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LOC122056813 Sharpr-MPRA regulatory region 6936 [ Homo sapiens (human) ]

Gene ID: 122056813, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122056813
Gene description
Sharpr-MPRA regulatory region 6936
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 the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122056813 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27625158..27625452)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27466461..27466755)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27951669..27951963)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27849319-27849901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27851813-27852451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27855359-27856073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27864051-27864652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869009-27869527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869528-27870045 Neighboring gene AT-hook DNA binding motif containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27881926-27882481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27889385-27890112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27907956-27908485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27918399-27918972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27919547-27920120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27920121-27920694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922307-27922832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922833-27923358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27924447-27925402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27925403-27926360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27926361-27927316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27928027-27928623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 524 Neighboring gene Sharpr-MPRA regulatory region 12291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27939571-27940071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27941009-27941556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27950023-27950844 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27958413-27958913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 565 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27977663-27978629 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27981022-27981424 Neighboring gene uncharacterized LOC729973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27985747-27986247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27988849-27989364 Neighboring gene long intergenic non-protein coding RNA 2574

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

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)

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_076269.1 

    Range
    101..395
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    27625158..27625452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    27466461..27466755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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