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LOC112695096 Sharpr-MPRA regulatory region 1401 [ Homo sapiens (human) ]

Gene ID: 112695096, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112695096
Gene description
Sharpr-MPRA regulatory region 1401
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 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 non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). 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:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40711605..40711899)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41183570..41183864)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41107609..41107903)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41072002-41072502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41075515-41076208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41076631-41077585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41077586-41078539 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 Neighboring gene Sharpr-MPRA regulatory regions 5578 and 9058 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41079701-41080396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41080397-41081092 Neighboring gene melanin concentrating hormone receptor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41107927-41108443 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41109407-41110282 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41110283-41111157 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41111979-41112145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41117878-41118491 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41124025-41124749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41124750-41125473 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41127319-41127477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13774 Neighboring gene solute carrier family 25 member 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41178069-41178568 Neighboring gene RFK pseudogene 4 Neighboring gene jumping translocation breakpoint pseudogene 1

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 13773

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_060874.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    40711605..40711899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    41183570..41183864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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