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LOC125424402 Sharpr-MPRA regulatory region 13977 [ Homo sapiens (human) ]

Gene ID: 125424402, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125424402
Gene description
Sharpr-MPRA regulatory region 13977
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 DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [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 (25404082..25404376)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25865229..25865523)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda like polypeptide 3, pseudogene Neighboring gene PHF10 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25755899-25756398 Neighboring gene LDL receptor related protein 5 like (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25762910-25763736 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25779301-25779807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25781664-25782640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25788119-25789018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25789019-25789917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25794389-25794888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13559 Neighboring gene uncharacterized LOC124905095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25826942-25827442 Neighboring gene uncharacterized LOC124905093

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_081137.1 

    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
    25404082..25404376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    25865229..25865523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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