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LOC112694750 Sharpr-MPRA regulatory region 13752 [ Homo sapiens (human) ]

Gene ID: 112694750, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694750
Gene description
Sharpr-MPRA regulatory region 13752
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 25:Art, potential CNV or repetitive artifacts), with weak activation in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jul 2018]
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Genomic context

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See LOC112694750 in Genome Data Viewer
Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43494609..43494903)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41850160..41850454)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44914489..44914783)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44874448-44875423 Neighboring gene long intergenic non-protein coding RNA 319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44875523-44876522 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:44876822-44877032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44882521-44883518 Neighboring gene heat shock transcription factor 2 binding protein Neighboring gene uncharacterized LOC102723380 Neighboring gene long intergenic non-protein coding RNA 313 Neighboring gene Sharpr-MPRA regulatory region 2841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44905292-44906122 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:44908716-44908853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44912277-44913132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44918667-44919571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44922889-44923698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44923814-44924426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44924427-44925037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44928045-44928546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44931227-44931922 Neighboring gene ribosomal protein L31 pseudogene 1 Neighboring gene H2B clustered histone 12 like

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_060777.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    43494609..43494903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    41850160..41850454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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