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LOC115945200 CRISPRi-validated cis-regulatory element chr2.5074 [ Homo sapiens (human) ]

Gene ID: 115945200, updated on 12-Sep-2024

Summary

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Gene symbol
LOC115945200
Gene description
CRISPRi-validated cis-regulatory element chr2.5074
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 cis-regulatory element for the FMNL2 (formin like 2) gene on chromosome 2 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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See LOC115945200 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (151760261..151760750)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (152212004..152212493)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (152616775..152617264)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152266026-152266724 Neighboring gene replication timing regulatory factor 1 Neighboring gene uncharacterized LOC124906081 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 Neighboring gene nebulin Neighboring gene Sharpr-MPRA regulatory region 15124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152560612-152561164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12007 Neighboring gene NEB-ARL5A intergenic CAGE-defined B cell enhancer Neighboring gene Sharpr-MPRA regulatory region 4301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12008 Neighboring gene ARF like GTPase 5A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152731461-152732134 Neighboring gene calcium voltage-gated channel auxiliary subunit beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:152770214-152770417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152771361-152771862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152835433-152835977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152857391-152857891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16642 Neighboring gene NANOG hESC enhancer GRCh37_chr2:152890844-152891419 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:152906636-152907257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152910243-152910744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12010

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_066572.1 

    Range
    101..590
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    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    151760261..151760750
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    152212004..152212493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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