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LOC121740738 Sharpr-MPRA regulatory region 6053 [ Homo sapiens (human) ]

Gene ID: 121740738, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740738
Gene description
Sharpr-MPRA regulatory region 6053
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 3:PromF, promoter flanking). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC121740738 in Genome Data Viewer
Location:
9p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (2621329..2621623)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (2624096..2624390)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (2621329..2621623)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375955 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:2361801-2363000 Neighboring gene uncharacterized LOC101930053 Neighboring gene uncharacterized LOC105375956 Neighboring gene Sharpr-MPRA regulatory region 8982 Neighboring gene NANOG hESC enhancer GRCh37_chr9:2548993-2549494 Neighboring gene VLDLR antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19737 Neighboring gene uncharacterized LOC105375957 Neighboring gene very low density lipoprotein receptor Neighboring gene NANOG hESC enhancer GRCh37_chr9:2677398-2677906 Neighboring gene Sharpr-MPRA regulatory region 5035 Neighboring gene potassium voltage-gated channel modifier subfamily V member 2

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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 19732

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_075800.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    2621329..2621623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    2624096..2624390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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