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LOC121853038 Sharpr-MPRA regulatory region 2919 [ Homo sapiens (human) ]

Gene ID: 121853038, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121853038
Gene description
Sharpr-MPRA regulatory region 2919
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121853038 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (25759882..25760176)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26221068..26221362)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26155849..26156143)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor kinase 3 Neighboring gene YES1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18788 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:26099534-26100733 Neighboring gene RNA, 5S ribosomal pseudogene 494 Neighboring gene Sharpr-MPRA regulatory region 14204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26150305-26150816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26150817-26151326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26173086-26173586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26173587-26174087 Neighboring gene myosin XVIIIB Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26242211-26242711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18790 Neighboring gene MYO18B antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26331174-26331797 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26338651-26339188 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26339189-26339725 Neighboring gene RN7SK pseudogene 169

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_076146.1 

    Range
    101..395
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    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    25759882..25760176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    26221068..26221362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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