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LOC132090831 Neanderthal introgressed variant-containing enhancer experimental_21531 [ Homo sapiens (human) ]

Gene ID: 132090831, updated on 12-Sep-2024

Summary

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Gene symbol
LOC132090831
Gene description
Neanderthal introgressed variant-containing enhancer experimental_21531
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 expression-modulating variant (emVar), and was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 11:506596 or rs61877760 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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See LOC132090831 in Genome Data Viewer
Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (506511..506680)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (552285..552454)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (506511..506680)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376506 Neighboring gene anoctamin 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3005 Neighboring gene Sharpr-MPRA regulatory region 223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:442612-443409 Neighboring gene RNA, 7SL, cytoplasmic 838, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:449779-450465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:454927-455648 Neighboring gene phosphatidylserine synthase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:460662-460845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:467161-467660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471334-471857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471858-472380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:476893-477888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:484337-484858 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:487868-488008 Neighboring gene MPRA-validated peak1145 silencer Neighboring gene ribonuclease/angiogenin inhibitor 1 Neighboring gene leucine rich repeat containing 56 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:528505-529042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:533792-534649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:534650-535506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:535528-536235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:540668-541490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:543860-544362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:544865-545366 Neighboring gene HRas proto-oncogene, GTPase Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:548147-548965 and GRCh37_chr11:548966-549783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:556675-557511 Neighboring gene LMNTD2 antisense RNA 1 Neighboring gene lamin tail domain containing 2

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

  • emVar-containing allelic enhancer experimental_21531

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_231390.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    506511..506680
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    36152..36321
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    552285..552454
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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