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LOC121853018 Sharpr-MPRA regulatory region 1753 [ Homo sapiens (human) ]

Gene ID: 121853018, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121853018
Gene description
Sharpr-MPRA regulatory region 1753
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 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 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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121853018 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62149493..62150454)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (63940367..63941328)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (60724549..60725510)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:60697043-60697730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60697731-60698419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60698420-60699107 Neighboring gene LSM family member 14B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60708899-60709398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13101 Neighboring gene proteasome 20S subunit alpha 7 Neighboring gene SS18L1 subunit of BAF chromatin remodeling complex Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:60735092-60736291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60736587-60737199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13102 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:60757942-60758126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13103 Neighboring gene mitochondrial ribosome associated GTPase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:60789379-60789879 Neighboring gene histamine receptor H3

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:60724773-60725510

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_076126.2 

    Range
    101..1062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    62149493..62150454
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    63940367..63941328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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