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LOC126862861 MED14-independent group 3 enhancer GRCh37_chr19:13050707-13051906 [ Homo sapiens (human) ]

Gene ID: 126862861, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126862861
Gene description
MED14-independent group 3 enhancer GRCh37_chr19:13050707-13051906
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 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 an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Dec 2022]
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Genomic context

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See LOC126862861 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12939893..12941092)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13064381..13065580)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13050707..13051906)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene microRNA 5695 Neighboring gene phenylalanyl-tRNA synthetase subunit alpha Neighboring gene FARSA antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14093 Neighboring gene Sharpr-MPRA regulatory region 7930 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13045760-13045865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14096 Neighboring gene CRISPRi-FlowFISH-validated RAD23A regulatory element 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13049721-13050470 Neighboring gene microRNA 6515 Neighboring gene calreticulin Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13056454-13057146 Neighboring gene Sharpr-MPRA regulatory region 11818 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13058093-13059292 Neighboring gene RAD23 homolog A, nucleotide excision repair protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:13063321-13064520 Neighboring gene GADD45G interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13067513-13068385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13079936-13080539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13080540-13081142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13085246-13085752 Neighboring gene DAN domain BMP antagonist family member 5

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. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13051243-13051870

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_087358.1 

    Range
    101..1300
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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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12939893..12941092
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    13064381..13065580
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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