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LOC116276448 CRISPRi-validated cis-regulatory element chr16.1337 [ Homo sapiens (human) ]

Gene ID: 116276448, updated on 10-Dec-2024

Summary

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Gene symbol
LOC116276448
Gene description
CRISPRi-validated cis-regulatory element chr16.1337
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 CPPED1 (calcineurin like phosphoesterase domain containing 1) gene on chromosome 16 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 LOC116276448 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (12612606..12612985)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (12649620..12649998)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (12706463..12706842)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene sorting nexin 29 Neighboring gene uncharacterized LOC124903644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:12612096-12612755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12616566-12617066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12620609-12621109 Neighboring gene uncharacterized LOC105371085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12685995-12686514 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:12707003-12708202 Neighboring gene Sharpr-MPRA regulatory region 11276 Neighboring gene uncharacterized LOC105371088 Neighboring gene Sharpr-MPRA regulatory region 10358 Neighboring gene calcineurin like phosphoesterase domain containing 1 Neighboring gene microRNA 4718

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_066999.1 

    Range
    101..480
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    12612606..12612985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    12649620..12649998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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