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DFNB59 (deafness, autosomal recessive 59)

Identity

Alias_symbol (synonym)pejvakin
Other aliasPJVK
HGNC (Hugo) DFNB59
LocusID (NCBI) 494513
Atlas_Id 50190
Location 2q31.2  [Link to chromosome band 2q31]
Location_base_pair Starts at 178451436 and ends at 178461383 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DFNB59   29502
Cards
Entrez_Gene (NCBI)DFNB59  494513  deafness, autosomal recessive 59
AliasesPJVK
GeneCards (Weizmann)DFNB59
Ensembl hg19 (Hinxton)ENSG00000204311 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204311 [Gene_View]  chr2:178451436-178461383 [Contig_View]  DFNB59 [Vega]
ICGC DataPortalENSG00000204311
TCGA cBioPortalDFNB59
AceView (NCBI)DFNB59
Genatlas (Paris)DFNB59
WikiGenes494513
SOURCE (Princeton)DFNB59
Genetics Home Reference (NIH)DFNB59
Genomic and cartography
GoldenPath hg38 (UCSC)DFNB59  -     chr2:178451436-178461383 +  2q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DFNB59  -     2q31.2   [Description]    (hg19-Feb_2009)
EnsemblDFNB59 - 2q31.2 [CytoView hg19]  DFNB59 - 2q31.2 [CytoView hg38]
Mapping of homologs : NCBIDFNB59 [Mapview hg19]  DFNB59 [Mapview hg38]
OMIM610219   610220   
Gene and transcription
Genbank (Entrez)AW006294 BC020859 BC127902 BC127903 BC146938
RefSeq transcript (Entrez)NM_001042702
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DFNB59
Cluster EST : UnigeneHs.87734 [ NCBI ]
CGAP (NCI)Hs.87734
Alternative Splicing GalleryENSG00000204311
Gene ExpressionDFNB59 [ NCBI-GEO ]   DFNB59 [ EBI - ARRAY_EXPRESS ]   DFNB59 [ SEEK ]   DFNB59 [ MEM ]
Gene Expression Viewer (FireBrowse)DFNB59 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)494513
GTEX Portal (Tissue expression)DFNB59
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0ZLH3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ0ZLH3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ0ZLH3
Splice isoforms : SwissVarQ0ZLH3
PhosPhoSitePlusQ0ZLH3
Domains : Interpro (EBI)Gasdermin   
Domain families : Pfam (Sanger)Gasdermin (PF04598)   
Domain families : Pfam (NCBI)pfam04598   
Conserved Domain (NCBI)DFNB59
DMDM Disease mutations494513
Blocks (Seattle)DFNB59
SuperfamilyQ0ZLH3
Human Protein AtlasENSG00000204311
Peptide AtlasQ0ZLH3
IPIIPI00746516   IPI00917351   IPI00917692   
Protein Interaction databases
DIP (DOE-UCLA)Q0ZLH3
IntAct (EBI)Q0ZLH3
FunCoupENSG00000204311
BioGRIDDFNB59
STRING (EMBL)DFNB59
ZODIACDFNB59
Ontologies - Pathways
QuickGOQ0ZLH3
Ontology : AmiGOsensory perception of sound  neuronal cell body  
Ontology : EGO-EBIsensory perception of sound  neuronal cell body  
NDEx NetworkDFNB59
Atlas of Cancer Signalling NetworkDFNB59
Wikipedia pathwaysDFNB59
Orthology - Evolution
OrthoDB494513
GeneTree (enSembl)ENSG00000204311
Phylogenetic Trees/Animal Genes : TreeFamDFNB59
HOVERGENQ0ZLH3
HOGENOMQ0ZLH3
Homologs : HomoloGeneDFNB59
Homology/Alignments : Family Browser (UCSC)DFNB59
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDFNB59 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DFNB59
dbVarDFNB59
ClinVarDFNB59
1000_GenomesDFNB59 
Exome Variant ServerDFNB59
ExAC (Exome Aggregation Consortium)DFNB59 (select the gene name)
Genetic variants : HAPMAP494513
Genomic Variants (DGV)DFNB59 [DGVbeta]
DECIPHERDFNB59 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDFNB59 
Mutations
ICGC Data PortalDFNB59 
TCGA Data PortalDFNB59 
Broad Tumor PortalDFNB59
OASIS PortalDFNB59 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDFNB59  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDFNB59
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DFNB59
DgiDB (Drug Gene Interaction Database)DFNB59
DoCM (Curated mutations)DFNB59 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DFNB59 (select a term)
intoGenDFNB59
Cancer3DDFNB59(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610219    610220   
Orphanet12047   
MedgenDFNB59
Genetic Testing Registry DFNB59
NextProtQ0ZLH3 [Medical]
TSGene494513
GENETestsDFNB59
Huge Navigator DFNB59 [HugePedia]
snp3D : Map Gene to Disease494513
BioCentury BCIQDFNB59
ClinGenDFNB59
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD494513
Chemical/Pharm GKB GenePA134927047
Clinical trialDFNB59
Miscellaneous
canSAR (ICR)DFNB59 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDFNB59
EVEXDFNB59
GoPubMedDFNB59
iHOPDFNB59
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:13:10 CEST 2017

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