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LOC123956273 Sharpr-MPRA regulatory region 5889 [ Homo sapiens (human) ]

Gene ID: 123956273, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123956273
Gene description
Sharpr-MPRA regulatory region 5889
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 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jan 2022]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (152395144..152395438)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (153568038..153568332)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (152092229..152092523)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC731075 Neighboring gene Y-box binding protein 1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26876 Neighboring gene lysine methyltransferase 2C Neighboring gene MPRA-validated peak6855 silencer Neighboring gene Sharpr-MPRA regulatory region 15588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26877 Neighboring gene septin 7 pseudogene 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:152091085-152091724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18833 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:152138204-152138404 Neighboring gene fatty acid binding protein 5 pseudogene 3 Neighboring gene chaperonin containing TCP1 subunit 8 like 1, pseudogene

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_078464.1 

    Range
    101..395
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    152395144..152395438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    153568038..153568332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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