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LOC115945154 CRISPRi-validated cis-regulatory element chr2.1554 [ Homo sapiens (human) ]

Gene ID: 115945154, updated on 10-Oct-2023

Summary

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Gene symbol
LOC115945154
Gene description
CRISPRi-validated cis-regulatory element chr2.1554
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 SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1) gene on chromosome 2, and also at lower confidence for the SRSF7 (serine and arginine rich splicing factor 7) gene, 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:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (39150111..39150496)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (39159066..39159451)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39377252..39377637)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SOS Ras/Rac guanine nucleotide exchange factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11383 Neighboring gene RNA, U6 small nuclear 198, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:39337207-39337706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11384 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15615 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1553 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39376789-39377290 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:39378016-39378184 Neighboring gene Sharpr-MPRA regulatory region 10874 Neighboring gene MPRA-validated peak3670 silencer Neighboring gene cyclin dependent kinase like 4 Neighboring gene NANOG hESC enhancer GRCh37_chr2:39446895-39447396 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:39547717-39548636 Neighboring gene MPRA-validated peak3671 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:39591272-39591838 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:39591839-39592405 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:39592406-39592972 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:39596426-39596599 Neighboring gene RNA, U6 small nuclear 1341, pseudogene

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_066554.1 

    Range
    101..486
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    39150111..39150496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    39159066..39159451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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