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PCDH15 (protocadherin related 15)

Identity

Alias (NCBI)CDHR15
DFNB23
USH1F
HGNC (Hugo) PCDH15
HGNC Alias symbCDHR15
HGNC Alias namecadherin-related family member 15
HGNC Previous nameUSH1F
 DFNB23
HGNC Previous namedeafness, autosomal recessive 23
 protocadherin 15
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(10;10)(q21;q22) DLG5/PCDH15
t(10;10)(q21;q22) PCDH15/DUSP13
t(10;10)(q21;q22) USP54/PCDH15
t(10;10)(q21;q26) DOCK1/PCDH15
t(10;19)(q21;q13) ZNF83/PCDH15


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]  ENSG00000150275 [Sequence]  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)
GoldenPathPCDH15 - 10q21.1 [CytoView hg19]  PCDH15 - 10q21.1 [CytoView hg38]
ImmunoBaseENSG00000150275
genome Data Viewer NCBIPCDH15 [Mapview hg19]  
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_001354404 NM_001354411 NM_001354420 NM_001354429 NM_001354430 NM_033056
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCDH15
Alternative Splicing GalleryENSG00000150275
Gene ExpressionPCDH15 [ NCBI-GEO ]   PCDH15 [ EBI - ARRAY_EXPRESS ]   PCDH15 [ SEEK ]   PCDH15 [ MEM ]
Gene Expression Viewer (FireBrowse)PCDH15 [ Firebrowse - Broad ]
GenevisibleExpression of PCDH15 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65217
GTEX Portal (Tissue expression)PCDH15
Human Protein AtlasENSG00000150275-PCDH15 [pathology]   [cell]   [tissue]
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-like_dom    Cadherin-like_sf    Cadherin_CS    EC_dom    Protocadherin-15   
Domain families : Pfam (Sanger)Cadherin (PF00028)    ECD (PF18432)   
Domain families : Pfam (NCBI)pfam00028    pfam18432   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)PCDH15
DMDM Disease mutations65217
Blocks (Seattle)PCDH15
PDB (RSDB)4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
PDB Europe4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
PDB (PDBSum)4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
PDB (IMB)4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
Structural Biology KnowledgeBase4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
SCOP (Structural Classification of Proteins)4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
CATH (Classification of proteins structures)4XHZ    5T4M    5T4N    5ULY    6E8F    6EB5   
SuperfamilyQ96QU1
Human Protein Atlas [tissue]ENSG00000150275-PCDH15 [tissue]
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  extracellular region  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  sensory perception of sound  stereocilium  synapse  photoreceptor cell maintenance  inner ear development  sensory perception of light stimulus  equilibrioception  
Ontology : EGO-EBIphotoreceptor outer segment  calcium ion binding  extracellular region  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  sensory perception of sound  stereocilium  synapse  photoreceptor cell maintenance  inner ear development  sensory perception of light stimulus  equilibrioception  
NDEx NetworkPCDH15
Atlas of Cancer Signalling NetworkPCDH15
Wikipedia pathwaysPCDH15
Orthology - Evolution
OrthoDB65217
GeneTree (enSembl)ENSG00000150275
Phylogenetic Trees/Animal Genes : TreeFamPCDH15
HOGENOMQ96QU1
Homologs : HomoloGenePCDH15
Homology/Alignments : Family Browser (UCSC)PCDH15
Gene fusions - Rearrangements
Fusion PortalZNF83 PCDH15
Fusion PortalDOCK1 PCDH15
Fusion PortalDLG5 PCDH15
Fusion PortalUSP54 PCDH15
Fusion : QuiverPCDH15
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCDH15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCDH15
dbVarPCDH15
ClinVarPCDH15
1000_GenomesPCDH15 
Exome Variant ServerPCDH15
GNOMAD BrowserENSG00000150275
Varsome BrowserPCDH15
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]  
Somatic Mutations in Cancer : COSMIC3DPCDH15
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601067    602083    605514    609533   
Orphanet19167    12047   
DisGeNETPCDH15
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
Protein Interactions : CTD65217
Pharm GKB GenePA32999
Clinical trialPCDH15
Miscellaneous
canSAR (ICR)PCDH15 (select the gene name)
HarmonizomePCDH15
DataMed IndexPCDH15
Probes
Litterature
PubMed117 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCDH15
EVEXPCDH15
GoPubMedPCDH15
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 16:22:25 CEST 2020

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