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LOC123493309 Sharpr-MPRA regulatory region 6268 [ Homo sapiens (human) ]

Gene ID: 123493309, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123493309
Gene description
Sharpr-MPRA regulatory region 6268
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 HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Nov 2021]
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Genomic context

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See LOC123493309 in Genome Data Viewer
Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56116882..56117176)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (56945312..56945606)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55412709..55413003)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 5314 Neighboring gene IL6ST divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16018 Neighboring gene uncharacterized LOC105378976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:55369795-55370296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22562 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:55375429-55376193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:55378657-55379318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:55385865-55386365 Neighboring gene ankyrin repeat domain 55 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:55418099-55418271 Neighboring gene uncharacterized LOC101928419 Neighboring gene RNA, U6 small nuclear 299, pseudogene Neighboring gene ribosomal protein L17 pseudogene 22

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_077733.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    56116882..56117176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    56945312..56945606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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