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PPWD1 (peptidylprolyl isomerase domain and WD repeat containing 1)

Identity

Alias_symbol (synonym)KIAA0073
Other alias-
HGNC (Hugo) PPWD1
LocusID (NCBI) 23398
Atlas_Id 72163
Location 5q12.3  [Link to chromosome band 5q12]
Location_base_pair Starts at 65563239 and ends at 65587543 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)
ERBIN (5q12.3) / PPWD1 (5q12.3)PPWD1 (5q12.3) / GABRE (Xq28)

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)PPWD1   28954
Cards
Entrez_Gene (NCBI)PPWD1  23398  peptidylprolyl isomerase domain and WD repeat containing 1
Aliases
GeneCards (Weizmann)PPWD1
Ensembl hg19 (Hinxton)ENSG00000113593 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113593 [Gene_View]  chr5:65563239-65587543 [Contig_View]  PPWD1 [Vega]
ICGC DataPortalENSG00000113593
TCGA cBioPortalPPWD1
AceView (NCBI)PPWD1
Genatlas (Paris)PPWD1
WikiGenes23398
SOURCE (Princeton)PPWD1
Genetics Home Reference (NIH)PPWD1
Genomic and cartography
GoldenPath hg38 (UCSC)PPWD1  -     chr5:65563239-65587543 +  5q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPWD1  -     5q12.3   [Description]    (hg19-Feb_2009)
EnsemblPPWD1 - 5q12.3 [CytoView hg19]  PPWD1 - 5q12.3 [CytoView hg38]
Mapping of homologs : NCBIPPWD1 [Mapview hg19]  PPWD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK025679 AK057718 AK093675 AK298175 AK300022
RefSeq transcript (Entrez)NM_001278926 NM_001278927 NM_001278929 NM_015342
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPWD1
Cluster EST : UnigeneHs.121432 [ NCBI ]
CGAP (NCI)Hs.121432
Alternative Splicing GalleryENSG00000113593
Gene ExpressionPPWD1 [ NCBI-GEO ]   PPWD1 [ EBI - ARRAY_EXPRESS ]   PPWD1 [ SEEK ]   PPWD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PPWD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23398
GTEX Portal (Tissue expression)PPWD1
Human Protein AtlasENSG00000113593-PPWD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BP3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BP3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BP3
Splice isoforms : SwissVarQ96BP3
Catalytic activity : Enzyme5.2.1.8 [ Enzyme-Expasy ]   5.2.1.85.2.1.8 [ IntEnz-EBI ]   5.2.1.8 [ BRENDA ]   5.2.1.8 [ KEGG ]   
PhosPhoSitePlusQ96BP3
Domaine pattern : Prosite (Expaxy)CSA_PPIASE_2 (PS50072)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Cyclophilin-like_dom    Cyclophilin-type_PPIase    Cyclophilin-type_PPIase_dom    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)Pro_isomerase (PF00160)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00160    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)PPWD1
DMDM Disease mutations23398
Blocks (Seattle)PPWD1
PDB (SRS)2A2N   
PDB (PDBSum)2A2N   
PDB (IMB)2A2N   
PDB (RSDB)2A2N   
Structural Biology KnowledgeBase2A2N   
SCOP (Structural Classification of Proteins)2A2N   
CATH (Classification of proteins structures)2A2N   
SuperfamilyQ96BP3
Human Protein Atlas [tissue]ENSG00000113593-PPWD1 [tissue]
Peptide AtlasQ96BP3
HPRD11063
IPIIPI00149650   IPI00965604   IPI00963829   IPI00965927   IPI00967712   IPI00968275   IPI00964143   IPI00964729   
Protein Interaction databases
DIP (DOE-UCLA)Q96BP3
IntAct (EBI)Q96BP3
FunCoupENSG00000113593
BioGRIDPPWD1
STRING (EMBL)PPWD1
ZODIACPPWD1
Ontologies - Pathways
QuickGOQ96BP3
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein peptidyl-prolyl isomerization  peptidyl-prolyl cis-trans isomerase activity  nucleoplasm  protein folding  nuclear body  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  protein peptidyl-prolyl isomerization  peptidyl-prolyl cis-trans isomerase activity  nucleoplasm  protein folding  nuclear body  catalytic step 2 spliceosome  
NDEx NetworkPPWD1
Atlas of Cancer Signalling NetworkPPWD1
Wikipedia pathwaysPPWD1
Orthology - Evolution
OrthoDB23398
GeneTree (enSembl)ENSG00000113593
Phylogenetic Trees/Animal Genes : TreeFamPPWD1
HOVERGENQ96BP3
HOGENOMQ96BP3
Homologs : HomoloGenePPWD1
Homology/Alignments : Family Browser (UCSC)PPWD1
Gene fusions - Rearrangements
Tumor Fusion PortalPPWD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPWD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPWD1
dbVarPPWD1
ClinVarPPWD1
1000_GenomesPPWD1 
Exome Variant ServerPPWD1
ExAC (Exome Aggregation Consortium)ENSG00000113593
GNOMAD BrowserENSG00000113593
Genetic variants : HAPMAP23398
Genomic Variants (DGV)PPWD1 [DGVbeta]
DECIPHERPPWD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPWD1 
Mutations
ICGC Data PortalPPWD1 
TCGA Data PortalPPWD1 
Broad Tumor PortalPPWD1
OASIS PortalPPWD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPWD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPWD1
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
BioMutasearch PPWD1
DgiDB (Drug Gene Interaction Database)PPWD1
DoCM (Curated mutations)PPWD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPWD1 (select a term)
intoGenPPWD1
Cancer3DPPWD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPPWD1
MedgenPPWD1
Genetic Testing Registry PPWD1
NextProtQ96BP3 [Medical]
TSGene23398
GENETestsPPWD1
Target ValidationPPWD1
Huge Navigator PPWD1 [HugePedia]
snp3D : Map Gene to Disease23398
BioCentury BCIQPPWD1
ClinGenPPWD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23398
Chemical/Pharm GKB GenePA142671149
Clinical trialPPWD1
Miscellaneous
canSAR (ICR)PPWD1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPWD1
EVEXPPWD1
GoPubMedPPWD1
iHOPPPWD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:12:52 CET 2017

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