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LOC121852986 Sharpr-MPRA regulatory region 1108 [ Homo sapiens (human) ]

Gene ID: 121852986, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852986
Gene description
Sharpr-MPRA regulatory region 1108
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 DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
19q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (32787523..32787817)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (35306251..35306545)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (33278429..33278723)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10486 Neighboring gene uncharacterized LOC124904690 Neighboring gene NUDT19 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:33190064-33191263 Neighboring gene nudix hydrolase 19 Neighboring gene tudor domain containing 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14434 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33270291-33271101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33302663-33303164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33303165-33303664 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33307591-33308186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33308187-33308780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:33308781-33309375 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:33312663-33312898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:33319941-33320462 Neighboring gene GCM1 pseudogene 1 Neighboring gene solute carrier family 7 member 9 Neighboring gene RN7SK pseudogene 22

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_076093.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    32787523..32787817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    35306251..35306545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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