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LOC125146382 Sharpr-MPRA regulatory region 1734 [ Homo sapiens (human) ]

Gene ID: 125146382, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125146382
Gene description
Sharpr-MPRA regulatory region 1734
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 19:H4K20, transcription, primarily H4K20me1, more intronic). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3872039..3872702)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3899249..3899912)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3746221-3746721 Neighboring gene TNF receptor associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3763763-3764271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7139 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3781718-3781878 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3786759-3787446 Neighboring gene CREB binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3872073-3872574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3872575-3873074 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3909888-3910072 Neighboring gene Sharpr-MPRA regulatory region 6998 Neighboring gene DPPA3 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7142 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3930393-3930969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4011545-4012044 Neighboring gene long intergenic non-protein coding RNA 2861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4031926-4032449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4032450-4032972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4037243-4037742 Neighboring gene uncharacterized LOC124903633 Neighboring gene adenylate cyclase 9

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3922040-3922575

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_080311.2 

    Range
    101..764
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    3872039..3872702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    3899249..3899912
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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