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LOC124625886 Sharpr-MPRA regulatory region 8601 [ Homo sapiens (human) ]

Gene ID: 124625886, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124625886
Gene description
Sharpr-MPRA regulatory region 8601
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 21:Repr, strong Polycomb repression). [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 (4204023..4204317)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4210761..4211055)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4226148-4227142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5819 Neighboring gene ribosomal protein L18 pseudogene 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4243897-4244502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4256026-4256526 Neighboring gene CRISPRi-validated cis-regulatory element chr12.200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4146 Neighboring gene uncharacterized LOC105369612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4311299-4312200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4314426-4315336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5823 Neighboring gene CCND2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4149 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:4381043-4381234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4152 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:4387997-4388189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4389371-4390328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4402781-4403282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4403283-4403782 Neighboring gene cyclin D2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4429971-4430624 Neighboring gene ribosomal protein S15 pseudogene 7 Neighboring gene TP53 induced glycolysis regulatory phosphatase

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_079486.1 

    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
    4204023..4204317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4210761..4211055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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