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LOC121853019 Sharpr-MPRA regulatory region 13411 [ Homo sapiens (human) ]

Gene ID: 121853019, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121853019
Gene description
Sharpr-MPRA regulatory region 13411
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 25:Art, potential CNV or repetitive artifacts) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121853019 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (62847537..62847831)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (64647099..64647393)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61478889..61479183)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61447957-61448642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61449331-61450016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61450017-61450704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61454586-61455274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61455275-61455962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13126 Neighboring gene collagen type IX alpha 3 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61461792-61462748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61462749-61463704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61463705-61464661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61464662-61465617 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:61467141-61468340 Neighboring gene transcription factor like 5 Neighboring gene diphthamide biosynthesis 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13127 Neighboring gene uncharacterized LOC105372717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61492967-61493621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61506686-61507340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:61507341-61507994 Neighboring gene Sharpr-MPRA regulatory region 11652 Neighboring gene MPRA-validated peak4302 silencer Neighboring gene ARF GTPase 4 pseudogene 2 Neighboring gene small nucleolar RNA, H/ACA box 117 Neighboring gene death inducer-obliterator 1

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 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_076127.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    62847537..62847831
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    64647099..64647393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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