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LOC112552159 Sharpr-MPRA regulatory region 13779 [ Homo sapiens (human) ]

Gene ID: 112552159, updated on 4-Mar-2025

Summary

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Gene symbol
LOC112552159
Gene description
Sharpr-MPRA regulatory region 13779
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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). [provided by RefSeq, Jun 2018]
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Genomic context

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See LOC112552159 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45424351..45424645)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48251598..48251892)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45927609..45927903)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 13 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45894822-45895340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45895341-45895857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45901839-45902837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45908213-45909008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14794 Neighboring gene RNA polymerase I subunit G Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45923066-45923566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45943151-45943650 Neighboring gene microRNA 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45958106-45959072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45959073-45960039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45967946-45968446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45968447-45968947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45971355-45972256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14799 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit

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_059293.1 

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

    Range
    45424351..45424645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48251598..48251892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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