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PREP (prolyl endopeptidase)

Identity

Other aliasPE
PEP
HGNC (Hugo) PREP
LocusID (NCBI) 5550
Atlas_Id 52044
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 105277567 and ends at 105403124 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)
ARID1B (6q25.3) / PREP (6q21)IGF2R (6q25.3) / PREP (6q21)PREP (6q21) / AIM1 (6q21)
PREP (6q21) / ATG5 (6q21)PREP (6q21) / DCBLD1 (6q22.1)PREP (6q21) / LDLRAD4 (18p11.21)
PREP (6q21) / PLN (6q22.31)TMEM242 (6q25.3) / PREP (6q21)ARID1B 6q25.3 / PREP 6q21
C6orf35 PREP 6q21IGF2R 6q25.3 / PREP 6q21PREP 6q21 / AIM1 6q21
PREP 6q21 / ATG5 6q21PREP 6q21 C18orf1PREP 6q21 / DCBLD1 6q22.1
PREP 6q21 / PLN 6q22.31

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(6;6)(q21;q22) PREP/DCBLD1
t(6;6)(q21;q22) PREP/PLN
t(6;6)(q21;q25) ARID1B/PREP
t(6;6)(q21;q25) IGF2R/PREP
t(6;6)(q21;q25) TMEM242/PREP
t(6;18)(q21;p11) PREP/LDLRAD4


External links

Nomenclature
HGNC (Hugo)PREP   9358
Cards
Entrez_Gene (NCBI)PREP  5550  prolyl endopeptidase
AliasesPE; PEP
GeneCards (Weizmann)PREP
Ensembl hg19 (Hinxton)ENSG00000085377 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000085377 [Gene_View]  ENSG00000085377 [Sequence]  chr6:105277567-105403124 [Contig_View]  PREP [Vega]
ICGC DataPortalENSG00000085377
TCGA cBioPortalPREP
AceView (NCBI)PREP
Genatlas (Paris)PREP
WikiGenes5550
SOURCE (Princeton)PREP
Genetics Home Reference (NIH)PREP
Genomic and cartography
GoldenPath hg38 (UCSC)PREP  -     chr6:105277567-105403124 -  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PREP  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblPREP - 6q21 [CytoView hg19]  PREP - 6q21 [CytoView hg38]
Mapping of homologs : NCBIPREP [Mapview hg19]  PREP [Mapview hg38]
OMIM600400   
Gene and transcription
Genbank (Entrez)AB020018 AB028867 AK314195 AY660966 BC030636
RefSeq transcript (Entrez)NM_002726
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PREP
Cluster EST : UnigeneHs.436564 [ NCBI ]
CGAP (NCI)Hs.436564
Alternative Splicing GalleryENSG00000085377
Gene ExpressionPREP [ NCBI-GEO ]   PREP [ EBI - ARRAY_EXPRESS ]   PREP [ SEEK ]   PREP [ MEM ]
Gene Expression Viewer (FireBrowse)PREP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5550
GTEX Portal (Tissue expression)PREP
Human Protein AtlasENSG00000085377-PREP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48147   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48147  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48147
Splice isoforms : SwissVarP48147
Catalytic activity : Enzyme3.4.21.26 [ Enzyme-Expasy ]   3.4.21.263.4.21.26 [ IntEnz-EBI ]   3.4.21.26 [ BRENDA ]   3.4.21.26 [ KEGG ]   
PhosPhoSitePlusP48147
Domaine pattern : Prosite (Expaxy)PRO_ENDOPEP_SER (PS00708)   
Domains : Interpro (EBI)AB_hydrolase    Pept_S9_AS    Pept_S9A_N    Peptidase_S9    Peptidase_S9A   
Domain families : Pfam (Sanger)Peptidase_S9 (PF00326)    Peptidase_S9_N (PF02897)   
Domain families : Pfam (NCBI)pfam00326    pfam02897   
Conserved Domain (NCBI)PREP
DMDM Disease mutations5550
Blocks (Seattle)PREP
PDB (SRS)3DDU   
PDB (PDBSum)3DDU   
PDB (IMB)3DDU   
PDB (RSDB)3DDU   
Structural Biology KnowledgeBase3DDU   
SCOP (Structural Classification of Proteins)3DDU   
CATH (Classification of proteins structures)3DDU   
SuperfamilyP48147
Human Protein Atlas [tissue]ENSG00000085377-PREP [tissue]
Peptide AtlasP48147
HPRD02673
IPIIPI00008164   IPI00644282   
Protein Interaction databases
DIP (DOE-UCLA)P48147
IntAct (EBI)P48147
FunCoupENSG00000085377
BioGRIDPREP
STRING (EMBL)PREP
ZODIACPREP
Ontologies - Pathways
QuickGOP48147
Ontology : AmiGOendopeptidase activity  serine-type endopeptidase activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  proteolysis  serine-type peptidase activity  membrane  serine-type exopeptidase activity  oligopeptidase activity  
Ontology : EGO-EBIendopeptidase activity  serine-type endopeptidase activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  proteolysis  serine-type peptidase activity  membrane  serine-type exopeptidase activity  oligopeptidase activity  
NDEx NetworkPREP
Atlas of Cancer Signalling NetworkPREP
Wikipedia pathwaysPREP
Orthology - Evolution
OrthoDB5550
GeneTree (enSembl)ENSG00000085377
Phylogenetic Trees/Animal Genes : TreeFamPREP
HOVERGENP48147
HOGENOMP48147
Homologs : HomoloGenePREP
Homology/Alignments : Family Browser (UCSC)PREP
Gene fusions - Rearrangements
Fusion : MitelmanARID1B/PREP [6q25.3/6q21]  [t(6;6)(q21;q25)]  
Fusion : MitelmanIGF2R/PREP [6q25.3/6q21]  [t(6;6)(q21;q25)]  
Fusion : MitelmanPREP/DCBLD1 [6q21/6q22.1]  [t(6;6)(q21;q22)]  
Fusion : MitelmanPREP/LDLRAD4 [6q21/18p11.21]  [t(6;18)(q21;p11)]  
Fusion : MitelmanPREP/PLN [6q21/6q22.31]  [t(6;6)(q21;q22)]  
Fusion : MitelmanTMEM242/PREP [6q25.3/6q21]  [t(6;6)(q21;q25)]  
Fusion PortalARID1B 6q25.3 PREP 6q21 LGG
Fusion PortalC6orf35 PREP 6q21 THCA
Fusion PortalIGF2R 6q25.3 PREP 6q21 BRCA
Fusion PortalPREP 6q21 AIM1 6q21 BRCA
Fusion PortalPREP 6q21 ATG5 6q21 LUAD
Fusion PortalPREP 6q21 C18orf1 BRCA
Fusion PortalPREP 6q21 DCBLD1 6q22.1 BRCA
Fusion PortalPREP 6q21 PLN 6q22.31 BRCA
Fusion : QuiverPREP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPREP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PREP
dbVarPREP
ClinVarPREP
1000_GenomesPREP 
Exome Variant ServerPREP
ExAC (Exome Aggregation Consortium)ENSG00000085377
GNOMAD BrowserENSG00000085377
Varsome BrowserPREP
Genetic variants : HAPMAP5550
Genomic Variants (DGV)PREP [DGVbeta]
DECIPHERPREP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPREP 
Mutations
ICGC Data PortalPREP 
TCGA Data PortalPREP 
Broad Tumor PortalPREP
OASIS PortalPREP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPREP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPREP
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 PREP
DgiDB (Drug Gene Interaction Database)PREP
DoCM (Curated mutations)PREP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PREP (select a term)
intoGenPREP
Cancer3DPREP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600400   
Orphanet
DisGeNETPREP
MedgenPREP
Genetic Testing Registry PREP
NextProtP48147 [Medical]
TSGene5550
GENETestsPREP
Target ValidationPREP
Huge Navigator PREP [HugePedia]
snp3D : Map Gene to Disease5550
BioCentury BCIQPREP
ClinGenPREP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5550
Chemical/Pharm GKB GenePA33730
Clinical trialPREP
Miscellaneous
canSAR (ICR)PREP (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePREP
EVEXPREP
GoPubMedPREP
iHOPPREP
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 6 11:32:11 CET 2018

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