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LOC112872304 Sharpr-MPRA regulatory region 11052 [ Homo sapiens (human) ]

Gene ID: 112872304, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112872304
Gene description
Sharpr-MPRA regulatory region 11052
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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, and by an activity-by-contact (ABC) model that predicts enhancer-gene connections. A subregion 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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). This entire genomic region was also validated as a negatively-acting cis-regulatory element for the H1-10 (H1.10 linker histone, also known as H1FX) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. [provided by RefSeq, Mar 2020]
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Genomic context

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Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129690302..129690822)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (132434736..132435256)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129409145..129409665)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129330613-129331535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129331536-129332457 Neighboring gene Sharpr-MPRA regulatory region 12201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129342361-129343136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129343789-129344398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129358807-129359416 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:129360029-129360638 Neighboring gene CARMIL2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129376963-129377790 Neighboring gene transmembrane and coiled-coil domain family 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129409826-129410443 Neighboring gene NANOG hESC enhancer GRCh37_chr3:129414696-129415307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129453832-129454332 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129513146-129514345 Neighboring gene uncharacterized LOC124906340 Neighboring gene RNY3 pseudogene 13

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. Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations. Fulco CP, et al. Nat Genet, 2019 Dec. PMID 31784727, Free PMC Article
  2. 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)

General gene information

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Other Names

  • CRISPRi-FlowFISH-validated H1-10 regulatory element

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_061364.2 

    Range
    101..621
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    129690302..129690822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    132434736..132435256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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