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LOC123497967 Sharpr-MPRA regulatory region 5338 [ Homo sapiens (human) ]

Gene ID: 123497967, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123497967
Gene description
Sharpr-MPRA regulatory region 5338
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. 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 HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 15:Elon, transcription elongation, stronger H3K36me3, more exonic). 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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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131536496..131536790)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132056434..132056728)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (130872189..130872483)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23044 Neighboring gene CDC42 small effector 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:130600208-130601025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130647474-130648282 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130672926-130674125 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130689616-130689914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130696972-130697526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130697527-130698081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23053 Neighboring gene uncharacterized LOC105379173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23054 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130744412-130744593 Neighboring gene Rap guanine nucleotide exchange factor 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130970112-130970694 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130970824-130972023 Neighboring gene folliculin interacting protein 1 Neighboring gene ACTB pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16309 Neighboring gene meiotic kinetochore factor Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:131267911-131268464

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 23055

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_077818.1 

    Range
    101..395
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    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
    131536496..131536790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    132056434..132056728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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