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LOC132088668 Neanderthal introgressed variant-containing enhancer experimental_5416 [ Homo sapiens (human) ]

Gene ID: 132088668, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132088668
Gene description
Neanderthal introgressed variant-containing enhancer experimental_5416
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 1:22442983 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132088668 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 (22116405..22116574)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21940162..21940331)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22442898..22443067)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3950 Neighboring gene long intergenic non-protein coding RNA 1635 Neighboring gene long intergenic non-protein coding RNA 339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 347 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:22379623-22380190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22380191-22380759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22387820-22388320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22388321-22388821 Neighboring gene cell division cycle 42 Neighboring gene MPHOSPH6 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 348 Neighboring gene Sharpr-MPRA regulatory region 8542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22446773-22447390 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22448010-22448627 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22457824-22458584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22458585-22459343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22459683-22460408 Neighboring gene Wnt family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22462663-22463176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22465050-22466004 Neighboring gene uncharacterized LOC105376845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 400 Neighboring gene uncharacterized LOC105376850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22498925-22499424

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_229227.1 

    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
    22116405..22116574
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    21940162..21940331
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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