neighboring gene Sharpr-MPRA regulatory region 12163 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90214 Neighboring gene MPRA-validated peak6145 silencer Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 1 Neighboring gene MPRA-validated peak6146 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:136846904-136847714 Neighboring gene RN7SK pseudogene 299

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

General gene information

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Other Names

  • emVar-containing allelic enhancer experimental_90217

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_231328.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    136464881..136465050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    137653079..137653248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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