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LOC125371470 Sharpr-MPRA regulatory region 3488 [ Homo sapiens (human) ]

Gene ID: 125371470, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371470
Gene description
Sharpr-MPRA regulatory region 3488
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 matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, May 2022]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8158565..8158859)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8159649..8159943)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine ligand 25 Neighboring gene fibrillin 3 Neighboring gene MPRA-validated peak3327 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8175802-8176302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8180417-8180917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8183744-8184561 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185348-8185938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185939-8186529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8193691-8194192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8206295-8206796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8208101-8208645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8211691-8212662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8212663-8213633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8226075-8226576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8228221-8229026 Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260104-8260957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260958-8261810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8268618-8269588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8280063-8280564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8285012-8285518 Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282

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_080740.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    8158565..8158859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    8159649..8159943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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