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LOC121529651 Sharpr-MPRA regulatory region 3354 [ Homo sapiens (human) ]

Gene ID: 121529651, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121529651
Gene description
Sharpr-MPRA regulatory region 3354
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121529651 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (68463632..68463926)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (62670593..62670887)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (68930349..68930643)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RAD51 paralog B Neighboring gene uncharacterized LOC101927971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68863880-68864606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8608 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:68937409-68937942 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:68937943-68938476 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:68942861-68944060 Neighboring gene peptidylprolyl isomerase A pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:68972679-68973242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:68972115-68972678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:68973243-68973806 Neighboring gene VISTA enhancer hs1616 Neighboring gene uncharacterized LOC124903334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68993143-68993664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:68993665-68994185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69006151-69006711 Neighboring gene RAD51B intron CAGE-defined mid-level expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69017510-69018030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69018031-69018551 Neighboring gene uncharacterized LOC124903335

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_074763.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    68463632..68463926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    62670593..62670887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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