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LOC116268471 CRISPRi-validated cis-regulatory element chr15.2230 [ Homo sapiens (human) ]

Gene ID: 116268471, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116268471
Gene description
CRISPRi-validated cis-regulatory element chr15.2230
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 SEMA7A (semaphorin 7A (John Milton Hagen blood group)) gene on chromosome 15 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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See LOC116268471 in Genome Data Viewer
Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74392334..74392888)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72260059..72260613)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74684674..74685228)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 11 subfamily A member 1 Neighboring gene uncharacterized LOC124903524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6646 Neighboring gene CYP11A1 promoter region Neighboring gene peptidylprolyl isomerase A pseudogene 46 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74667008-74667555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74670820-74671320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74675326-74675826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9753 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:74676645-74677844 Neighboring gene long intergenic non-protein coding RNA 2255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74678372-74678912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74678913-74679452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74679453-74679994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74679995-74680534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74680535-74681075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9758 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:74688843-74690042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74692014-74692514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74693783-74694283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74695428-74696393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74701581-74702081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74703990-74704490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74704491-74704991 Neighboring gene semaphorin 7A (JohnMiltonHagen blood group) Neighboring gene microRNA 6881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74713934-74714565 Neighboring gene Sharpr-MPRA regulatory region 521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74715829-74716459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9775 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74734123-74734632 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74734999-74735183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74735145-74735654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:74741828-74742328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74751547-74752066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74752067-74752586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:74752742-74753588 Neighboring gene ubiquitin like 7

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_066986.1 

    Range
    101..655
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    74392334..74392888
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160016.1 Reference GRCh38.p14 PATCHES

    Range
    221603..222157
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    72260059..72260613
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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