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LOC124188247 Sharpr-MPRA regulatory region 5026 [ Homo sapiens (human) ]

Gene ID: 124188247, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124188247
Gene description
Sharpr-MPRA regulatory region 5026
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. 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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - 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:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143902501..143902795)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145060780..145061074)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144976669..144976963)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144923032-144923762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144923763-144924492 Neighboring gene nuclear receptor binding protein 2 Neighboring gene microRNA 6845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:144939917-144940418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:144940419-144940918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144948081-144948772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144949483-144950125 Neighboring gene epiplakin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144953345-144953987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144959005-144959528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144959529-144960052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144964657-144965548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144965549-144966440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144977006-144977576 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144990280-144990475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144999476-145000347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28075 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145002644-145002773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145006382-145007317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28077 Neighboring gene plectin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28079 Neighboring gene Sharpr-MPRA regulatory region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19634 Neighboring gene uncharacterized LOC124902040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145020877-145021664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145021665-145022452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145024027-145024814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145031501-145032404 Neighboring gene microRNA 661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145038963-145039740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145039741-145040518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145040519-145041295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145046021-145046870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145046871-145047718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19643 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145050844-145051005 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145051354-145051848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145060401-145061304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19648 Neighboring gene Sharpr-MPRA regulatory region 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145065969-145066470 Neighboring gene poly(ADP-ribose) polymerase family member 10 Neighboring gene glutamate ionotropic receptor NMDA type subunit associated protein 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 19627

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_078722.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    143902501..143902795
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145060780..145061074
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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