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LOC121366077 Sharpr-MPRA regulatory region 2614 [ Homo sapiens (human) ]

Gene ID: 121366077, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121366077
Gene description
Sharpr-MPRA regulatory region 2614
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103083672..103083966)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103969925..103970219)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104843429..104843723)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BORCS7-ASMT readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104657816-104658316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104658317-104658817 Neighboring gene uncharacterized LOC107984265 Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 3077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104677691-104678377 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104677004-104677690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2775 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 2 Neighboring gene MPRA-validated peak1082 silencer Neighboring gene 5'-nucleotidase, cytosolic II Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3953 Neighboring gene ribosomal protein S15a pseudogene 29 Neighboring gene MARCKS like 1 pseudogene 1

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_074519.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    103083672..103083966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103969925..103970219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Other Literature Sources
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