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LOC132211113 Neanderthal introgressed variant-containing enhancers experimental_48194 and experimental_48198 [ Homo sapiens (human) ]

Gene ID: 132211113, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132211113
Gene description
Neanderthal introgressed variant-containing enhancers experimental_48194 and experimental_48198
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 includes two overlapping subregions containing Neanderthal adaptively introgressed genetic variants. Both subregions were validated as enhancers by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for the non-introgressed 18:55134976 variant allele for one subregion, and for both the introgressed and non-introgressed 18:55135079 variant alleles for the other subregion. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132211113 in Genome Data Viewer
Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (57467659..57467931)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (57668608..57668880)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55134891..55135163)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 737, pseudogene Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55101332-55101912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55101913-55102492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55104607-55105362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55106119-55106874 Neighboring gene FOXA motif-containing MPRA enhancer 78 Neighboring gene one cut homeobox 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48219 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13370 Neighboring gene MPRA-validated peak3163 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:55230082-55230255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13373 Neighboring gene ferrochelatase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9481 Neighboring gene Sharpr-MPRA regulatory region 4588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55288917-55289621 Neighboring gene asparaginyl-tRNA synthetase 1

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)

General gene information

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Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_48194
  • Neanderthal introgressed variant-containing enhancer experimental_48198

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_231516.1 

    Range
    101..373
    Download
    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    57467659..57467931
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    57668608..57668880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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