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LOC126861771 MED14-independent group 3 enhancer GRCh37_chr13:48646101-48647300 [ Homo sapiens (human) ]

Gene ID: 126861771, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126861771
Gene description
MED14-independent group 3 enhancer GRCh37_chr13:48646101-48647300
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 histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

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See LOC126861771 in Genome Data Viewer
Location:
chromosome: 13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (48071965..48073164)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (47292345..47293544)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48646101..48647300)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5330 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48575750-48576949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:48577621-48578218 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:48578817-48579414 Neighboring gene SUCLA2 antisense RNA 1 Neighboring gene uncharacterized LOC124903172 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:48610990-48611866 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:48611867-48612742 Neighboring gene nudix hydrolase 15 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:48640162-48641361 Neighboring gene MED4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5997 Neighboring gene mediator complex subunit 4 Neighboring gene uncharacterized LOC105370198 Neighboring gene RNA polymerase II subunit K pseudogene 2

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 hESC enhancer GRCh37_chr13:48646432-48646932

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_086269.1 

    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    48071965..48073164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    47292345..47293544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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