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LOC132090554 Neanderthal introgressed variant-containing enhancer experimental_51709 [ Homo sapiens (human) ]

Gene ID: 132090554, updated on 12-Sep-2024

Summary

Gene symbol
LOC132090554
Gene description
Neanderthal introgressed variant-containing enhancer experimental_51709
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 19:55017869 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

See LOC132090554 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54506568..54506737)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57599914..57600083)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55017784..55017953)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leukocyte receptor cluster member 8 Neighboring gene CDC42 effector protein 5 Neighboring gene leukocyte receptor cluster member 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55018677-55019177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55020667-55021482 Neighboring gene leukocyte associated immunoglobulin like receptor 2 Neighboring gene uncharacterized LOC105372460 Neighboring gene MPRA-validated peak3555 silencer Neighboring gene killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene)

Genomic regions, transcripts, and products

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_231112.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    54506568..54506737
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    412775..412944
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    411286..411455
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    488898..489067
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    57599914..57600083
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    GenBank, FASTA, Sequence Viewer (Graphics)