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LOC113939916 Sharpr-MPRA regulatory region 3429 [ Homo sapiens (human) ]

Gene ID: 113939916, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113939916
Gene description
Sharpr-MPRA regulatory region 3429
Gene type
biological region
Feature type(s)
regulatory: 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. It was validated as a functional repressive element 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 Repressive DNase matched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2019]
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Genomic context

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Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49606983..49607277)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50455789..50456083)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50815029..50815323)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ERCC excision repair 6, chromatin remodeling factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3352 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50745676-50745864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3354 Neighboring gene piggyBac transposable element derived 3 Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801171-50801672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801673-50802172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50802781-50803282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50803283-50803782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50816693-50817488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50817489-50818283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50819328-50820224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50820225-50821122 Neighboring gene solute carrier family 18 member A3 Neighboring gene choline O-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856078-50856929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856930-50857780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50858633-50859483 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:50897886-50898488 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:50898489-50899090 Neighboring gene chromosome 10 open reading frame 53

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_063702.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    49606983..49607277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    50455789..50456083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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