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LOC111946238 Sharpr-MPRA regulatory region 2327 [ Homo sapiens (human) ]

Gene ID: 111946238, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111946238
Gene description
Sharpr-MPRA regulatory region 2327
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). It also displayed weak activation by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 3:PromF, promoter flanking). [provided by RefSeq, Feb 2018]
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Genomic context

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See LOC111946238 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (44966281..44966575)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (45847246..45847540)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (45461729..45462023)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:45304779-45305441 Neighboring gene TMEM72 antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45324635-45325498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45348956-45349456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45374502-45375428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45403886-45404386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45404387-45404887 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:45413376-45413557 Neighboring gene transmembrane protein 72 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45427808-45428515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45428516-45429222 Neighboring gene Sharpr-MPRA regulatory region 7362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3314 Neighboring gene Sharpr-MPRA regulatory region 11970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3318 Neighboring gene uncharacterized LOC105378281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45467973-45468635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:45468636-45469297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:45470934-45471637 Neighboring gene Ras association domain family member 4 Neighboring gene Sharpr-MPRA regulatory region 8316 Neighboring gene DEPP autophagy regulator 1

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_056327.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    44966281..44966575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    45847246..45847540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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