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LOC124153113 Sharpr-MPRA regulatory region 9839 [ Homo sapiens (human) ]

Gene ID: 124153113, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124153113
Gene description
Sharpr-MPRA regulatory region 9839
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive DNase matched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 1:Tss). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17923200..17923494)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (18190690..18190984)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17780709..17781003)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene fibrinogen like 1 Neighboring gene endogenous retrovirus group K member 25 Env polyprotein-like Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:17769002-17769792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17769793-17770581 Neighboring gene Sharpr-MPRA regulatory region 2266 Neighboring gene uncharacterized LOC124901867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27050 Neighboring gene pericentriolar material 1 Neighboring gene uncharacterized LOC124901894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:17911125-17911698 Neighboring gene N-acylsphingosine amidohydrolase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17942063-17942598 Neighboring gene ASAH1 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_078501.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    17923200..17923494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    18190690..18190984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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