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WHRN (whirlin)

Identity

Alias_namesDFNB31
deafness
Alias_symbol (synonym)CIP98
USH2D
PDZD7B
Other aliasWI
HGNC (Hugo) WHRN
LocusID (NCBI) 25861
Atlas_Id 55761
Location 9q32  [Link to chromosome band 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)WHRN   16361
LRG (Locus Reference Genomic)LRG_1094
Cards
Entrez_Gene (NCBI)WHRN  25861  whirlin
AliasesCIP98; DFNB31; PDZD7B; USH2D; 
WI
GeneCards (Weizmann)WHRN
Ensembl hg19 (Hinxton)ENSG00000095397 [Gene_View]  chr9:117164360-117265495 [Contig_View]  WHRN [Vega]
Ensembl hg38 (Hinxton)ENSG00000095397 [Gene_View]  chr9:117164360-117265495 [Contig_View]  WHRN [Vega]
ICGC DataPortalENSG00000095397
TCGA cBioPortalWHRN
AceView (NCBI)WHRN
Genatlas (Paris)WHRN
WikiGenes25861
SOURCE (Princeton)WHRN
Genetics Home Reference (NIH)WHRN
Genomic and cartography
GoldenPath hg19 (UCSC)WHRN  -     chr9:117164360-117265495 -  9q32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)WHRN  -     9q32   [Description]    (hg38-Dec_2013)
EnsemblWHRN - 9q32 [CytoView hg19]  WHRN - 9q32 [CytoView hg38]
Mapping of homologs : NCBIWHRN [Mapview hg19]  WHRN [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)WHRN
Cluster EST : UnigeneHs.93836 [ NCBI ]
CGAP (NCI)Hs.93836
Alternative Splicing GalleryENSG00000095397
Gene ExpressionWHRN [ NCBI-GEO ]   WHRN [ EBI - ARRAY_EXPRESS ]   WHRN [ SEEK ]   WHRN [ MEM ]
Gene Expression Viewer (FireBrowse)WHRN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25861
GTEX Portal (Tissue expression)WHRN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P202   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P202  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P202
Splice isoforms : SwissVarQ9P202
PhosPhoSitePlusQ9P202
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ    Whirlin   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)WHRN
DMDM Disease mutations25861
Blocks (Seattle)WHRN
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   
SuperfamilyQ9P202
Human Protein AtlasENSG00000095397
Peptide AtlasQ9P202
HPRD09718
IPIIPI00292748   IPI00382416   IPI00335260   IPI00386465   IPI00955969   
Protein Interaction databases
DIP (DOE-UCLA)Q9P202
IntAct (EBI)Q9P202
FunCoupENSG00000095397
BioGRIDWHRN
STRING (EMBL)WHRN
ZODIACWHRN
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  
NDEx NetworkWHRN
Atlas of Cancer Signalling NetworkWHRN
Wikipedia pathwaysWHRN
Orthology - Evolution
OrthoDB25861
GeneTree (enSembl)ENSG00000095397
Phylogenetic Trees/Animal Genes : TreeFamWHRN
HOVERGENQ9P202
HOGENOMQ9P202
Homologs : HomoloGeneWHRN
Homology/Alignments : Family Browser (UCSC)WHRN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerWHRN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)WHRN
dbVarWHRN
ClinVarWHRN
1000_GenomesWHRN 
Exome Variant ServerWHRN
ExAC (Exome Aggregation Consortium)WHRN (select the gene name)
Genetic variants : HAPMAP25861
Genomic Variants (DGV)WHRN [DGVbeta]
DECIPHER (Syndromes)9:117164360-117265495  ENSG00000095397
CONAN: Copy Number AnalysisWHRN 
Mutations
ICGC Data PortalWHRN 
TCGA Data PortalWHRN 
Broad Tumor PortalWHRN
OASIS PortalWHRN [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDWHRN
LOVD (Leiden Open Variation Database)Retinal and hearing impairment genetic mutation database
BioMutasearch WHRN
DgiDB (Drug Gene Interaction Database)WHRN
DoCM (Curated mutations)WHRN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)WHRN (select a term)
intoGenWHRN
Cancer3DWHRN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607084    607928    611383   
Orphanet19168    12047   
MedgenWHRN
Genetic Testing Registry WHRN
NextProtQ9P202 [Medical]
TSGene25861
GENETestsWHRN
Huge Navigator WHRN [HugePedia]
snp3D : Map Gene to Disease25861
BioCentury BCIQWHRN
ClinGenWHRN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25861
Chemical/Pharm GKB GenePA27297
Clinical trialWHRN
Miscellaneous
canSAR (ICR)WHRN (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineWHRN
EVEXWHRN
GoPubMedWHRN
iHOPWHRN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:25:02 CEST 2017

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