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DFNB31 (deafness, autosomal recessive 31)

Identity

Other namesCIP98
PDZD7B
USH2D
WHRN
WI
HGNC (Hugo) DFNB31
LocusID (NCBI) 25861
Atlas_Id 51275
Location 9q32
Location_base_pair Starts at 117164360 and ends at 117265495 bp from pter ( according to hg19-Feb_2009)

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)DFNB31   16361
Cards
Entrez_Gene (NCBI)DFNB31  25861  deafness, autosomal recessive 31
GeneCards (Weizmann)DFNB31
Ensembl hg19 (Hinxton)ENSG00000095397 [Gene_View]  chr9:117164360-117265495 [Contig_View]  DFNB31 [Vega]
Ensembl hg38 (Hinxton)ENSG00000095397 [Gene_View]  chr9:117164360-117265495 [Contig_View]  DFNB31 [Vega]
ICGC DataPortalENSG00000095397
TCGA cBioPortalDFNB31
AceView (NCBI)DFNB31
Genatlas (Paris)DFNB31
WikiGenes25861
SOURCE (Princeton)DFNB31
Genomic and cartography
GoldenPath hg19 (UCSC)DFNB31  -     chr9:117164360-117265495 -  9q32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DFNB31  -     9q32   [Description]    (hg38-Dec_2013)
EnsemblDFNB31 - 9q32 [CytoView hg19]  DFNB31 - 9q32 [CytoView hg38]
Mapping of homologs : NCBIDFNB31 [Mapview hg19]  DFNB31 [Mapview hg38]
OMIM607084   607928   611383   
Gene and transcription
Genbank (Entrez)AB040959 AK022854 AK056190 AL110228 AL557526
RefSeq transcript (Entrez)NM_001083885 NM_001173425 NM_015404
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_016700 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)DFNB31
Cluster EST : UnigeneHs.93836 [ NCBI ]
CGAP (NCI)Hs.93836
Alternative Splicing : Fast-db (Paris)GSHG0031094
Alternative Splicing GalleryENSG00000095397
Gene ExpressionDFNB31 [ NCBI-GEO ]     DFNB31 [ SEEK ]   DFNB31 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)25861
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P202 (Uniprot)
NextProtQ9P202  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P202
Splice isoforms : SwissVarQ9P202 (Swissvar)
PhosPhoSitePlusQ9P202
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
DMDM Disease mutations25861
Blocks (Seattle)DFNB31
PDB (SRS)1UEZ    1UF1    1UFX   
PDB (PDBSum)1UEZ    1UF1    1UFX   
PDB (IMB)1UEZ    1UF1    1UFX   
PDB (RSDB)1UEZ    1UF1    1UFX   
Structural Biology KnowledgeBase1UEZ    1UF1    1UFX   
SCOP (Structural Classification of Proteins)1UEZ    1UF1    1UFX   
CATH (Classification of proteins structures)1UEZ    1UF1    1UFX   
Human Protein AtlasENSG00000095397
Peptide AtlasQ9P202
HPRD09718
IPIIPI00292748   IPI00382416   IPI00335260   IPI00386465   IPI00955969   
Protein Interaction databases
DIP (DOE-UCLA)Q9P202
IntAct (EBI)Q9P202
FunCoupENSG00000095397
BioGRIDDFNB31
IntegromeDBDFNB31
STRING (EMBL)DFNB31
ZODIACDFNB31
Ontologies - Pathways
QuickGOQ9P202
Ontology : AmiGOretina homeostasis  protein binding  cytoplasm  sensory perception of sound  growth cone  stereocilium  sensory perception of light stimulus  inner ear receptor stereocilium organization  
Ontology : EGO-EBIretina homeostasis  protein binding  cytoplasm  sensory perception of sound  growth cone  stereocilium  sensory perception of light stimulus  inner ear receptor stereocilium organization  
Protein Interaction DatabaseDFNB31
Atlas of Cancer Signalling NetworkDFNB31
Wikipedia pathwaysDFNB31
Orthology - Evolution
OrthoDB25861
GeneTree (enSembl)ENSG00000095397
Phylogenetic Trees/Animal Genes : TreeFamDFNB31
Homologs : HomoloGeneDFNB31
Homology/Alignments : Family Browser (UCSC)DFNB31
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerDFNB31 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DFNB31
dbVarDFNB31
ClinVarDFNB31
1000_GenomesDFNB31 
Exome Variant ServerDFNB31
Exome Aggregation Consortium (ExAC)ENSG00000095397
SNP (GeneSNP Utah)DFNB31
SNP : HGBaseDFNB31
Genetic variants : HAPMAPDFNB31
Genomic Variants (DGV)DFNB31 [DGVbeta]
Mutations
ICGC Data PortalDFNB31 
TCGA Data PortalDFNB31 
Tumor PortalDFNB31
TCGA Copy Number PortalDFNB31
Somatic Mutations in Cancer : COSMICDFNB31 
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DFNB31
DgiDB (Drug Gene Interaction Database)DFNB31
DoCM (Curated mutations)DFNB31 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DFNB31 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:117164360-117265495
CONAN: Copy Number AnalysisDFNB31 
Mutations and Diseases : HGMDDFNB31
OMIM607084    607928    611383   
MedgenDFNB31
NextProtQ9P202 [Medical]
TSGene25861
GENETestsDFNB31
Huge Navigator DFNB31 [HugePedia]  DFNB31 [HugeCancerGEM]
snp3D : Map Gene to Disease25861
BioCentury BCIQDFNB31
General knowledge
Chemical/Protein Interactions : CTD25861
Chemical/Pharm GKB GenePA27297
Clinical trialDFNB31
Other databases
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDFNB31
GoPubMedDFNB31
iHOPDFNB31
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 18:28:21 CET 2016

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