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Aliases for DBET Gene

Subcategory (RNA class) for DBET Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for DBET Gene

  • D4Z4 Binding Element Transcript (Non-Protein Coding) 2 3 5
  • Chromatin-Associated Long Non-Coding RNA 2 3
  • Double Homeobox 4 Like 4 Pseudogene 3
  • DUX4L30 3
  • DBE-T 3

External Ids for DBET Gene

Previous GeneCards Identifiers for DBET Gene

  • GC04U901797

Summaries for DBET Gene

GeneCards Summary for DBET Gene

DBET (D4Z4 Binding Element Transcript (Non-Protein Coding)) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with DBET include Facioscapulohumeral Muscular Dystrophy 1 and Noonan Syndrome 1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DBET Gene

Genomics for DBET Gene

Genomic Location for DBET Gene

Chromosome:
4
Start:
190,064,502 bp from pter
End:
190,067,864 bp from pter
Size:
3,363 bases
Orientation:
Plus strand

Genomic View for DBET Gene

Genes around DBET on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DBET Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DBET Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBET Gene

No data available for Regulatory Elements for DBET Gene

Proteins for DBET Gene

Post-translational modifications for DBET Gene

No Post-translational modifications

No data available for DME Specific Peptides for DBET Gene

Domains & Families for DBET Gene

Gene Families for DBET Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DBET: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for DBET Gene

Function for DBET Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DBET Gene

Localization for DBET Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for DBET Gene

Pathways & Interactions for DBET Gene

SuperPathways for DBET Gene

No Data Available

Interacting Proteins for DBET Gene

Gene Ontology (GO) - Biological Process for DBET Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DBET Gene

Drugs & Compounds for DBET Gene

No Compound Related Data Available

Transcripts for DBET Gene

mRNA/cDNA for DBET Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DBET Gene

No ASD Table

Relevant External Links for DBET Gene

GeneLoc Exon Structure for
DBET
ECgene alternative splicing isoforms for
DBET

Expression for DBET Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DBET Gene

Orthologs for DBET Gene

Evolution for DBET Gene

ENSEMBL:
Gene Tree for DBET (if available)
TreeFam:
Gene Tree for DBET (if available)

No data available for Orthologs for DBET Gene

Paralogs for DBET Gene

No data available for Paralogs for DBET Gene

Variants for DBET Gene

Sequence variations from dbSNP and Humsavar for DBET Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2856391 -- 190,063,266(+) AGAAA(C/T)GAGGG upstream-variant-2KB
rs2856392 -- 190,063,307(+) GCCCA(G/T)TGCTA upstream-variant-2KB
rs2856393 -- 190,063,969(+) ttgtt(C/T)gctgt upstream-variant-2KB
rs2856394 -- 190,064,487(+) ATTGT(A/C)TATTT upstream-variant-2KB
rs2856395 -- 190,064,922(+) TGTTT(C/T)CAGAA nc-transcript-variant

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Relevant External Links for DBET Gene

Disorders for DBET Gene

MalaCards: The human disease database

(2) MalaCards diseases for DBET Gene - From: DISEASES

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
noonan syndrome 1
  • noonan syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DBET in MalaCards View complete list of genes associated with diseases

Relevant External Links for DBET

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DBET
genes like me logo Genes that share disorders with DBET: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DBET Gene

Publications for DBET Gene

  1. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. (PMID: 22541069) Cabianca D.S. … Gabellini D. (Cell 2012) 2 3 67
  2. The activatory long non-coding RNA DBE-T reveals the epigenetic etiology of facioscapulohumeral muscular dystrophy. (PMID: 22710800) Vizoso M. … Esteller M. (Cell Res. 2012) 3

Products for DBET Gene

Sources for DBET Gene

Content