U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC132211110 Neanderthal introgressed variant-containing enhancers experimental_35463 and experimental_35465 [ Homo sapiens (human) ]

Gene ID: 132211110, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC132211110
Gene description
Neanderthal introgressed variant-containing enhancers experimental_35463 and experimental_35465
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 both the introgressed and non-introgressed 14:66845471 and 14:66845480 variant alleles. [provided by RefSeq, Sep 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC132211110 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66378668..66378846)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60585649..60585827)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66845386..66845564)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:66481099-66482298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:66559679-66560179 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35366 Neighboring gene MPRA-validated peak2176 silencer Neighboring gene Y-box binding protein 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2290 Neighboring gene MPRA-validated peak2177 silencer Neighboring gene Sharpr-MPRA regulatory region 5211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35504 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35506 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35661 Neighboring gene coiled-coil domain containing 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35749 Neighboring gene gephyrin Neighboring gene MPRA-validated peak2180 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35767 Neighboring gene uncharacterized LOC124903332

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_35463
  • Neanderthal introgressed variant-containing enhancer experimental_35465

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_231513.1 

    Range
    101..279
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    66378668..66378846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    60585649..60585827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases