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LOC121852978 Sharpr-MPRA regulatory region 7075 [ Homo sapiens (human) ]

Gene ID: 121852978, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852978
Gene description
Sharpr-MPRA regulatory region 7075
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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121852978 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11560554..11560848)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11688064..11688358)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11671369..11671663)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14022 Neighboring gene calponin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11662408-11663379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14024 Neighboring gene elongation factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14025 Neighboring gene uncharacterized LOC124904638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11687946-11688558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11688559-11689170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10121 Neighboring gene acid phosphatase 5, tartrate resistant Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14027 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11692934-11693099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14029 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 76

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_076084.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    11560554..11560848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    11688064..11688358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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