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LOC116186937 CRISPRi-validated cis-regulatory element chr9.764 [ Homo sapiens (human) ]

Gene ID: 116186937, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116186937
Gene description
CRISPRi-validated cis-regulatory element chr9.764
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 represents a DNase I hypersensitive site (DHS) that was predicted to be an enhancer by the ENCODE (ENCyclopedia Of DNA Elements) project based on various combinations of H3K27 acetylation and binding of p300, GATA1 and RNA polymerase II in K562 erythroleukemia cells. It was validated as a high-confidence cis-regulatory element for the FXN (frataxin) gene on chromosome 9 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Nov 2019]
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Genomic context

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Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (69020566..69021071)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (81194121..81194626)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71635482..71635987)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 beta Neighboring gene uncharacterized LOC101927069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28443 Neighboring gene Sharpr-MPRA regulatory region 10428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28445 Neighboring gene Sharpr-MPRA regulatory region 187 Neighboring gene Friedreich ataxia repeat instability region Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:71660286-71661281 Neighboring gene Sharpr-MPRA regulatory region 4997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71669749-71670250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71670251-71670750 Neighboring gene protein kinase cAMP-activated catalytic subunit gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71681521-71682120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:71683371-71683870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:71703383-71703883 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71705161-71706130 Neighboring gene frataxin Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71731558-71732058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71732059-71732559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71735458-71736416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71745576-71746105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28446 Neighboring gene uncharacterized LOC124902175 Neighboring gene tight junction protein 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. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Gasperini M, et al. Cell, 2019 Jan 10. PMID 30612741, Free PMC Article
  2. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, Free PMC Article
  3. The accessible chromatin landscape of the human genome. Thurman RE, et al. Nature, 2012 Sep 6. PMID 22955617, 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)

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_066857.1 

    Range
    101..606
    Download
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    69020566..69021071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    81194121..81194626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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