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LOC121838602 Sharpr-MPRA regulatory region 8463 [ Homo sapiens (human) ]

Gene ID: 121838602, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121838602
Gene description
Sharpr-MPRA regulatory region 8463
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121838602 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103879952..103880787)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98116041..98116876)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104346289..104346583)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 13B Neighboring gene small nucleolar RNA SNORD51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6179 Neighboring gene PPP1R13B divergent transcript Neighboring gene uncharacterized LOC105370689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104347808-104348489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104377123-104377623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104387521-104388196 Neighboring gene ATP synthase membrane subunit j Neighboring gene tudor domain containing 9 Neighboring gene RD3 like

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_chr14:104346442-104347124

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_075965.2 

    Range
    101..936
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    103879952..103880787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    98116041..98116876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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