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PCDH19 (protocadherin 19)

Identity

Alias_namesEFMR
epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)
Alias_symbol (synonym)KIAA1313
EIEE9
Other alias
HGNC (Hugo) PCDH19
LocusID (NCBI) 57526
Atlas_Id 71699
Location Xq22.1  [Link to chromosome band Xq22]
Location_base_pair Starts at 100291644 and ends at 100410273 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)

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)PCDH19   14270
Cards
Entrez_Gene (NCBI)PCDH19  57526  protocadherin 19
AliasesEFMR; EIEE9
GeneCards (Weizmann)PCDH19
Ensembl hg19 (Hinxton)ENSG00000165194 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165194 [Gene_View]  chrX:100291644-100410273 [Contig_View]  PCDH19 [Vega]
ICGC DataPortalENSG00000165194
TCGA cBioPortalPCDH19
AceView (NCBI)PCDH19
Genatlas (Paris)PCDH19
WikiGenes57526
SOURCE (Princeton)PCDH19
Genetics Home Reference (NIH)PCDH19
Genomic and cartography
GoldenPath hg38 (UCSC)PCDH19  -     chrX:100291644-100410273 -  Xq22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCDH19  -     Xq22.1   [Description]    (hg19-Feb_2009)
EnsemblPCDH19 - Xq22.1 [CytoView hg19]  PCDH19 - Xq22.1 [CytoView hg38]
Mapping of homologs : NCBIPCDH19 [Mapview hg19]  PCDH19 [Mapview hg38]
OMIM300088   300460   
Gene and transcription
Genbank (Entrez)AB037734 AK055951 AK096591 BC136628 BM975868
RefSeq transcript (Entrez)NM_001105243 NM_001184880 NM_020766
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCDH19
Cluster EST : UnigeneHs.4993 [ NCBI ]
CGAP (NCI)Hs.4993
Alternative Splicing GalleryENSG00000165194
Gene ExpressionPCDH19 [ NCBI-GEO ]   PCDH19 [ EBI - ARRAY_EXPRESS ]   PCDH19 [ SEEK ]   PCDH19 [ MEM ]
Gene Expression Viewer (FireBrowse)PCDH19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57526
GTEX Portal (Tissue expression)PCDH19
Human Protein AtlasENSG00000165194-PCDH19 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TAB3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TAB3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TAB3
Splice isoforms : SwissVarQ8TAB3
PhosPhoSitePlusQ8TAB3
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_N    Protocadherin-19   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_2 (PF08266)   
Domain families : Pfam (NCBI)pfam00028    pfam08266   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)PCDH19
DMDM Disease mutations57526
Blocks (Seattle)PCDH19
SuperfamilyQ8TAB3
Human Protein Atlas [tissue]ENSG00000165194-PCDH19 [tissue]
Peptide AtlasQ8TAB3
HPRD11843
IPIIPI00552819   IPI00290350   IPI00867653   
Protein Interaction databases
DIP (DOE-UCLA)Q8TAB3
IntAct (EBI)Q8TAB3
FunCoupENSG00000165194
BioGRIDPCDH19
STRING (EMBL)PCDH19
ZODIACPCDH19
Ontologies - Pathways
QuickGOQ8TAB3
Ontology : AmiGOcalcium ion binding  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  brain development  
Ontology : EGO-EBIcalcium ion binding  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  brain development  
NDEx NetworkPCDH19
Atlas of Cancer Signalling NetworkPCDH19
Wikipedia pathwaysPCDH19
Orthology - Evolution
OrthoDB57526
GeneTree (enSembl)ENSG00000165194
Phylogenetic Trees/Animal Genes : TreeFamPCDH19
HOVERGENQ8TAB3
HOGENOMQ8TAB3
Homologs : HomoloGenePCDH19
Homology/Alignments : Family Browser (UCSC)PCDH19
Gene fusions - Rearrangements
Tumor Fusion PortalPCDH19
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCDH19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCDH19
dbVarPCDH19
ClinVarPCDH19
1000_GenomesPCDH19 
Exome Variant ServerPCDH19
ExAC (Exome Aggregation Consortium)ENSG00000165194
GNOMAD BrowserENSG00000165194
Genetic variants : HAPMAP57526
Genomic Variants (DGV)PCDH19 [DGVbeta]
DECIPHERPCDH19 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCDH19 
Mutations
ICGC Data PortalPCDH19 
TCGA Data PortalPCDH19 
Broad Tumor PortalPCDH19
OASIS PortalPCDH19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCDH19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCDH19
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)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PCDH19
DgiDB (Drug Gene Interaction Database)PCDH19
DoCM (Curated mutations)PCDH19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCDH19 (select a term)
intoGenPCDH19
Cancer3DPCDH19(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300088    300460   
Orphanet10307    14750   
DisGeNETPCDH19
MedgenPCDH19
Genetic Testing Registry PCDH19
NextProtQ8TAB3 [Medical]
TSGene57526
GENETestsPCDH19
Target ValidationPCDH19
Huge Navigator PCDH19 [HugePedia]
snp3D : Map Gene to Disease57526
BioCentury BCIQPCDH19
ClinGenPCDH19
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57526
Chemical/Pharm GKB GenePA33003
Clinical trialPCDH19
Miscellaneous
canSAR (ICR)PCDH19 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCDH19
EVEXPCDH19
GoPubMedPCDH19
iHOPPCDH19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:00:20 CET 2017

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