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LOC112352679 Sharpr-MPRA regulatory region 12377 [ Homo sapiens (human) ]

Gene ID: 112352679, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112352679
Gene description
Sharpr-MPRA regulatory region 12377
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 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh). [provided by RefSeq, Apr 2018]
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Genomic context

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See LOC112352679 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29645748..29646042)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29927792..29928086)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29657069..29657363)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7328 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29625406-29626091 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29626092-29626776 Neighboring gene solute carrier family 7 member 5 pseudogene 1 Neighboring gene carbonic anhydrase 5A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7330 Neighboring gene Sharpr-MPRA regulatory region 12104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29688005-29688506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29688507-29689006 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29690545-29691046 Neighboring gene sialophorin Neighboring gene Sharpr-MPRA regulatory region 8247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29706317-29706848 Neighboring gene quinolinate phosphoribosyltransferase

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_056797.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    29645748..29646042
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    29927792..29928086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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