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LOC126859765 MED14-independent group 3 enhancer GRCh37_chr6:111886439-111887638 [ Homo sapiens (human) ]

Gene ID: 126859765, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126859765
Gene description
MED14-independent group 3 enhancer GRCh37_chr6:111886439-111887638
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 (MPRA) 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. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC126859765 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (111565236..111566435)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (112748236..112749435)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TRAF3IP2 antisense RNA 1 Neighboring gene uncharacterized LOC107986520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111828147-111828670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111828671-111829193 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87727 Neighboring gene uncharacterized LOC107986522 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:111861530-111861704 Neighboring gene VISTA enhancer hs1690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:111880567-111881066 Neighboring gene MPRA-validated peak6037 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111885602-111886274 Neighboring gene TRAF3 interacting protein 2 Neighboring gene TRAF3IP2 eExon liver enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:111928045-111928677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111941387-111941922 Neighboring gene MPRA-validated peak6038 silencer Neighboring gene uncharacterized LOC105377944 Neighboring gene Sharpr-MPRA regulatory region 7524 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111982565-111983248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111983249-111983930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111983931-111984612 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:111998453-111999376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:112003973-112004474 Neighboring gene uncharacterized LOC105377945 Neighboring gene FYN proto-oncogene, Src family tyrosine kinase

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 24948

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_084266.1 

    Range
    101..1300
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    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    111565236..111566435
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    112748236..112749435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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