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LOC125371480 Sharpr-MPRA regulatory region 4901 [ Homo sapiens (human) ]

Gene ID: 125371480, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125371480
Gene description
Sharpr-MPRA regulatory region 4901
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as a repressive element by Sharpr-MPRA (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 2:TssF, active promoter, flanking TSS/CpG islands) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC125371480 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12913150..12914009)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13037605..13038464)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13023964..13024823)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10180 Neighboring gene CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 2 Neighboring gene KLF transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14090 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756 Neighboring gene glutaryl-CoA dehydrogenase Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345 Neighboring gene synaptonemal complex central element protein 2 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13021591-13021759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13022560-13023262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14092 Neighboring gene microRNA 5695 Neighboring gene phenylalanyl-tRNA synthetase subunit alpha Neighboring gene FARSA antisense RNA 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
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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)

General gene information

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Other Names

  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13023964-13024665

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_080750.2 

    Range
    101..960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12913150..12914009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    13037605..13038464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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