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LOC121852946 Sharpr-MPRA regulatory region 6638 [ Homo sapiens (human) ]

Gene ID: 121852946, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852946
Gene description
Sharpr-MPRA regulatory region 6638
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67529073..67529367)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68404655..68404949)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65525189..65525483)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol transfer protein cytoplasmic 1 Neighboring gene RNA, 7SL, cytoplasmic 756, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12624 Neighboring gene microRNA 548aa-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12626 Neighboring gene microRNA 548d-2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:65515294-65515797 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:65515798-65516300 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:65516301-65516804 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65516805-65517306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65525829-65526481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65535333-65535834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65535835-65536334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65551665-65552166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65552167-65552666 Neighboring gene uncharacterized LOC124904045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12627 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65595554-65595782 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:65598997-65599506 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65636212-65636398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12629 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65651209-65651710 Neighboring gene uncharacterized LOC101928045

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_076053.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    67529073..67529367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    68404655..68404949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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