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LOC112214174 Sharpr-MPRA regulatory region 964 [ Homo sapiens (human) ]

Gene ID: 112214174, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112214174
Gene description
Sharpr-MPRA regulatory region 964
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer 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 Activating non-DNase unmatched - State 20:ReprD, Polycomb repression with Duke DNase/promoter and conservation enriched). It also displayed weak repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer; flanking open chromatin of candidate enhancers). [provided by RefSeq, Mar 2018]
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Genomic context

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Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22849200..22849494)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17047264..17047558)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23318409..23318703)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L52 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23305452-23305668 Neighboring gene matrix metallopeptidase 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312200-23312700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312701-23313201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23314693-23315218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23315743-23316266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5592 Neighboring gene LDL receptor related protein 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352144-23352682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352683-23353220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5594 Neighboring gene RRAD and GEM like GTPase 2

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_056665.1 

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

    Range
    22849200..22849494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17047264..17047558
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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