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LOC112449714 Sharpr-MPRA regulatory region 13528 [ Homo sapiens (human) ]

Gene ID: 112449714, updated on 17-Jun-2024

Summary

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Gene symbol
LOC112449714
Gene description
Sharpr-MPRA regulatory region 13528
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 non-DNase unmatched - State 15:Elon, transcriptional elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, May 2018]
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Genomic context

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See LOC112449714 in Genome Data Viewer
Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (48300338..48300632)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (54097607..54097901)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48334249..48334543)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10789 Neighboring gene ATP binding cassette subfamily C member 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48150856-48151718 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:48156892-48158091 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:48191888-48193087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48198931-48199432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48199433-48199932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7452 Neighboring gene Sharpr-MPRA regulatory region 3115 Neighboring gene ATP binding cassette subfamily C member 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10791 Neighboring gene lon peptidase 2, peroxisomal Neighboring gene NANOG hESC enhancer GRCh37_chr16:48317173-48317699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48353112-48353734 Neighboring gene NANOG hESC enhancer GRCh37_chr16:48370410-48370911 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:48399426-48400088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48411713-48412214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7456 Neighboring gene siah E3 ubiquitin protein ligase 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

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_056826.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    48300338..48300632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    54097607..54097901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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