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LOC126806124 MED14-independent group 3 enhancer GRCh37_chr2:8226605-8227804 [ Homo sapiens (human) ]

Gene ID: 126806124, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806124
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:8226605-8227804
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. This sequence 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. [provided by RefSeq, Sep 2022]
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Genomic context

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Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (8086475..8087674)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (8110476..8111677)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373409 Neighboring gene uncharacterized LOC101929551 Neighboring gene long intergenic non-protein coding RNA 298 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:8098775-8098955 Neighboring gene uncharacterized LOC124907727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8160164-8160664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8160665-8161165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8168595-8169096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8169097-8169596 Neighboring gene long intergenic non-protein coding RNA 299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8289994-8290494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8290495-8290995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8299141-8299642 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:8299609-8299785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8329342-8329842 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:8333701-8334276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15252 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8393901-8394772 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:8403947-8404533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8417861-8418362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8421562-8422062 Neighboring gene NANOG hESC enhancer GRCh37_chr2:8440800-8441356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8532754-8533299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8580531-8581030 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:8587230-8588429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8635675-8636175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11124 Neighboring gene CRISPRi-validated cis-regulatory element chr2.183 Neighboring gene CRISPRi-validated cis-regulatory element chr2.184 Neighboring gene CRISPRi-validated cis-regulatory element chr2.185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8683848-8684354 Neighboring gene Sharpr-MPRA regulatory region 11674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8684355-8684861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8712051-8712630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15272 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8723860-8724539 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:8724540-8725218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:8727462-8728114 Neighboring gene long intergenic non-protein coding RNA 1814 Neighboring gene uncharacterized LOC105373411 Neighboring gene SNRPE pseudogene 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

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

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_082448.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    8086475..8087674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    8110476..8111677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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