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LOC123881348 Sharpr-MPRA regulatory region 4686 [ Homo sapiens (human) ]

Gene ID: 123881348, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123881348
Gene description
Sharpr-MPRA regulatory region 4686
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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123881348 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (157752797..157753091)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (158994821..158995115)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158173829..158174123)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157951781-157952686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157952687-157953591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:157954158-157954658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:157954659-157955159 Neighboring gene MPRA-validated peak6260 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157973253-157974075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157977751-157978536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157982847-157983820 Neighboring gene microRNA 3692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:157993864-157994596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158014227-158014728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158014729-158015228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158037061-158037562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158037563-158038062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158066653-158067153 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:158069048-158070247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158090399-158091006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158091007-158091612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158109923-158110424 Neighboring gene uncharacterized LOC107986663 Neighboring gene NANOG hESC enhancer GRCh37_chr6:158127150-158127715 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:158131630-158132829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158134197-158134698 Neighboring gene uncharacterized LOC124901555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158134699-158135198 Neighboring gene NANOG hESC enhancer GRCh37_chr6:158152966-158153487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:158153745-158154270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:158162257-158162797 Neighboring gene Sharpr-MPRA regulatory region 7014 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:158183852-158185051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25339 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:158251124-158251862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25340 Neighboring gene Sharpr-MPRA regulatory region 12251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17728 Neighboring gene sorting nexin 9 Neighboring gene Sharpr-MPRA regulatory region 15079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17729 Neighboring gene SNX9 antisense RNA 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 26

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_078253.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    157752797..157753091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    158994821..158995115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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