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LOC132211107 Neanderthal introgressed variant-containing enhancers experimental_27720 and experimental_27723 [ Homo sapiens (human) ]

Gene ID: 132211107, updated on 12-Sep-2024

Summary

Gene symbol
LOC132211107
Gene description
Neanderthal introgressed variant-containing enhancers experimental_27720 and experimental_27723
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 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 introgressed 12:28735636 variant allele for one subregion, and for both the introgressed and non-introgressed 12:28735786 variant alleles for the other subregion. [provided by RefSeq, Sep 2023]
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Genomic context

See LOC132211107 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (28582618..28582937)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (28455064..28455383)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28735551..28735870)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 91 Neighboring gene RNA, 5S ribosomal pseudogene 355 Neighboring gene MPRA-validated peak1639 silencer Neighboring gene ribosomal protein L29 pseudogene 27 Neighboring gene uncharacterized LOC105369711 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:28912143-28912760 Neighboring gene uncharacterized LOC124902907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4318 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:29091715-29092914 Neighboring gene MPRA-validated peak1642 silencer Neighboring gene uncharacterized LOC101928735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:29194325-29195524

Genomic regions, transcripts, and products

General gene information

Other Names

  • Neanderthal introgressed variant-containing enhancer experimental_27720
  • Neanderthal introgressed variant-containing enhancer experimental_27723

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_231510.1 

    Range
    101..420
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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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    28582618..28582937
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    28455064..28455383
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    GenBank, FASTA, Sequence Viewer (Graphics)