Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PEX5 (peroxisomal biogenesis factor 5)

Identity

Alias_namesPXR1
peroxisome receptor 1
Alias_symbol (synonym)PTS1R
Other aliasPBD2A
PBD2B
PTS1-BP
RCDP5
HGNC (Hugo) PEX5
LocusID (NCBI) 5830
Atlas_Id 45552
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 7189686 and ends at 7211483 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)
LOC100507373 (19p13.12) / PEX5 (12p13.31)NCBP2 (3q29) / PEX5 (12p13.31)PEX5 (12p13.31) / CEP192 (18p11.21)
PEX5 (12p13.31) / CLSTN3 (12p13.31)PEX5 (12p13.31) / DENND1C (19p13.3)PEX5 (12p13.31) / LPL (8p21.3)
PEX5 (12p13.31) / PLP2 (Xp11.23)PEX5 12p13.31 / CLSTN3 12p13.31

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) [ 2 ]
  t(8;12)(p21;p13) PEX5/LPL
PEX5/CLSTN3 (12p13)


External links

Nomenclature
HGNC (Hugo)PEX5   9719
Cards
Entrez_Gene (NCBI)PEX5  5830  peroxisomal biogenesis factor 5
AliasesPBD2A; PBD2B; PTS1-BP; PTS1R; 
PXR1; RCDP5
GeneCards (Weizmann)PEX5
Ensembl hg19 (Hinxton)ENSG00000139197 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139197 [Gene_View]  ENSG00000139197 [Sequence]  chr12:7189686-7211483 [Contig_View]  PEX5 [Vega]
ICGC DataPortalENSG00000139197
TCGA cBioPortalPEX5
AceView (NCBI)PEX5
Genatlas (Paris)PEX5
WikiGenes5830
SOURCE (Princeton)PEX5
Genetics Home Reference (NIH)PEX5
Genomic and cartography
GoldenPath hg38 (UCSC)PEX5  -     chr12:7189686-7211483 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX5  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblPEX5 - 12p13.31 [CytoView hg19]  PEX5 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIPEX5 [Mapview hg19]  PEX5 [Mapview hg38]
OMIM202370   214110   600414   616716   
Gene and transcription
Genbank (Entrez)AI252784 AK225126 AK292256 AK299105 AK299534
RefSeq transcript (Entrez)NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026 NM_001300789 NM_001351124 NM_001351126 NM_001351127 NM_001351128 NM_001351130 NM_001351131 NM_001351132 NM_001351133 NM_001351134 NM_001351135 NM_001351136 NM_001351137 NM_001351138 NM_001351139 NM_001351140
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEX5
Cluster EST : UnigeneHs.567327 [ NCBI ]
CGAP (NCI)Hs.567327
Alternative Splicing GalleryENSG00000139197
Gene ExpressionPEX5 [ NCBI-GEO ]   PEX5 [ EBI - ARRAY_EXPRESS ]   PEX5 [ SEEK ]   PEX5 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5830
GTEX Portal (Tissue expression)PEX5
Human Protein AtlasENSG00000139197-PEX5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50542   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50542  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50542
Splice isoforms : SwissVarP50542
PhosPhoSitePlusP50542
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)PTS1R    PTS1R_family    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_repeat   
Domain families : Pfam (Sanger)TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)PEX5
DMDM Disease mutations5830
Blocks (Seattle)PEX5
PDB (SRS)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
PDB (PDBSum)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
PDB (IMB)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
PDB (RSDB)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
Structural Biology KnowledgeBase1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
SCOP (Structural Classification of Proteins)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
CATH (Classification of proteins structures)1FCH    2C0L    2C0M    2J9Q    2W84    3R9A    4BXU    4KXK    4KYO   
SuperfamilyP50542
Human Protein Atlas [tissue]ENSG00000139197-PEX5 [tissue]
Peptide AtlasP50542
HPRD02684
IPIIPI00384805   IPI00032931   IPI00165272   IPI00940679   IPI01014958   IPI01013421   IPI01015527   IPI01011166   IPI01011658   IPI01012149   IPI00909113   IPI01009543   IPI01010005   IPI01010493   IPI01014871   IPI01010028   
Protein Interaction databases
DIP (DOE-UCLA)P50542
IntAct (EBI)P50542
FunCoupENSG00000139197
BioGRIDPEX5
STRING (EMBL)PEX5
ZODIACPEX5
Ontologies - Pathways
QuickGOP50542
Ontology : AmiGOperoxisome targeting sequence binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  protein binding  cytoplasm  peroxisome  peroxisomal membrane  peroxisomal membrane  peroxisomal membrane  Golgi apparatus  cytosol  cytosol  cytosol  protein targeting to peroxisome  membrane  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix, docking  protein import into peroxisome matrix, docking  protein ubiquitination  enzyme binding  small GTPase binding  protein-containing complex  protein import into peroxisome membrane  protein N-terminus binding  negative regulation of protein homotetramerization  
Ontology : EGO-EBIperoxisome targeting sequence binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  peroxisome matrix targeting signal-1 binding  protein binding  cytoplasm  peroxisome  peroxisomal membrane  peroxisomal membrane  peroxisomal membrane  Golgi apparatus  cytosol  cytosol  cytosol  protein targeting to peroxisome  membrane  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix  protein import into peroxisome matrix, docking  protein import into peroxisome matrix, docking  protein ubiquitination  enzyme binding  small GTPase binding  protein-containing complex  protein import into peroxisome membrane  protein N-terminus binding  negative regulation of protein homotetramerization  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX5
Atlas of Cancer Signalling NetworkPEX5
Wikipedia pathwaysPEX5
Orthology - Evolution
OrthoDB5830
GeneTree (enSembl)ENSG00000139197
Phylogenetic Trees/Animal Genes : TreeFamPEX5
HOVERGENP50542
HOGENOMP50542
Homologs : HomoloGenePEX5
Homology/Alignments : Family Browser (UCSC)PEX5
Gene fusions - Rearrangements
Fusion : MitelmanPEX5/CLSTN3 [12p13.31/12p13.31]  
Fusion : MitelmanPEX5/LPL [12p13.31/8p21.3]  [t(8;12)(p21;p13)]  
Fusion PortalPEX5 12p13.31 CLSTN3 12p13.31 BRCA
Fusion : QuiverPEX5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX5
dbVarPEX5
ClinVarPEX5
1000_GenomesPEX5 
Exome Variant ServerPEX5
ExAC (Exome Aggregation Consortium)ENSG00000139197
GNOMAD BrowserENSG00000139197
Varsome BrowserPEX5
Genetic variants : HAPMAP5830
Genomic Variants (DGV)PEX5 [DGVbeta]
DECIPHERPEX5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX5 
Mutations
ICGC Data PortalPEX5 
TCGA Data PortalPEX5 
Broad Tumor PortalPEX5
OASIS PortalPEX5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX5
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)dbPEX, PEX Gene Database
BioMutasearch PEX5
DgiDB (Drug Gene Interaction Database)PEX5
DoCM (Curated mutations)PEX5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX5 (select a term)
intoGenPEX5
Cancer3DPEX5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM202370    214110    600414    616716   
Orphanet225    410    5016   
DisGeNETPEX5
MedgenPEX5
Genetic Testing Registry PEX5
NextProtP50542 [Medical]
TSGene5830
GENETestsPEX5
Target ValidationPEX5
Huge Navigator PEX5 [HugePedia]
snp3D : Map Gene to Disease5830
BioCentury BCIQPEX5
ClinGenPEX5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5830
Chemical/Pharm GKB GenePA34063
Clinical trialPEX5
Miscellaneous
canSAR (ICR)PEX5 (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX5
EVEXPEX5
GoPubMedPEX5
iHOPPEX5
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 11:29:29 CET 2018

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