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LOC125371487 Sharpr-MPRA regulatory region 5225 [ Homo sapiens (human) ]

Gene ID: 125371487, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371487
Gene description
Sharpr-MPRA regulatory region 5225
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 23:Low, low signal proximal to active elements) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, May 2022]
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Genomic context

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See LOC125371487 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16168818..16169112)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16302885..16303179)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16182106-16182670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16186189-16186918 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:16186919-16187646 and GRCh37_chr19:16187647-16188376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16191291-16192018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14202 Neighboring gene tropomyosin 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16204789-16205662 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16207997-16208194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14207 Neighboring gene RAB8A, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16253936-16254630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10291 Neighboring gene hematopoietic SH2 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14216 Neighboring gene calcium and integrin binding family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16293505-16294004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16295228-16295863 Neighboring gene uncharacterized LOC124904646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10292 Neighboring gene family with sequence similarity 32 member A Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16315239-16315388 Neighboring gene adaptor related protein complex 1 subunit mu 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16334661-16335161

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_080757.1 

    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
    16168818..16169112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    16302885..16303179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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