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LOC121852983 Sharpr-MPRA regulatory region 2801 [ Homo sapiens (human) ]

Gene ID: 121852983, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852983
Gene description
Sharpr-MPRA regulatory region 2801
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121852983 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 (17475680..17475974)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17610315..17610609)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17586489..17586783)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10345 Neighboring gene transmembrane protein 221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17571641-17572141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14273 Neighboring gene nucleoredoxin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17581949-17582450 Neighboring gene solute carrier family 27 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17593839-17594340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14275 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17599959-17600122 Neighboring gene PGLS divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17609403-17609947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17610300-17611168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17611169-17612037 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:17618299-17619498 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17621304-17621961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17621962-17622618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10350 Neighboring gene Sharpr-MPRA regulatory region 7913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17623276-17623931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14278 Neighboring gene 6-phosphogluconolactonase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17641583-17642201 Neighboring gene niban apoptosis regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10354

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_076090.1 

    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
    17475680..17475974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17610315..17610609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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