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LOC121627850 Sharpr-MPRA regulatory region 7851 [ Homo sapiens (human) ]

Gene ID: 121627850, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627850
Gene description
Sharpr-MPRA regulatory region 7851
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. It was validated as a functional enhancer by the Sharpr-MPRA technique (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 17:Gen3', transcription 3' end of genes, highly expressed, more exonic) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4556737..4557031)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4540421..4540715)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4556749..4557043)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene perilipin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4534387-4534942 Neighboring gene leucine rich alpha-2-glycoprotein 1 Neighboring gene semaphorin 6B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4567569-4568069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4575301-4575893 Neighboring gene uncharacterized LOC105372249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9894 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4596181-4596372 Neighboring gene Sharpr-MPRA regulatory region 4167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4606740-4607298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4607299-4607856 Neighboring gene MPRA-validated peak3284 silencer Neighboring gene ribosomal protein S10 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. 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

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)

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_075041.1 

    Range
    101..395
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    4556737..4557031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    4540421..4540715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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