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LOC122757958 Sharpr-MPRA regulatory region 66 [ Homo sapiens (human) ]

Gene ID: 122757958, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122757958
Gene description
Sharpr-MPRA regulatory region 66
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. A subregion 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 1:Tss, active promoter, TSS/CpG island region). 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 LOC122757958 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (64653695..64654546)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (64663132..64663983)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (64880829..64881123)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:64834681-64835182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:64835183-64835682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11558 Neighboring gene long intergenic non-protein coding RNA 2579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15897 Neighboring gene uncharacterized LOC105374775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:64869352-64870135 Neighboring gene SERTA domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:64870919-64871702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15901 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:64872345-64872515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11561 Neighboring gene uncharacterized LOC124907776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11563 Neighboring gene ribosomal protein S10 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11566 Neighboring gene uncharacterized LOC105374777 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64994771-64995616

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 11562

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_076950.2 

    Range
    101..952
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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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    64653695..64654546
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    64663132..64663983
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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