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LOC112840936 Sharpr-MPRA regulatory region 4153 [ Homo sapiens (human) ]

Gene ID: 112840936, updated on 10-Dec-2024

Summary

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Gene symbol
LOC112840936
Gene description
Sharpr-MPRA regulatory region 4153
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 non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). 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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See LOC112840936 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (45650950..45651574)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (45655993..45656617)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (45878089..45878713)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45570374-45571192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45571193-45572010 Neighboring gene Sharpr-MPRA regulatory region 15185 Neighboring gene NANOG hESC enhancer GRCh37_chr2:45693107-45693617 Neighboring gene S1 RNA binding domain 1 Neighboring gene Sharpr-MPRA regulatory region 7031 Neighboring gene RNA, 7SL, cytoplasmic 414, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15687 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:45867535-45867711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11438 Neighboring gene uncharacterized LOC102724965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45878872-45879492 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:45899906-45900117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15689 Neighboring gene PRKCE antisense RNA 1 Neighboring gene protein kinase C epsilon Neighboring gene tRNA-Gln (anticodon TTG) 5-1

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 within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. 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 11441

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_061303.2 

    Range
    101..725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    45650950..45651574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    45655993..45656617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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