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LOC125371476 Sharpr-MPRA regulatory region 14536 [ Homo sapiens (human) ]

Gene ID: 125371476, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371476
Gene description
Sharpr-MPRA regulatory region 14536
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, May 2022]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10268033..10268327)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10394143..10394437)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sphingosine-1-phosphate receptor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13946 Neighboring gene microRNA 4322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13947 Neighboring gene Sharpr-MPRA regulatory region 3154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10060 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:10362245-10362818 and GRCh37_chr19:10362819-10363392 Neighboring gene mitochondrial ribosomal protein L4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13951 Neighboring gene lncRNA inflammatory and mucous response associated, antisense to ICAM1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13953 Neighboring gene intercellular adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10397303-10398272 Neighboring gene ICAM4 antisense RNA 1 Neighboring gene intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

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_080746.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    10268033..10268327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10394143..10394437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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