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LOC112272592 Sharpr-MPRA regulatory region 771 [ Homo sapiens (human) ]

Gene ID: 112272592, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112272592
Gene description
Sharpr-MPRA regulatory region 771
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 DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO). [provided by RefSeq, Mar 2018]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50003792..50004086)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (47812138..47812432)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50295989..50296283)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724587 Neighboring gene ATPase phospholipid transporting 8B4 (putative) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50201373-50201873 Neighboring gene RNA, 5S ribosomal pseudogene 394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9389 Neighboring gene Sharpr-MPRA regulatory region 7155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9390 Neighboring gene NANOG hESC enhancer GRCh37_chr15:50408634-50409147 Neighboring gene ATP8B4 intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6424 Neighboring gene solute carrier family 27 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:50502954-50503533 Neighboring gene RNA, 7SL, cytoplasmic 494, pseudogene Neighboring gene histidine decarboxylase

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_056728.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    50003792..50004086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    47812138..47812432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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