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LOC121627879 Sharpr-MPRA regulatory region 3318 [ Homo sapiens (human) ]

Gene ID: 121627879, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121627879
Gene description
Sharpr-MPRA regulatory region 3318
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 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627879 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45020131..45020425)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47845314..47845608)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45523389..45523683)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene APOC4-APOC2 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10745 Neighboring gene MPRA-validated peak3513 silencer Neighboring gene apolipoprotein C2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14775 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45464990-45465143 Neighboring gene CLPTM1 regulator of GABA type A receptor forward trafficking Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45514891-45515392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10749 Neighboring gene RELB proto-oncogene, NF-kB subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45541977-45542846 Neighboring gene Sharpr-MPRA regulatory region 2438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45552602-45553156 Neighboring gene CLK4 associating serine/arginine rich protein Neighboring gene RNA, U6 small nuclear 611, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10752 Neighboring gene zinc finger protein 296 Neighboring gene gem nuclear organelle associated protein 7

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_075070.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45020131..45020425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    47845314..47845608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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