Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PCOLCE (procollagen C-endopeptidase enhancer)

Identity

Alias_symbol (synonym)PCPE
PCPE1
Other aliasPCPE-1
HGNC (Hugo) PCOLCE
LocusID (NCBI) 5118
Atlas_Id 53825
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 100602259 and ends at 100608176 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PCOLCE (7q22.1) / ECHDC1 (6q22.33)PCOLCE (7q22.1) / PCOLCE (7q22.1)PCOLCE (7q22.1) / SEMA3B (3p21.31)

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)PCOLCE   8738
Cards
Entrez_Gene (NCBI)PCOLCE  5118  procollagen C-endopeptidase enhancer
AliasesPCPE; PCPE-1; PCPE1
GeneCards (Weizmann)PCOLCE
Ensembl hg19 (Hinxton)ENSG00000106333 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106333 [Gene_View]  chr7:100602259-100608176 [Contig_View]  PCOLCE [Vega]
ICGC DataPortalENSG00000106333
TCGA cBioPortalPCOLCE
AceView (NCBI)PCOLCE
Genatlas (Paris)PCOLCE
WikiGenes5118
SOURCE (Princeton)PCOLCE
Genetics Home Reference (NIH)PCOLCE
Genomic and cartography
GoldenPath hg38 (UCSC)PCOLCE  -     chr7:100602259-100608176 +  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCOLCE  -     7q22.1   [Description]    (hg19-Feb_2009)
EnsemblPCOLCE - 7q22.1 [CytoView hg19]  PCOLCE - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIPCOLCE [Mapview hg19]  PCOLCE [Mapview hg38]
OMIM600270   
Gene and transcription
Genbank (Entrez)AB008549 AK298364 AK313748 BC000574 BC033205
RefSeq transcript (Entrez)NM_002593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCOLCE
Cluster EST : UnigeneHs.202097 [ NCBI ]
CGAP (NCI)Hs.202097
Alternative Splicing GalleryENSG00000106333
Gene ExpressionPCOLCE [ NCBI-GEO ]   PCOLCE [ EBI - ARRAY_EXPRESS ]   PCOLCE [ SEEK ]   PCOLCE [ MEM ]
Gene Expression Viewer (FireBrowse)PCOLCE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5118
GTEX Portal (Tissue expression)PCOLCE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15113   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15113  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15113
Splice isoforms : SwissVarQ15113
PhosPhoSitePlusQ15113
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    NTR (PS50189)   
Domains : Interpro (EBI)CUB_dom    Netrin_domain    Netrin_module_non-TIMP    PCOLCE    TIMP-like_OB-fold   
Domain families : Pfam (Sanger)CUB (PF00431)    NTR (PF01759)   
Domain families : Pfam (NCBI)pfam00431    pfam01759   
Domain families : Smart (EMBL)C345C (SM00643)  CUB (SM00042)  
Conserved Domain (NCBI)PCOLCE
DMDM Disease mutations5118
Blocks (Seattle)PCOLCE
PDB (SRS)1UAP   
PDB (PDBSum)1UAP   
PDB (IMB)1UAP   
PDB (RSDB)1UAP   
Structural Biology KnowledgeBase1UAP   
SCOP (Structural Classification of Proteins)1UAP   
CATH (Classification of proteins structures)1UAP   
SuperfamilyQ15113
Human Protein AtlasENSG00000106333
Peptide AtlasQ15113
HPRD02603
IPIIPI00299738   
Protein Interaction databases
DIP (DOE-UCLA)Q15113
IntAct (EBI)Q15113
FunCoupENSG00000106333
BioGRIDPCOLCE
STRING (EMBL)PCOLCE
ZODIACPCOLCE
Ontologies - Pathways
QuickGOQ15113
Ontology : AmiGOprotein binding  collagen binding  extracellular space  proteolysis  multicellular organism development  heparin binding  positive regulation of peptidase activity  peptidase activator activity  extracellular matrix  extracellular exosome  
Ontology : EGO-EBIprotein binding  collagen binding  extracellular space  proteolysis  multicellular organism development  heparin binding  positive regulation of peptidase activity  peptidase activator activity  extracellular matrix  extracellular exosome  
NDEx NetworkPCOLCE
Atlas of Cancer Signalling NetworkPCOLCE
Wikipedia pathwaysPCOLCE
Orthology - Evolution
OrthoDB5118
GeneTree (enSembl)ENSG00000106333
Phylogenetic Trees/Animal Genes : TreeFamPCOLCE
HOVERGENQ15113
HOGENOMQ15113
Homologs : HomoloGenePCOLCE
Homology/Alignments : Family Browser (UCSC)PCOLCE
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCOLCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCOLCE
dbVarPCOLCE
ClinVarPCOLCE
1000_GenomesPCOLCE 
Exome Variant ServerPCOLCE
ExAC (Exome Aggregation Consortium)PCOLCE (select the gene name)
Genetic variants : HAPMAP5118
Genomic Variants (DGV)PCOLCE [DGVbeta]
DECIPHERPCOLCE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCOLCE 
Mutations
ICGC Data PortalPCOLCE 
TCGA Data PortalPCOLCE 
Broad Tumor PortalPCOLCE
OASIS PortalPCOLCE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCOLCE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCOLCE
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCOLCE
DgiDB (Drug Gene Interaction Database)PCOLCE
DoCM (Curated mutations)PCOLCE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCOLCE (select a term)
intoGenPCOLCE
Cancer3DPCOLCE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600270   
Orphanet
MedgenPCOLCE
Genetic Testing Registry PCOLCE
NextProtQ15113 [Medical]
TSGene5118
GENETestsPCOLCE
Target ValidationPCOLCE
Huge Navigator PCOLCE [HugePedia]
snp3D : Map Gene to Disease5118
BioCentury BCIQPCOLCE
ClinGenPCOLCE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5118
Chemical/Pharm GKB GenePA33083
Clinical trialPCOLCE
Miscellaneous
canSAR (ICR)PCOLCE (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCOLCE
EVEXPCOLCE
GoPubMedPCOLCE
iHOPPCOLCE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:48:48 CEST 2017

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