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LOC121392917 Sharpr-MPRA regulatory region 11967 [ Homo sapiens (human) ]

Gene ID: 121392917, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121392917
Gene description
Sharpr-MPRA regulatory region 11967
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 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 LOC121392917 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (59171896..59172638)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (59121071..59121813)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58939369..58940111)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene FAM111A divergent transcript Neighboring gene protein kinase cAMP-dependent type II regulatory subunit beta pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4747 Neighboring gene FAM111 trypsin like peptidase A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4749 Neighboring gene basic proline-rich protein-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:58938742-58939282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:58940291-58941119 Neighboring gene uncharacterized LOC124902675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3362 Neighboring gene deltex E3 ubiquitin ligase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3363 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:58967822-58969021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4753 Neighboring gene macrophage expressed 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 3360

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_074574.2 

    Range
    101..843
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    59171896..59172638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    59121071..59121813
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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