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LOC112449709 Sharpr-MPRA regulatory region 14543 [ Homo sapiens (human) ]

Gene ID: 112449709, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112449709
Gene description
Sharpr-MPRA regulatory region 14543
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 DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, May 2018]
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Genomic context

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See LOC112449709 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 (46859917..46860211)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (52656819..52657113)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (46893829..46894123)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome 16 open reading frame 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7435 Neighboring gene MPRA-validated peak2574 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46877721-46878246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46878247-46878770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10778 Neighboring gene creatine kinase B pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10779 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46903238-46903844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46903845-46904450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46917671-46918263 Neighboring gene Sharpr-MPRA regulatory region 10353 Neighboring gene small nucleolar RNA, C/D box 148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46931211-46931883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46933408-46934347 Neighboring gene glutamic--pyruvic transaminase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10781 Neighboring gene Sharpr-MPRA regulatory region 12922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46963495-46964034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46964035-46964572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46993862-46994528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46999088-46999813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7443 Neighboring gene DnaJ heat shock protein family (Hsp40) member A2

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_056823.1 

    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
    46859917..46860211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    52656819..52657113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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