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LOC124500668 Sharpr-MPRA regulatory region 10780 [ Homo sapiens (human) ]

Gene ID: 124500668, updated on 12-Sep-2024

Summary

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Gene symbol
LOC124500668
Gene description
Sharpr-MPRA regulatory region 10780
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. Another subregion was validated as a repressive element 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 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC124500668 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 (65383340..65384072)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65376659..65377395)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65150811..65151543)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65104413-65104913 Neighboring gene double PHD fingers 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3521 Neighboring gene Sharpr-MPRA regulatory region 3865 Neighboring gene tigger transposable element derived 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65144096-65144596 Neighboring gene FERM domain containing 8 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65149420-65150619 Neighboring gene solute carrier family 25 member 45 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65153824-65154412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65156452-65157086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65160023-65160609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65167805-65168690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65171719-65172218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4958 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65187227-65187812 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65188260-65189459 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:65189569-65190154 and GRCh37_chr11:65190155-65190740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4968 Neighboring gene Sharpr-MPRA regulatory region 4367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4969 Neighboring gene nuclear paraspeckle assembly transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65210919-65211744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65211745-65212569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4973 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65222520-65222823 Neighboring gene microRNA 612 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:65226769-65227414 Neighboring gene FAU pseudogene 4

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K4me1 hESC enhancer GRCh37_chr11:65150811-65151337

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_079325.2 

    Range
    101..833
    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
    65383340..65384072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65376659..65377395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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