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LOC121725014 Sharpr-MPRA regulatory region 13734 [ Homo sapiens (human) ]

Gene ID: 121725014, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725014
Gene description
Sharpr-MPRA regulatory region 13734
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 non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40084697..40084991)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39954125..39954419)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40550369..40550663)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MFSD2 lysolipid transporter A, lysophospholipid Neighboring gene ribosomal protein S2 pseudogene 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40446045-40446898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 718 Neighboring gene uncharacterized LOC105378669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 824 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40505419-40506052 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40506053-40506687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40518723-40519222 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:40524580-40525341 Neighboring gene cyclase associated actin cytoskeleton regulatory protein 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:40535511-40536710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 720 Neighboring gene palmitoyl-protein thioesterase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40598557-40599056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 830 Neighboring gene uncharacterized LOC105378671 Neighboring gene OAZ1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 721 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:40625521-40625722 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40626731-40627347

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_075484.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    40084697..40084991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    39954125..39954419
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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