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LOC112577596 Sharpr-MPRA regulatory region 3933 [ Homo sapiens (human) ]

Gene ID: 112577596, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577596
Gene description
Sharpr-MPRA regulatory region 3933
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 1:Tss). This locus also represents an accessible chromatin region 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:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (38859302..38860061)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (38726538..38727297)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39325369..39325663)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378658 Neighboring gene CRISPRi-validated cis-regulatory element chr1.5052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38995999-38996641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:39021300-39022499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39025118-39025733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39034058-39034665 Neighboring gene MPRA-validated peak186 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39065535-39066150 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:39066151-39066766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39073721-39074510 Neighboring gene uncharacterized LOC105378660 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39165731-39165950 Neighboring gene VISTA enhancer hs1031 Neighboring gene HSPA5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39206875-39207549 Neighboring gene Sharpr-MPRA regulatory region 12321 Neighboring gene NANOG hESC enhancer GRCh37_chr1:39212546-39213129 Neighboring gene VISTA enhancer hs1139 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:39253877-39254442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39281537-39282038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39282039-39282538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 688 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39285036-39285203 Neighboring gene GJA9-MYCBP readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39338054-39338576 Neighboring gene Ras related GTP binding C Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39345299-39345483 Neighboring gene RRAGC divergent transcript Neighboring gene MYC binding protein Neighboring gene gap junction protein alpha 9

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 689

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_060528.2 

    Range
    101..860
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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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    38859302..38860061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    38726538..38727297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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