Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PCP4 (Purkinje cell protein 4)

Identity

Alias (NCBI)PEP-19
HGNC (Hugo) PCP4
HGNC Alias symbPEP-19
LocusID (NCBI) 5121
Atlas_Id 57483
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 39867438 and ends at 39929392 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)
GART (21q22.11) / PCP4 (21q22.2)IGSF5 (21q22.2) / PCP4 (21q22.2)SLC37A1 (21q22.3) / PCP4 (21q22.2)

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 ]
  GART/PCP4 (21q22)
SLC37A1/PCP4 (21q22)

External links

Nomenclature
HGNC (Hugo)PCP4   8742
Cards
Entrez_Gene (NCBI)PCP4  5121  Purkinje cell protein 4
AliasesPEP-19
GeneCards (Weizmann)PCP4
Ensembl hg19 (Hinxton)ENSG00000183036 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183036 [Gene_View]  ENSG00000183036 [Sequence]  chr21:39867438-39929392 [Contig_View]  PCP4 [Vega]
ICGC DataPortalENSG00000183036
TCGA cBioPortalPCP4
AceView (NCBI)PCP4
Genatlas (Paris)PCP4
WikiGenes5121
SOURCE (Princeton)PCP4
Genetics Home Reference (NIH)PCP4
Genomic and cartography
GoldenPath hg38 (UCSC)PCP4  -     chr21:39867438-39929392 +  21q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCP4  -     21q22.2   [Description]    (hg19-Feb_2009)
GoldenPathPCP4 - 21q22.2 [CytoView hg19]  PCP4 - 21q22.2 [CytoView hg38]
ImmunoBaseENSG00000183036
genome Data Viewer NCBIPCP4 [Mapview hg19]  
OMIM601629   
Gene and transcription
Genbank (Entrez)AF416716 AK289964 AM183336 BC013791 BQ287895
RefSeq transcript (Entrez)NM_006198
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCP4
Alternative Splicing GalleryENSG00000183036
Gene ExpressionPCP4 [ NCBI-GEO ]   PCP4 [ EBI - ARRAY_EXPRESS ]   PCP4 [ SEEK ]   PCP4 [ MEM ]
Gene Expression Viewer (FireBrowse)PCP4 [ Firebrowse - Broad ]
GenevisibleExpression of PCP4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5121
GTEX Portal (Tissue expression)PCP4
Human Protein AtlasENSG00000183036-PCP4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48539   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48539  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48539
Splice isoforms : SwissVarP48539
PhosPhoSitePlusP48539
Domains : Interpro (EBI)PCP4   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PCP4
DMDM Disease mutations5121
Blocks (Seattle)PCP4
PDB (RSDB)2N77   
PDB Europe2N77   
PDB (PDBSum)2N77   
PDB (IMB)2N77   
Structural Biology KnowledgeBase2N77   
SCOP (Structural Classification of Proteins)2N77   
CATH (Classification of proteins structures)2N77   
SuperfamilyP48539
Human Protein Atlas [tissue]ENSG00000183036-PCP4 [tissue]
Peptide AtlasP48539
IPIIPI00010148   IPI00978578   
Protein Interaction databases
DIP (DOE-UCLA)P48539
IntAct (EBI)P48539
FunCoupENSG00000183036
BioGRIDPCP4
STRING (EMBL)PCP4
ZODIACPCP4
Ontologies - Pathways
QuickGOP48539
Ontology : AmiGOcalcium ion binding  calcium ion binding  protein binding  calmodulin binding  calmodulin binding  calmodulin binding  nucleus  cytoplasm  cytosol  protein-containing complex  positive regulation of neuron differentiation  calmodulin dependent kinase signaling pathway  
Ontology : EGO-EBIcalcium ion binding  calcium ion binding  protein binding  calmodulin binding  calmodulin binding  calmodulin binding  nucleus  cytoplasm  cytosol  protein-containing complex  positive regulation of neuron differentiation  calmodulin dependent kinase signaling pathway  
NDEx NetworkPCP4
Atlas of Cancer Signalling NetworkPCP4
Wikipedia pathwaysPCP4
Orthology - Evolution
OrthoDB5121
GeneTree (enSembl)ENSG00000183036
Phylogenetic Trees/Animal Genes : TreeFamPCP4
HOGENOMP48539
Homologs : HomoloGenePCP4
Homology/Alignments : Family Browser (UCSC)PCP4
Gene fusions - Rearrangements
Fusion : QuiverPCP4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCP4
dbVarPCP4
ClinVarPCP4
MonarchPCP4
1000_GenomesPCP4 
Exome Variant ServerPCP4
GNOMAD BrowserENSG00000183036
Varsome BrowserPCP4
Genetic variants : HAPMAP5121
Genomic Variants (DGV)PCP4 [DGVbeta]
DECIPHERPCP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCP4 
Mutations
ICGC Data PortalPCP4 
TCGA Data PortalPCP4 
Broad Tumor PortalPCP4
OASIS PortalPCP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCP4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPCP4
Mutations and Diseases : HGMDPCP4
BioMutasearch PCP4
DgiDB (Drug Gene Interaction Database)PCP4
DoCM (Curated mutations)PCP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCP4 (select a term)
intoGenPCP4
Cancer3DPCP4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601629   
Orphanet
DisGeNETPCP4
MedgenPCP4
Genetic Testing Registry PCP4
NextProtP48539 [Medical]
TSGene5121
GENETestsPCP4
Target ValidationPCP4
Huge Navigator PCP4 [HugePedia]
snp3D : Map Gene to Disease5121
BioCentury BCIQPCP4
ClinGenPCP4
Clinical trials, drugs, therapy
Protein Interactions : CTD5121
Pharm GKB GenePA33087
Clinical trialPCP4
Miscellaneous
canSAR (ICR)PCP4 (select the gene name)
HarmonizomePCP4
DataMed IndexPCP4
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCP4
EVEXPCP4
GoPubMedPCP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:26:06 CEST 2020
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