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LOC112695079 Sharpr-MPRA regulatory region 10236 [ Homo sapiens (human) ]

Gene ID: 112695079, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112695079
Gene description
Sharpr-MPRA regulatory region 10236
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). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30212520..30212814)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30675844..30676138)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30608509..30608803)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene HORMA domain containing 2 Neighboring gene RPS3A pseudogene 51 Neighboring gene uncharacterized LOC105372988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18827 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30601719-30602918 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30610529-30611063 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30617260-30617890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30618871-30619372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30619373-30619872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30622687-30623483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30624775-30625710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30627593-30628226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30631328-30631830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30637625-30638293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30640698-30641198 Neighboring gene LIF antisense RNA 1 Neighboring gene LIF antisense RNA 2 Neighboring gene LIF interleukin 6 family cytokine

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_060860.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    30212520..30212814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    30675844..30676138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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