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LOC125177480 Sharpr-MPRA regulatory region 12568 [ Homo sapiens (human) ]

Gene ID: 125177480, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177480
Gene description
Sharpr-MPRA regulatory region 12568
Gene type
biological region
Feature type(s)
regulatory: 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 repressive element 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 Repressive non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Apr 2022]
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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 (42681231..42681525)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43538368..43538662)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40811134-40811901 Neighboring gene tubulin gamma 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40820248-40820823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40825209-40826082 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40829663-40830164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40830165-40830664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40831166-40832014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40832015-40832863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40834082-40834700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12221 Neighboring gene Sharpr-MPRA regulatory region 245 Neighboring gene C-C motif chemokine receptor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40839750-40840278 Neighboring gene contactin associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40842919-40843418 Neighboring gene EZH1 +46 kb erythroid enhancer Neighboring gene EZH1 +39 kb lymphoid enhancer Neighboring gene enhancer of zeste 1 polycomb repressive complex 2 subunit Neighboring gene microRNA 6780a

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

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_080535.1 

    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
    42681231..42681525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43538368..43538662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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