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LOC121587570 Sharpr-MPRA regulatory region 9675 [ Homo sapiens (human) ]

Gene ID: 121587570, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587570
Gene description
Sharpr-MPRA regulatory region 9675
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 15:Elon, transcription elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2165695..2165989)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2052966..2053260)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2068989..2069283)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:1974493-1975692 Neighboring gene uncharacterized LOC107984988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1978509-1979198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1979199-1979889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1987859-1988771 Neighboring gene SMG6 nonsense mediated mRNA decay factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11478 Neighboring gene MCUR1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2076187-2076923 Neighboring gene VISTA enhancer hs1445 Neighboring gene VISTA enhancer hs924 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:2097975-2098476 Neighboring gene RNA, 7SL, cytoplasmic 624, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:2116692-2117891 Neighboring gene heart enhancer 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2122139-2123075 Neighboring gene uncharacterized LOC101927839

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_074857.1 

    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
    2165695..2165989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    2052966..2053260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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