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LOC126863185 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:50743729-50744928 [ Homo sapiens (human) ]

Gene ID: 126863185, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863185
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:50743729-50744928
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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. 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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Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50305300..50306499)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (50813059..50814258)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50697131-50697703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50698428-50698928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50700498-50701229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13964 Neighboring gene mitogen-activated protein kinase 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50710106-50710645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50710646-50711186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13968 Neighboring gene mitogen-activated protein kinase 11 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:50720546-50721745 Neighboring gene plexin B2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50738869-50739425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50739426-50739982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13970 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50745236-50745386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50753063-50753811 Neighboring gene uncharacterized LOC105373096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50755814-50756314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50756315-50756815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50759389-50759889 Neighboring gene DENN domain containing 6B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13975 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50770723-50770912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:50780464-50781110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13978 Neighboring gene protein phosphatase 6 regulatory subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19318 Neighboring gene RNA, 7SL, cytoplasmic 500, pseudogene

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 19313

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_087681.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    50305300..50306499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    50813059..50814258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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