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LOC121529660 Sharpr-MPRA regulatory region 3976 [ Homo sapiens (human) ]

Gene ID: 121529660, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121529660
Gene description
Sharpr-MPRA regulatory region 3976
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 (MPRA) in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as an enhancer 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 Activating non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104815212..104816228)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99061049..99062065)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105281549..105281843)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723342 Neighboring gene AKT serine/threonine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105257987-105258628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105259269-105259910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105259911-105260550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105260551-105261192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105263234-105264006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105264007-105264779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105270463-105270962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105271135-105271884 Neighboring gene zinc finger and BTB domain containing 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105288569-105289200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6204 Neighboring gene VEGFC mRNA stability associated lncRNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105293203-105293988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105293989-105294774 Neighboring gene ribosomal protein S26 pseudogene 49

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. 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
  3. 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

  • ATAC-STARR-seq lymphoblastoid silent region 6203
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105281576-105282565

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_074772.2 

    Range
    101..1117
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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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    104815212..104816228
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99061049..99062065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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