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LOC132090096 Neanderthal introgressed variant-containing enhancer experimental_27393 [ Homo sapiens (human) ]

Gene ID: 132090096, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090096
Gene description
Neanderthal introgressed variant-containing enhancer experimental_27393
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 non-introgressed 12:28443772 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090096 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (28290754..28290923)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (28163116..28163287)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28443687..28443856)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4316 Neighboring gene Sharpr-MPRA regulatory region 4473 Neighboring gene IFT57 pseudogene 1 Neighboring gene uncharacterized LOC729291 Neighboring gene MPRA-validated peak1636 silencer Neighboring gene coiled-coil domain containing 91 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27354 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6155 Neighboring gene MPRA-validated peak1637 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27419 Neighboring gene RNA, U4 small nuclear 54, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27646 Neighboring gene RNA, 5S ribosomal pseudogene 355

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_230654.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    28290754..28290923
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    28163116..28163287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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