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LOC111822950 Sharpr-MPRA regulatory regions 8431 and 11785 [ Homo sapiens (human) ]

Gene ID: 111822950, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111822950
Gene description
Sharpr-MPRA regulatory regions 8431 and 11785
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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. A subregion was validated as a functional 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 non-DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). An overlapping subregion also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC111822950 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (14310452..14310866)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (14347692..14348106)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14404429..14404723)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14400327-14401012 Neighboring gene MIR193b-365a host gene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:14401013-14401697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10494 Neighboring gene microRNA 193b Neighboring gene microRNA 365a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10495 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:14447139-14447668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:14458211-14458712 Neighboring gene long intergenic non-protein coding RNA 2130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:14466520-14467096 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:14468174-14468349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:14469696-14470196 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:14487195-14487694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:14499557-14500058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10498 Neighboring gene Sharpr-MPRA regulatory region 5329 Neighboring gene long intergenic non-protein coding RNA 3107 Neighboring gene Sharpr-MPRA regulatory region 2182

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 10493
  • Sharpr-MPRA regulatory region 11785
  • Sharpr-MPRA regulatory region 8431

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_056220.2 

    Range
    101..515
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    14310452..14310866
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    14347692..14348106
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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