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LOC125048456 Sharpr-MPRA regulatory region 1231 [ Homo sapiens (human) ]

Gene ID: 125048456, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125048456
Gene description
Sharpr-MPRA regulatory region 1231
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 21:Repr, strong Polycomb repression). [provided by RefSeq, Apr 2022]
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Genomic context

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See LOC125048456 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (88195745..88196039)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (82416383..82416677)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (88662089..88662383)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8835 Neighboring gene KCNK10 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38654 Neighboring gene potassium two pore domain channel subfamily K member 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:88685623-88685838 Neighboring gene Sharpr-MPRA regulatory region 1180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:88788959-88789618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:88792556-88793070 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:88830965-88831772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8840 Neighboring gene spermatogenesis associated 7 Neighboring gene NANOG hESC enhancer GRCh37_chr14:88948745-88949275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8841 Neighboring gene protein tyrosine phosphatase non-receptor type 21 Neighboring gene uncharacterized LOC105370614 Neighboring gene RNA, U4 small nuclear 22, pseudogene

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_080152.1 

    Range
    101..395
    Download
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    88195745..88196039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    82416383..82416677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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