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LOC112577455 Sharpr-MPRA regulatory region 13171 [ Homo sapiens (human) ]

Gene ID: 112577455, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577455
Gene description
Sharpr-MPRA regulatory region 13171
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 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Jun 2018]
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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 (6806558..6806852)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6795904..6796198)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6806569..6806863)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6760841-6761341 Neighboring gene thyroid hormone receptor interactor 10 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6764936-6765836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6772949-6773449 Neighboring gene SH2 domain containing 3A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13864 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:6782716-6782888 Neighboring gene MPRA-validated peak3307 silencer Neighboring gene vav guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6801723-6802243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13867 Neighboring gene MPRA-validated peak3310 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13868 Neighboring gene uncharacterized LOC105372256 Neighboring gene adhesion G protein-coupled receptor E1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13869 Neighboring gene adhesion G protein-coupled receptor E4, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9970

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_059899.1 

    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
    6806558..6806852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    6795904..6796198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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