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LOC112552176 Sharpr-MPRA regulatory region 310 [ Homo sapiens (human) ]

Gene ID: 112552176, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112552176
Gene description
Sharpr-MPRA regulatory region 310
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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jun 2018]
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Genomic context

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See LOC112552176 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (5967978..5968272)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (5955427..5955721)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5967989..5968283)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9938 Neighboring gene vimentin type intermediate filament associated coiled-coil protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13818 Neighboring gene RAN binding protein 3 Neighboring gene calcyphosine Neighboring gene ReSE screen-validated silencer GRCh37_chr19:5939785-5939965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5944489-5945129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5952179-5952738 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:5953075-5954274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5957025-5957534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5958162-5958810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5959460-5960108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:5960757-5961406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5962704-5963351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5963485-5964036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:5964037-5964587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9942 Neighboring gene RANBP3 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6015021-6015520 Neighboring gene regulatory factor X2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6018397-6018898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9943 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:6065893-6066394 Neighboring gene ribosomal protein L32 pseudogene 37

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_059310.1 

    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
    5967978..5968272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    5955427..5955721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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