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LOC124819409 Sharpr-MPRA regulatory region 4817 [ Homo sapiens (human) ]

Gene ID: 124819409, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124819409
Gene description
Sharpr-MPRA regulatory region 4817
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 non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124819409 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (116347204..116347498)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (116328278..116328572)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 13L Neighboring gene NANOG hESC enhancer GRCh37_chr12:116591702-116592247 Neighboring gene microRNA 620 Neighboring gene Sharpr-MPRA regulatory region 4680 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 18 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:116675052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4900 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:116744946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7092 Neighboring gene uncharacterized LOC105370005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4901 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:116806721-116807222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116820714-116821390 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:116864663-116865210 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116865211-116865757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116865758-116866304 Neighboring gene microRNA 4472-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116892450-116892988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116894709-116895208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116919400-116919900 Neighboring gene uncharacterized LOC105370007

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_079826.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    116347204..116347498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    116328278..116328572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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