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LOC112272604 Sharpr-MPRA regulatory region 12494 [ Homo sapiens (human) ]

Gene ID: 112272604, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112272604
Gene description
Sharpr-MPRA regulatory region 12494
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 unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Apr 2018]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64248050..64248344)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62057904..62058198)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (64540249..64540543)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9555 Neighboring gene Sharpr-MPRA regulatory region 7733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9557 Neighboring gene sorting nexin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64437862-64438378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64445879-64446610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64453780-64454344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64455079-64455579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64454578-64455078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9565 Neighboring gene sorting nexin 22 Neighboring gene casein kinase 1 gamma 1 Neighboring gene peptidylprolyl isomerase B Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64538178-64538678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64538679-64539179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9566 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64618290-64619150 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64619151-64620010 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6533 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:64652953-64653179 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64673301-64673811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64679750-64680250 Neighboring gene PCNA clamp associated factor

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_056740.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    64248050..64248344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    62057904..62058198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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