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LOC123881353 Sharpr-MPRA regulatory region 4567 [ Homo sapiens (human) ]

Gene ID: 123881353, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123881353
Gene description
Sharpr-MPRA regulatory region 4567
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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Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (158762857..158763151)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160008056..160008350)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159183889..159184183)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:159065146-159066089 Neighboring gene dynein light chain Tctex-type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17742 Neighboring gene synaptotagmin like 3 Neighboring gene MPRA-validated peak6273 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:159128779-159129410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:159129411-159130042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25360 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:159141094-159142293 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:159151193-159152392 Neighboring gene AMZ2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:159176343-159176927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:159180075-159180750 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:159192487-159192693 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:159193631-159194830 Neighboring gene microRNA 3918 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:159205226-159206425 Neighboring gene ezrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17745 Neighboring gene EZR antisense RNA 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

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_078258.1 

    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
    158762857..158763151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    160008056..160008350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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