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LOC116183079 CRISPRi-validated cis-regulatory element chr7.493 [ Homo sapiens (human) ]

Gene ID: 116183079, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116183079
Gene description
CRISPRi-validated cis-regulatory element chr7.493
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 CHST12 (carbohydrate sulfotransferase 12) gene on chromosome 7 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Oct 2019]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2399903..2400590)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2513318..2514005)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2439538..2440225)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene kinesin family member 19B, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2429085-2429981 Neighboring gene NGRN pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25532 Neighboring gene carbohydrate sulfotransferase 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2471770-2472662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2472663-2473554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2482261-2482761 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2488098-2488281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2490871-2491526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2491527-2492180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2510727-2511330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2513557-2514102 Neighboring gene galectin-related inter-fiber protein

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
  4. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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_066809.1 

    Range
    101..788
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    2399903..2400590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2513318..2514005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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