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LOC125446250 Sharpr-MPRA regulatory region 8887 [ Homo sapiens (human) ]

Gene ID: 125446250, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125446250
Gene description
Sharpr-MPRA regulatory region 8887
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jun 2022]
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Genomic context

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See LOC125446250 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42743003..42743297)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43223898..43224192)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43139009..43139303)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene cytochrome b5 reductase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43040225-43041216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43045573-43046386 Neighboring gene ATP synthase membrane subunit g like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43082077-43082968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43082969-43083858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43083859-43084750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43089063-43089584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43089979-43090480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43090481-43090980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43094281-43094964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43094965-43095648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43097017-43097700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43098815-43099314 Neighboring gene alpha 1,4-galactosyltransferase (P1PK blood group) Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43103268-43103479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13842 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:43136606-43137182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43138337-43138912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43139489-43140064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43144579-43145140 Neighboring gene Sharpr-MPRA regulatory region 987 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43165586-43165772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13843 Neighboring gene ribosomal protein L5 pseudogene 34 Neighboring gene GOLGA2 pseudogene 4

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

See Variation Viewer (GRCh37.p13)

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_081185.1 

    Range
    101..395
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    42743003..42743297
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    43223898..43224192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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