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LOC124174254 Sharpr-MPRA regulatory region 1198 [ Homo sapiens (human) ]

Gene ID: 124174254, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124174254
Gene description
Sharpr-MPRA regulatory region 1198
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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (54711429..54711723)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (55088925..55089219)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (55623989..55624283)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene SEC11 homolog B, signal peptidase complex subunit (pseudogene) Neighboring gene RP1 axonemal microtubule associated Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:55541319-55542518 Neighboring gene RPL7L1 pseudogene 18 Neighboring gene uncharacterized LOC105375842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55787756-55788338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55795336-55796119 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:55809304-55810503 Neighboring gene MPRA-validated peak7023 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55923506-55924006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55962859-55963358 Neighboring gene uncharacterized LOC107986886 Neighboring gene uncharacterized LOC107986887

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_078553.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    54711429..54711723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    55088925..55089219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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