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LOC112806051 Sharpr-MPRA regulatory region 3137 [ Homo sapiens (human) ]

Gene ID: 112806051, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112806051
Gene description
Sharpr-MPRA regulatory region 3137
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2018]
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Genomic context

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See LOC112806051 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (144427162..144427456)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (144875227..144875521)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (145184729..145185023)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 15 Neighboring gene ARHGAP15 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:144419424-144419959 Neighboring gene NANOG hESC enhancer GRCh37_chr2:144486483-144487103 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:144537063-144537656 Neighboring gene MPRA-validated peak3890 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:144649008-144649513 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:144649514-144650018 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:144664226-144664784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:144694058-144694741 Neighboring gene uncharacterized LOC101928386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11990 Neighboring gene glycosyltransferase like domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16601 Neighboring gene MPRA-validated peak3893 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:145025446-145026228 Neighboring gene Sharpr-MPRA regulatory region 4867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145045189-145045690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145048337-145048837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145090135-145090712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145114539-145115052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16603 Neighboring gene skeletal muscle cis-regulatory module overlapping ZEB2 Neighboring gene VISTA enhancer hs407 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:145236544-145237256 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:145267859-145268774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:145274915-145275416 Neighboring gene zinc finger E-box binding homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1412 Neighboring gene long intergenic non-protein coding RNA 2993 Neighboring gene ZEB2 antisense RNA 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_060906.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    144427162..144427456
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    144875227..144875521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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