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PPL (periplakin)

Identity

Other alias-
HGNC (Hugo) PPL
LocusID (NCBI) 5493
Atlas_Id 46425
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 4882507 and ends at 4937135 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)
HDAC9 (7p21.1) / PPL (16p13.3)PPL (16p13.3) / RBKS (2p23.2)PPL (16p13.3) / SEC14L5 (16p13.3)
HDAC9 7p21.1 / PPL 16p13.3

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) [ 2 ]
  t(2;16)(p23;p13) PPL/RBKS
t(7;16)(p21;p13) HDAC9/PPL


External links

Nomenclature
HGNC (Hugo)PPL   9273
Cards
Entrez_Gene (NCBI)PPL  5493  periplakin
Aliases
GeneCards (Weizmann)PPL
Ensembl hg19 (Hinxton)ENSG00000118898 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118898 [Gene_View]  ENSG00000118898 [Sequence]  chr16:4882507-4937135 [Contig_View]  PPL [Vega]
ICGC DataPortalENSG00000118898
TCGA cBioPortalPPL
AceView (NCBI)PPL
Genatlas (Paris)PPL
WikiGenes5493
SOURCE (Princeton)PPL
Genetics Home Reference (NIH)PPL
Genomic and cartography
GoldenPath hg38 (UCSC)PPL  -     chr16:4882507-4937135 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPL  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblPPL - 16p13.3 [CytoView hg19]  PPL - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIPPL [Mapview hg19]  PPL [Mapview hg38]
OMIM602871   
Gene and transcription
Genbank (Entrez)AB011140 AF001691 AF013717 AK295623 AW582622
RefSeq transcript (Entrez)NM_002705
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PPL
Cluster EST : UnigeneHs.192233 [ NCBI ]
CGAP (NCI)Hs.192233
Alternative Splicing GalleryENSG00000118898
Gene ExpressionPPL [ NCBI-GEO ]   PPL [ EBI - ARRAY_EXPRESS ]   PPL [ SEEK ]   PPL [ MEM ]
Gene Expression Viewer (FireBrowse)PPL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5493
GTEX Portal (Tissue expression)PPL
Human Protein AtlasENSG00000118898-PPL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60437   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60437  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60437
Splice isoforms : SwissVarO60437
PhosPhoSitePlusO60437
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)Plakin_repeat_sf    Plectin_repeat    Spectrin/alpha-actinin   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PLEC (SM00250)  SPEC (SM00150)  
Conserved Domain (NCBI)PPL
DMDM Disease mutations5493
Blocks (Seattle)PPL
PDB (SRS)4Q28   
PDB (PDBSum)4Q28   
PDB (IMB)4Q28   
PDB (RSDB)4Q28   
Structural Biology KnowledgeBase4Q28   
SCOP (Structural Classification of Proteins)4Q28   
CATH (Classification of proteins structures)4Q28   
SuperfamilyO60437
Human Protein Atlas [tissue]ENSG00000118898-PPL [tissue]
Peptide AtlasO60437
HPRD04187
IPIIPI00298057   
Protein Interaction databases
DIP (DOE-UCLA)O60437
IntAct (EBI)O60437
FunCoupENSG00000118898
BioGRIDPPL
STRING (EMBL)PPL
ZODIACPPL
Ontologies - Pathways
QuickGOO60437
Ontology : AmiGOcornified envelope  structural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  cytoskeleton  intermediate filament  response to mechanical stimulus  membrane  desmosome  wound healing  intermediate filament cytoskeleton organization  cadherin binding  extracellular exosome  cornification  
Ontology : EGO-EBIcornified envelope  structural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  cytoskeleton  intermediate filament  response to mechanical stimulus  membrane  desmosome  wound healing  intermediate filament cytoskeleton organization  cadherin binding  extracellular exosome  cornification  
NDEx NetworkPPL
Atlas of Cancer Signalling NetworkPPL
Wikipedia pathwaysPPL
Orthology - Evolution
OrthoDB5493
GeneTree (enSembl)ENSG00000118898
Phylogenetic Trees/Animal Genes : TreeFamPPL
HOVERGENO60437
HOGENOMO60437
Homologs : HomoloGenePPL
Homology/Alignments : Family Browser (UCSC)PPL
Gene fusions - Rearrangements
Fusion : MitelmanHDAC9/PPL [7p21.1/16p13.3]  [t(7;16)(p21;p13)]  
Fusion : MitelmanPPL/RBKS [16p13.3/2p23.2]  [t(2;16)(p23;p13)]  
Fusion PortalHDAC9 7p21.1 PPL 16p13.3 BRCA
Fusion : QuiverPPL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPL
dbVarPPL
ClinVarPPL
1000_GenomesPPL 
Exome Variant ServerPPL
ExAC (Exome Aggregation Consortium)ENSG00000118898
GNOMAD BrowserENSG00000118898
Varsome BrowserPPL
Genetic variants : HAPMAP5493
Genomic Variants (DGV)PPL [DGVbeta]
DECIPHERPPL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPL 
Mutations
ICGC Data PortalPPL 
TCGA Data PortalPPL 
Broad Tumor PortalPPL
OASIS PortalPPL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPPL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPPL
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 PPL
DgiDB (Drug Gene Interaction Database)PPL
DoCM (Curated mutations)PPL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPL (select a term)
intoGenPPL
Cancer3DPPL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602871   
Orphanet
DisGeNETPPL
MedgenPPL
Genetic Testing Registry PPL
NextProtO60437 [Medical]
TSGene5493
GENETestsPPL
Target ValidationPPL
Huge Navigator PPL [HugePedia]
snp3D : Map Gene to Disease5493
BioCentury BCIQPPL
ClinGenPPL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5493
Chemical/Pharm GKB GenePA33602
Clinical trialPPL
Miscellaneous
canSAR (ICR)PPL (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPL
EVEXPPL
GoPubMedPPL
iHOPPPL
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 6 11:31:35 CET 2018

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