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LOC112935953 MED14-independent group 3 enhancer GRCh37_chr3:58147281-58148480 [ Homo sapiens (human) ]

Gene ID: 112935953, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112935953
Gene description
MED14-independent group 3 enhancer GRCh37_chr3:58147281-58148480
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells, where it was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. A subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 17:Gen3', transcription 3' end of genes, highly expressed; more exonic) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in K562 cells. [provided by RefSeq, Jun 2023]
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Genomic context

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Location:
3p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58161554..58162753)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58202011..58203210)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58147489..58147783)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57944346-57944927 Neighboring gene peptidylprolyl isomerase A pseudogene 16 Neighboring gene uncharacterized LOC105377104 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined mid-level expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57946764-57947718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57947719-57948671 Neighboring gene Sharpr-MPRA regulatory region 380 Neighboring gene uncharacterized LOC124909385 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57958837-57959340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57959341-57959842 Neighboring gene PPIAP16-FLNB intergenic CAGE-defined low expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57983544-57984119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:57999317-57999817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57999844-58000357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58000358-58000870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58000871-58001384 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58005500-58006482 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58006483-58007463 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58007464-58008445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58020595-58021094 Neighboring gene filamin B Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58023882-58024382 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58025201-58025780 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58027143-58027657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58028173-58028686 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:58034417-58035616 Neighboring gene Sharpr-MPRA regulatory region 2534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58040937-58041474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58051153-58052030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14485 Neighboring gene Sharpr-MPRA regulatory region 3708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58149790-58150603 Neighboring gene Sharpr-MPRA regulatory region 1271 Neighboring gene uncharacterized LOC124909485 Neighboring gene FLNB antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20000 Neighboring gene uncharacterized LOC124909386

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. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, Free PMC Article
  2. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  3. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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)

General gene information

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Other Names

  • ReSE screen-validated silencer GRCh37_chr3:58147356-58147553
  • Sharpr-MPRA regulatory region 12305

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_061467.2 

    Range
    101..1300
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    58161554..58162753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    58202011..58203210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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