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LOC132090622 Neanderthal introgressed variant-containing enhancer experimental_62270 [ Homo sapiens (human) ]

Gene ID: 132090622, updated on 12-Sep-2024

Summary

Gene symbol
LOC132090622
Gene description
Neanderthal introgressed variant-containing enhancer experimental_62270
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 introgressed 22:17557308 variant allele. [provided by RefSeq, Sep 2023]
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Genomic context

See LOC132090622 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17076333..17076502)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17753114..17753283)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17557223..17557392)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 9 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18610 Neighboring gene cat eye syndrome chromosome region, candidate 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62188 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17538919-17539419 Neighboring gene Sharpr-MPRA regulatory region 13635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13432 Neighboring gene interleukin 17 receptor A Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene MPRA-validated peak4440 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18611 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene transmembrane protein 121B

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_231180.1 

    Range
    101..270
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    17076333..17076502
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    17753114..17753283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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