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LOC121099701 Sharpr-MPRA regulatory region 9043 [ Homo sapiens (human) ]

Gene ID: 121099701, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121099701
Gene description
Sharpr-MPRA regulatory region 9043
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 unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Apr 2021]
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Genomic context

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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (133423857..133424151)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (133943572..133943866)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132759549..132759843)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene follistatin like 4 Neighboring gene uncharacterized LOC124901068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132699589-132700090 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:132700914-132701437 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:132706200-132707399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132736128-132736662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132737352-132738266 Neighboring gene uncharacterized CTB-3M24.3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23104 Neighboring gene microRNA 1289-2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:132793114-132794313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:132817823-132818324 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:132818325-132818824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:132860511-132861011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16346 Neighboring gene MPRA-validated peak5467 silencer Neighboring gene uncharacterized LOC124901066

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_074181.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    133423857..133424151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    133943572..133943866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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