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LOC124625914 Sharpr-MPRA regulatory region 5867 [ Homo sapiens (human) ]

Gene ID: 124625914, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124625914
Gene description
Sharpr-MPRA regulatory region 5867
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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Mar 2022]
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Genomic context

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Location:
12p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (15879395..15879689)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (15756651..15756945)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene EGFR pathway substrate 8, signaling adaptor Neighboring gene RNA, U6 small nuclear 251, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4280 Neighboring gene uncharacterized LOC102724146 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:16063956-16064700 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:16064701-16065444 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:16069411-16069624 Neighboring gene serine/threonine kinase receptor associated protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:16089367-16090566 Neighboring gene MPRA-validated peak1581 silencer Neighboring gene deoxyribose-phosphate aldolase Neighboring gene egl-9 family hypoxia-inducible factor 3 pseudogene 1

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_079596.1 

    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
    15879395..15879689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    15756651..15756945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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