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LOC112577546 Sharpr-MPRA regulatory region 4086 [ Homo sapiens (human) ]

Gene ID: 112577546, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577546
Gene description
Sharpr-MPRA regulatory region 4086
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228341068..228341362)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227529854..227530148)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228528769..228529063)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904536 Neighboring gene OBSCN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1916 Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene uncharacterized LOC124904535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228503020-228503894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228538867-228539366 Neighboring gene uncharacterized LOC101927401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228555546-228556114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228556115-228556682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228557329-228557895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228557896-228558461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228578692-228579248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228579249-228579804 Neighboring gene tripartite motif containing 11 Neighboring gene microRNA 6742

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_060466.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    228341068..228341362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    227529854..227530148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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