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LOC125048444 Sharpr-MPRA regulatory regions 714 and 744 [ Homo sapiens (human) ]

Gene ID: 125048444, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125048444
Gene description
Sharpr-MPRA regulatory regions 714 and 744
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. Two overlapping subregions were validated as functional repressive elements by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (groups: K562 Repressive non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin, and K562 Repressive non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75147466..75148000)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69356846..69357384)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75535987-75536538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75536539-75537090 Neighboring gene zinc finger C2HC-type containing 1C Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75565767-75565964 Neighboring gene NIMA related kinase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8737 Neighboring gene HIF1AP pseudogene 1 Neighboring gene transmembrane p24 trafficking protein 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75619067-75619731 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75643139-75643711 Neighboring gene RNA, U4atac small nuclear 14, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75687528-75688425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75688426-75689322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75689323-75690220 Neighboring gene CRISPRi-validated cis-regulatory element chr14.1538 Neighboring gene VISTA enhancer hs1657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8740 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:75720649-75721848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75723647-75724146 Neighboring gene VISTA enhancer hs1481 Neighboring gene uncharacterized LOC124903434

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

General gene information

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Other Names

  • Sharpr-MPRA regulatory region 714
  • Sharpr-MPRA regulatory region 744

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_080140.1 

    Range
    101..635
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    75147466..75148000
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    69356846..69357384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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