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LOC112543484 Sharpr-MPRA regulatory region 14193 [ Homo sapiens (human) ]

Gene ID: 112543484, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112543484
Gene description
Sharpr-MPRA regulatory region 14193
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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, May 2018]
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Genomic context

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See LOC112543484 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (34319784..34320078)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (36847095..36847389)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (34810689..34810983)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LSM14A mRNA processing body assembly factor Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:34715679-34716244 Neighboring gene MPRA-validated peak3441 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:34728773-34729345 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:34745756-34746277 Neighboring gene MPRA-validated peak3442 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:34761021-34761721 Neighboring gene granule associated Rac and RHOG effector 1 Neighboring gene ribosomal protein L29 pseudogene 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34801395-34801894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34833051-34833551 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:34850825-34851431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34857175-34857915 Neighboring gene glucose-6-phosphate isomerase Neighboring gene programmed cell death 2 like Neighboring gene RNA, 7SL, cytoplasmic 154, pseudogene

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_057571.1 

    Range
    101..395
    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
    34319784..34320078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    36847095..36847389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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