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LOC125446238 Sharpr-MPRA regulatory region 12345 [ Homo sapiens (human) ]

Gene ID: 125446238, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125446238
Gene description
Sharpr-MPRA regulatory region 12345
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 6:EnhF, candidate strong enhancer, flanking open chromatin). [provided by RefSeq, Jun 2022]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40621825..40622119)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (41093785..41094079)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene myocardin related transcription factor A Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 11047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19095 Neighboring gene ribosomal protein L4 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19096 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:41033797-41034996 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:41047623-41048822 Neighboring gene uncharacterized LOC124905122 Neighboring gene CRISPRi-validated cis-regulatory element chr22.2152 Neighboring gene uncharacterized LOC124905123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41060823-41061338 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 37

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

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_081177.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    40621825..40622119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    41093785..41094079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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