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LOC123497958 Sharpr-MPRA regulatory region 6110 [ Homo sapiens (human) ]

Gene ID: 123497958, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123497958
Gene description
Sharpr-MPRA regulatory region 6110
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 Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (119356554..119356848)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (119877390..119877684)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (118692249..118692543)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TNF alpha induced protein 8 Neighboring gene RNA, 7SL, cytoplasmic 174, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118664591-118665278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22973 Neighboring gene uncharacterized LOC102723444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22982 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:118726761-118726918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22986 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:118737716-118738284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:118740092-118740592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22987 Neighboring gene Sharpr-MPRA regulatory region 10011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22989 Neighboring gene RNA, 5S ribosomal pseudogene 190 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:118794469-118795121 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:118797267-118797484 Neighboring gene uncharacterized LOC124901215 Neighboring gene hydroxysteroid 17-beta dehydrogenase 4

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 silent region 16266

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_077809.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    119356554..119356848
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    119877390..119877684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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