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LOC125424388 Sharpr-MPRA regulatory region 9836 [ Homo sapiens (human) ]

Gene ID: 125424388, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125424388
Gene description
Sharpr-MPRA regulatory region 9836
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 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, May 2022]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20319406..20319700)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20700729..20701023)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene reticulon 4 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20243726-20244270 Neighboring gene microRNA 1286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20254685-20255373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20262187-20262687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20269715-20270454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20270455-20271195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20271196-20271935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20280047-20280548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20285530-20286031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13492 Neighboring gene proline dehydrogenase like, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20300941-20301496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20301497-20302050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20307869-20308656 Neighboring gene DiGeorge syndrome critical region gene 6 like Neighboring gene family with sequence similarity 230 member G Neighboring gene MPRA-validated peak4456 silencer Neighboring gene uncharacterized LOC124905153 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20708428-20708649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715037-20715538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20715539-20716038

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_081123.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    20319406..20319700
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20700729..20701023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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