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LOC108281183 RRN3P2-SNX29P2 intergenic nontranscribed DNase I hypersensitive site-defined enhancer [ Homo sapiens (human) ]

Gene ID: 108281183, updated on 17-Sep-2024

Summary

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Gene symbol
LOC108281183
Gene description
RRN3P2-SNX29P2 intergenic nontranscribed DNase I hypersensitive site-defined enhancer
Gene type
biological region
Feature type(s)
regulatory: DNase_I_hypersensitive_site, 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 element is located in the intergenic region between the RRN3P2 (RRN3 homolog, RNA polymerase I transcription factor pseudogene 2) and SNX29P2 (sorting nexin 29 pseudogene 2) loci. It was defined as a nontranscribed region with regulatory potential based on the presence of a DNase I hypersensitive site (DHS), with an absence of capped transcripts by cap analysis of gene expression (CAGE) in HeLa cells. It was validated as a functional enhancer by reporter assays in HeLa cells. [provided by RefSeq, Jul 2016]
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Genomic context

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See LOC108281183 in Genome Data Viewer
Location:
16p11.2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29186703..29187297)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29467958..29468552)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29198024..29198618)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RRN3 pseudogene 2 Neighboring gene uncharacterized LOC101928215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29126448-29126996 Neighboring gene uncharacterized LOC124903671 Neighboring gene uncharacterized LOC100129184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29141163-29141951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29145325-29145825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29155082-29155768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29155769-29156455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29163489-29164159 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29166386-29167585 Neighboring gene Sharpr-MPRA regulatory region 414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29177699-29178199 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29196056-29197255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29203636-29204362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29209784-29210284 Neighboring gene Sharpr-MPRA regulatory region 8859 Neighboring gene uncharacterized LOC101928188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29232263-29232832 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29233140-29233640 Neighboring gene uncharacterized LOC102723708

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. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article
  2. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, Free PMC Article
  3. The accessible chromatin landscape of the human genome. Thurman RE, et al. Nature, 2012 Sep 6. PMID 22955617, 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)

General gene information

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Other Names

  • RRN3P2-SNX29P2 interval no CAGE DHS FANTOM5 enhancer

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_051143.1 

    Range
    101..695
    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
    29186703..29187297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    29467958..29468552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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