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LOC132090295 Neanderthal introgressed variant-containing enhancer experimental_38968 [ Homo sapiens (human) ]

Gene ID: 132090295, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090295
Gene description
Neanderthal introgressed variant-containing enhancer experimental_38968
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 both the introgressed and non-introgressed 14:97620843 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090295 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 (97154421..97154590)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (91386295..91386464)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (97620758..97620927)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903376 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:97491895-97492484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:97492485-97493073 Neighboring gene uncharacterized LOC105370647 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:97573059-97574258 Neighboring gene long intergenic non-protein coding RNA 2304 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:97646084-97647283 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:97732279-97733478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:97832946-97833480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:97832410-97832945 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:97845143-97845772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8999 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:97869232-97870431 Neighboring gene NANOG hESC enhancer GRCh37_chr14:97878244-97878765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:97906411-97906911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9000 Neighboring gene long intergenic non-protein coding RNA 2325 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38981 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:98001127-98001628 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:98008053-98009252

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_230853.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    97154421..97154590
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    91386295..91386464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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