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LOC132089555 Neanderthal introgressed variant-containing enhancer experimental_99965 [ Homo sapiens (human) ]

Gene ID: 132089555, updated on 12-Sep-2024

Summary

Gene symbol
LOC132089555
Gene description
Neanderthal introgressed variant-containing enhancer experimental_99965
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 non-introgressed 7:71514089 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

See LOC132089555 in Genome Data Viewer
Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (72049019..72049188)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (73265836..73266005)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (71514004..71514173)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene calneuron 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71406788-71407288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71407289-71407789 Neighboring gene RNA, 5S ribosomal pseudogene 232 Neighboring gene ribosomal protein S28 pseudogene 6 Neighboring gene ATP binding cassette subfamily F member 2 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:71689607-71689762 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:71730468-71731047 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:71778325-71778516 Neighboring gene MPRA-validated peak6577 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:71870231-71871430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71911988-71912488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:71912489-71912989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72087779-72088278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72120413-72120929 Neighboring gene tRNA-yW synthesizing protein 1 homolog B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26118 Neighboring gene MPRA-validated peak6582 silencer Neighboring gene microRNA 4650-2

Genomic regions, transcripts, and products

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_230114.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    72049019..72049188
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    73265836..73266005
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    GenBank, FASTA, Sequence Viewer (Graphics)