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LOC121838575 Sharpr-MPRA regulatory region 8262 [ Homo sapiens (human) ]

Gene ID: 121838575, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121838575
Gene description
Sharpr-MPRA regulatory region 8262
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 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 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). This region also displayed repressive activity by Sharpr-MPRA in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
13q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50636073..50636367)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49850985..49851279)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51210209..51210503)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene deleted in lymphocytic leukemia 1 Neighboring gene Sharpr-MPRA regulatory region 6827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50952541-50953137 Neighboring gene ribosomal protein L34 pseudogene 26 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 Neighboring gene DLEU1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7762 Neighboring gene uncharacterized LOC107984568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7766 Neighboring gene deleted in lymphocytic leukemia 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7768 Neighboring gene DLEU7 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 28

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_075938.1 

    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    50636073..50636367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    49850985..49851279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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