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LOC128462416 CRISPRi-FlowFISH-validated ICOSLG and IFNGR2 regulatory element GRCh37_chr21:45660637-45661636 [ Homo sapiens (human) ]

Gene ID: 128462416, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128462416
Gene description
CRISPRi-FlowFISH-validated ICOSLG and IFNGR2 regulatory element GRCh37_chr21:45660637-45661636
Gene type
biological region
Feature type(s)
regulatory: 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, which includes the 5' end of the ICOSLG (inducible T cell costimulator ligand) gene, was predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. It was validated as a positively-acting cis-regulatory element for both ICOSLG and IFNGR2 (interferon gamma receptor 2) based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in GM12878 lymphoblastoid cells. The IFNGR2 target gene is located in a chromosome 21q22 interferon receptor gene cluster that represents a susceptibility locus for severe coronavirus disease 2019 (COVID-19). Two subregions were additionally validated as ICOSLG positively-acting elements by CRISPRi-FlowFISH in either anti-CD40- and anti-IgM-stimulated BJAB lymphoma cells, or THP-1 monocytic cells. [provided by RefSeq, Apr 2023]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

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See LOC128462416 in Genome Data Viewer
Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44240754..44241753)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42594819..42595818)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45595498-45596144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45596145-45596790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45600775-45601276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45601277-45601776 Neighboring gene CRISPRi-FlowFISH-validated ICOSLG regulatory elements GRCh37_chr21:45616066-45616566 to GRCh37_chr21:45616069-45616569 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45616946-45617124 Neighboring gene uncharacterized LOC105372832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45621734-45622497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45622498-45623260 Neighboring gene uncharacterized LOC102725065 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45626388-45627587 Neighboring gene CRISPRi-FlowFISH-validated ICOSLG regulatory elements GRCh37_chr21:45627759-45628259 and GRCh37_chr21:45627787-45628287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45628433-45629348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45633361-45633860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45642723-45643224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45643225-45643724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45645682-45646182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45646183-45646683 Neighboring gene inducible T cell costimulator ligand Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45659303-45660081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45662586-45663124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45667417-45668358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45669258-45669773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45669774-45670290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45670291-45670805 Neighboring gene DNMT3L antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45676001-45676989 Neighboring gene DNA methyltransferase 3 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45677884-45678384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45681495-45682054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45685919-45686548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45686549-45687178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45691192-45691798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18564 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:45702827-45703430 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45703431-45704032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45704033-45704636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45704637-45705238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18567 Neighboring gene autoimmune regulator

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. Genome-wide enhancer maps link risk variants to disease genes. Nasser J, et al. Nature, 2021 May. PMID 33828297, 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

General gene information

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Other Names

  • CRISPRi-FlowFISH-validated ICOSLG regulatory element GRCh37_chr21:45660637-45661552
  • CRISPRi-FlowFISH-validated ICOSLG regulatory element GRCh37_chr21:45660637-45661561
  • CRISPRi-FlowFISH-validated ICOSLG regulatory element GRCh37_chr21:45660637-45661636
  • CRISPRi-FlowFISH-validated IFNGR2 regulatory element GRCh37_chr21:45660637-45661636

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_149604.1 

    Range
    101..1100
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44240754..44241753
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    42594819..42595818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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