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DFNB31 (deafness, autosomal recessive 31)

Identity

Other namesCIP98
PDZD7B
USH2D
WHRN
WI
HGNC (Hugo) DFNB31
LocusID (NCBI) 25861
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

External links

Nomenclature
HGNC (Hugo)DFNB31   16361
Cards
Entrez_Gene (NCBI)DFNB31  25861  deafness, autosomal recessive 31
GeneCards (Weizmann)DFNB31
Ensembl (Hinxton)ENSG00000095397 [Gene_View]  chr9:117164360-117265495 [Contig_View]  DFNB31 [Vega]
ICGC DataPortalENSG00000095397
cBioPortalDFNB31
AceView (NCBI)DFNB31
Genatlas (Paris)DFNB31
WikiGenes25861
SOURCE (Princeton)NM_001083885 NM_001173425 NM_015404
Genomic and cartography
GoldenPath (UCSC)DFNB31  -  9q32   chr9:117164360-117265495 -  9q32   [Description]    (hg19-Feb_2009)
EnsemblDFNB31 - 9q32 [CytoView]
Mapping of homologs : NCBIDFNB31 [Mapview]
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)AC_000141 NC_000009 NC_018920 NG_016700 NT_008470 NW_001839236 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P202 (Uniprot)
NextProtQ9P202  [Medical]
With graphics : InterProQ9P202
Splice isoforms : SwissVarQ9P202 (Swissvar)
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ [organisation]  
Related proteins : CluSTrQ9P202
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
DMDM Disease mutations25861
Blocks (Seattle)Q9P202
PDB (SRS)1UEZ    1UF1    1UFX   
PDB (PDBSum)1UEZ    1UF1    1UFX   
PDB (IMB)1UEZ    1UF1    1UFX   
PDB (RSDB)1UEZ    1UF1    1UFX   
Human Protein AtlasENSG00000095397 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9P202
HPRD09718
IPIIPI00292748   IPI00382416   IPI00335260   IPI00386465   IPI00955969   
Protein Interaction databases
DIP (DOE-UCLA)Q9P202
IntAct (EBI)Q9P202
FunCoupENSG00000095397
BioGRIDDFNB31
InParanoidQ9P202
Interologous Interaction database Q9P202
IntegromeDBDFNB31
STRING (EMBL)DFNB31
Ontologies - Pathways
Ontology : AmiGOretina homeostasis  stereocilia ankle link complex  protein binding  cytoplasm  actin filament  cilium  sensory perception of sound  growth cone  stereocilium  sensory perception of light stimulus  inner ear receptor stereocilium organization  
Ontology : EGO-EBIretina homeostasis  stereocilia ankle link complex  protein binding  cytoplasm  actin filament  cilium  sensory perception of sound  growth cone  stereocilium  sensory perception of light stimulus  inner ear receptor stereocilium organization  
Protein Interaction DatabaseDFNB31
Wikipedia pathwaysDFNB31
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DFNB31
snp3D : Map Gene to Disease25861
SNP (GeneSNP Utah)DFNB31
SNP : HGBaseDFNB31
Genetic variants : HAPMAPDFNB31
Exome VariantDFNB31
1000_GenomesDFNB31 
ICGC programENSG00000095397 
Somatic Mutations in Cancer : COSMICDFNB31 
CONAN: Copy Number AnalysisDFNB31 
Mutations and Diseases : HGMDDFNB31
Genomic VariantsDFNB31  DFNB31 [DGVbeta]
dbVarDFNB31
ClinVarDFNB31
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM607084    607928    611383   
MedgenDFNB31
GENETestsDFNB31
Disease Genetic AssociationDFNB31
Huge Navigator DFNB31 [HugePedia]  DFNB31 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneDFNB31
Homology/Alignments : Family Browser (UCSC)DFNB31
Phylogenetic Trees/Animal Genes : TreeFamDFNB31
Chemical/Protein Interactions : CTD25861
Chemical/Pharm GKB GenePA27297
Clinical trialDFNB31
Cancer Resource (Charite)ENSG00000095397
Other databases
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
CoreMineDFNB31
iHOPDFNB31
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:52:46 CEST 2014

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