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LOC121627903 Sharpr-MPRA regulatory region 10659 [ Homo sapiens (human) ]

Gene ID: 121627903, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627903
Gene description
Sharpr-MPRA regulatory region 10659
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, Jun 2021]
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Genomic context

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Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33562163..33562457)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35288693..35288987)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32149969..32150263)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CDK5 regulatory subunit associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17729 Neighboring gene uncharacterized LOC124904889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32006871-32007371 Neighboring gene VISTA enhancer hs2173 Neighboring gene syntrophin alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17731 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32027926-32028104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32032043-32032543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32064897-32065812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32077069-32077617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12814 Neighboring gene CBFA2/RUNX1 partner transcriptional co-repressor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32104950-32105714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32115920-32116420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32116421-32116921 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32118677-32119177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32121705-32122204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32124101-32124819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32144891-32145546 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32156001-32156927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32169053-32169552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32169790-32170374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32170375-32170958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32175233-32175732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32240942-32241530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32244101-32244601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32250716-32251654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32251655-32252591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17739 Neighboring gene chromosome 20 open reading frame 144 Neighboring gene N-terminal EF-hand calcium binding protein 3 Neighboring gene actin like 10

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_075094.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    33562163..33562457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    35288693..35288987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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