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PCDH15 (protocadherin related 15)

Identity

Alias_namesUSH1F
DFNB23
deafness, autosomal recessive 23
protocadherin 15
Alias_symbol (synonym)CDHR15
Other alias
HGNC (Hugo) PCDH15
LocusID (NCBI) 65217
Atlas_Id 71697
Location 10q21.1  [Link to chromosome band 10q21]
Location_base_pair Starts at 53821100 and ends at 54801291 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DLG5 (10q22.3) / PCDH15 (10q21.1)DOCK1 (10q26.2) / PCDH15 (10q21.1)NCOA4 (10q11.23) / PCDH15 (10q21.1)
PCDH15 (10q21.1) / DUSP13 (10q22.2)PCDH15 (10q21.1) / PCDH15 (10q21.1)USP54 (10q22.2) / PCDH15 (10q21.1)
ZNF248 (10p11.1) / PCDH15 (10q21.1)ZNF83 (19q13.41) / PCDH15 (10q21.1)ZNF83 PCDH15
DOCK1 PCDH15DLG5 PCDH15USP54 PCDH15

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)PCDH15   14674
Cards
Entrez_Gene (NCBI)PCDH15  65217  protocadherin related 15
AliasesCDHR15; DFNB23; USH1F
GeneCards (Weizmann)PCDH15
Ensembl hg19 (Hinxton)ENSG00000150275 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000150275 [Gene_View]  chr10:53821100-54801291 [Contig_View]  PCDH15 [Vega]
ICGC DataPortalENSG00000150275
TCGA cBioPortalPCDH15
AceView (NCBI)PCDH15
Genatlas (Paris)PCDH15
WikiGenes65217
SOURCE (Princeton)PCDH15
Genetics Home Reference (NIH)PCDH15
Genomic and cartography
GoldenPath hg38 (UCSC)PCDH15  -     chr10:53821100-54801291 -  10q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCDH15  -     10q21.1   [Description]    (hg19-Feb_2009)
EnsemblPCDH15 - 10q21.1 [CytoView hg19]  PCDH15 - 10q21.1 [CytoView hg38]
Mapping of homologs : NCBIPCDH15 [Mapview hg19]  PCDH15 [Mapview hg38]
OMIM601067   602083   605514   609533   
Gene and transcription
Genbank (Entrez)AK126923 AL834134 AW005431 AY029205 AY029237
RefSeq transcript (Entrez)NM_001142763 NM_001142764 NM_001142765 NM_001142766 NM_001142767 NM_001142768 NM_001142769 NM_001142770 NM_001142771 NM_001142772 NM_001142773 NM_033056
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCDH15
Cluster EST : UnigeneHs.280209 [ NCBI ]
CGAP (NCI)Hs.280209
Alternative Splicing GalleryENSG00000150275
Gene ExpressionPCDH15 [ NCBI-GEO ]   PCDH15 [ EBI - ARRAY_EXPRESS ]   PCDH15 [ SEEK ]   PCDH15 [ MEM ]
Gene Expression Viewer (FireBrowse)PCDH15 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65217
GTEX Portal (Tissue expression)PCDH15
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96QU1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96QU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96QU1
Splice isoforms : SwissVarQ96QU1
PhosPhoSitePlusQ96QU1
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Protocadherin-15   
Domain families : Pfam (Sanger)Cadherin (PF00028)   
Domain families : Pfam (NCBI)pfam00028   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)PCDH15
DMDM Disease mutations65217
Blocks (Seattle)PCDH15
PDB (SRS)4XHZ   
PDB (PDBSum)4XHZ   
PDB (IMB)4XHZ   
PDB (RSDB)4XHZ   
Structural Biology KnowledgeBase4XHZ   
SCOP (Structural Classification of Proteins)4XHZ   
CATH (Classification of proteins structures)4XHZ   
SuperfamilyQ96QU1
Human Protein AtlasENSG00000150275
Peptide AtlasQ96QU1
HPRD05698
IPIIPI00290035   IPI00646069   IPI00513908   IPI00942302   IPI00916181   IPI00915907   IPI00939429   IPI00917293   IPI00827861   IPI00917425   IPI00790882   IPI00853067   IPI00852862   IPI00853188   IPI00853010   IPI00827916   IPI00853374   IPI00828203   IPI00853494   IPI00853552   IPI00893117   IPI00893000   IPI00917760   IPI00917352   
Protein Interaction databases
DIP (DOE-UCLA)Q96QU1
IntAct (EBI)Q96QU1
FunCoupENSG00000150275
BioGRIDPCDH15
STRING (EMBL)PCDH15
ZODIACPCDH15
Ontologies - Pathways
QuickGOQ96QU1
Ontology : AmiGOphotoreceptor outer segment  calcium ion binding  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  sensory perception of sound  stereocilium  synapse  photoreceptor cell maintenance  inner ear development  sensory perception of light stimulus  equilibrioception  extracellular exosome  
Ontology : EGO-EBIphotoreceptor outer segment  calcium ion binding  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  sensory perception of sound  stereocilium  synapse  photoreceptor cell maintenance  inner ear development  sensory perception of light stimulus  equilibrioception  extracellular exosome  
NDEx NetworkPCDH15
Atlas of Cancer Signalling NetworkPCDH15
Wikipedia pathwaysPCDH15
Orthology - Evolution
OrthoDB65217
GeneTree (enSembl)ENSG00000150275
Phylogenetic Trees/Animal Genes : TreeFamPCDH15
HOVERGENQ96QU1
HOGENOMQ96QU1
Homologs : HomoloGenePCDH15
Homology/Alignments : Family Browser (UCSC)PCDH15
Gene fusions - Rearrangements
Fusion: TCGAZNF83 PCDH15
Fusion: TCGADOCK1 PCDH15
Fusion: TCGADLG5 PCDH15
Fusion: TCGAUSP54 PCDH15
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCDH15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCDH15
dbVarPCDH15
ClinVarPCDH15
1000_GenomesPCDH15 
Exome Variant ServerPCDH15
ExAC (Exome Aggregation Consortium)PCDH15 (select the gene name)
Genetic variants : HAPMAP65217
Genomic Variants (DGV)PCDH15 [DGVbeta]
DECIPHERPCDH15 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCDH15 
Mutations
ICGC Data PortalPCDH15 
TCGA Data PortalPCDH15 
Broad Tumor PortalPCDH15
OASIS PortalPCDH15 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCDH15  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCDH15
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)Retinal and hearing impairment genetic mutation database
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 PCDH15
DgiDB (Drug Gene Interaction Database)PCDH15
DoCM (Curated mutations)PCDH15 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCDH15 (select a term)
intoGenPCDH15
Cancer3DPCDH15(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601067    602083    605514    609533   
Orphanet19167    12047   
MedgenPCDH15
Genetic Testing Registry PCDH15
NextProtQ96QU1 [Medical]
TSGene65217
GENETestsPCDH15
Target ValidationPCDH15
Huge Navigator PCDH15 [HugePedia]
snp3D : Map Gene to Disease65217
BioCentury BCIQPCDH15
ClinGenPCDH15
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65217
Chemical/Pharm GKB GenePA32999
Clinical trialPCDH15
Miscellaneous
canSAR (ICR)PCDH15 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCDH15
EVEXPCDH15
GoPubMedPCDH15
iHOPPCDH15
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:35:38 CEST 2017

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