Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PEX5L (peroxisomal biogenesis factor 5 like)

Identity

Alias_symbol (synonym)PEX5R
PXR2
TRIP8b
Other aliasPEX5RP
PXR2B
HGNC (Hugo) PEX5L
LocusID (NCBI) 51555
Atlas_Id 71843
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 179794959 and ends at 180037053 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HLA-DRA (6p21.32) / PEX5L (3q26.33)NAALADL2 (3q26.31) / PEX5L (3q26.33)PTRH2 (17q23.1) / PEX5L (3q26.33)
SLC25A36 (3q23) / PEX5L (3q26.33)TMEM68 (8q12.1) / PEX5L (3q26.33)NAALADL2 PEX5L
PTRH2 PEX5LSLC25A36 PEX5L

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)PEX5L   30024
Cards
Entrez_Gene (NCBI)PEX5L  51555  peroxisomal biogenesis factor 5 like
AliasesPEX5R; PEX5RP; PXR2; PXR2B; 
TRIP8b
GeneCards (Weizmann)PEX5L
Ensembl hg19 (Hinxton)ENSG00000114757 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114757 [Gene_View]  chr3:179794959-180037053 [Contig_View]  PEX5L [Vega]
ICGC DataPortalENSG00000114757
TCGA cBioPortalPEX5L
AceView (NCBI)PEX5L
Genatlas (Paris)PEX5L
WikiGenes51555
SOURCE (Princeton)PEX5L
Genetics Home Reference (NIH)PEX5L
Genomic and cartography
GoldenPath hg38 (UCSC)PEX5L  -     chr3:179794959-180037053 -  3q26.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX5L  -     3q26.33   [Description]    (hg19-Feb_2009)
EnsemblPEX5L - 3q26.33 [CytoView hg19]  PEX5L - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBIPEX5L [Mapview hg19]  PEX5L [Mapview hg38]
OMIM611058   
Gene and transcription
Genbank (Entrez)AB032592 AB032593 AF088015 AJ245503 AK294227
RefSeq transcript (Entrez)NM_001256750 NM_001256751 NM_001256752 NM_001256753 NM_001256754 NM_001256755 NM_001256756 NM_001349386 NM_001349387 NM_001349388 NM_001349389 NM_001349390 NM_001349391 NM_001349392 NM_001349393 NM_001349394 NM_001349395 NM_001349396 NM_001349397 NM_001349398 NM_001349399 NM_001349401 NM_001349404 NM_001349406 NM_001349408 NM_001349409 NM_001349410 NM_016559
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEX5L
Cluster EST : UnigeneHs.235331 [ NCBI ]
CGAP (NCI)Hs.235331
Alternative Splicing GalleryENSG00000114757
Gene ExpressionPEX5L [ NCBI-GEO ]   PEX5L [ EBI - ARRAY_EXPRESS ]   PEX5L [ SEEK ]   PEX5L [ MEM ]
Gene Expression Viewer (FireBrowse)PEX5L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51555
GTEX Portal (Tissue expression)PEX5L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYB4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYB4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYB4
Splice isoforms : SwissVarQ8IYB4
PhosPhoSitePlusQ8IYB4
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)PEX5-rel    PTS1R_family    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)PEX5L
DMDM Disease mutations51555
Blocks (Seattle)PEX5L
SuperfamilyQ8IYB4
Human Protein AtlasENSG00000114757
Peptide AtlasQ8IYB4
HPRD11425
IPIIPI00009809   IPI00163742   IPI00477011   IPI00983212   IPI00946322   IPI00946118   IPI00947026   IPI00945068   IPI00945769   IPI00946468   IPI00946298   IPI00946671   IPI00945226   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYB4
IntAct (EBI)Q8IYB4
FunCoupENSG00000114757
BioGRIDPEX5L
STRING (EMBL)PEX5L
ZODIACPEX5L
Ontologies - Pathways
QuickGOQ8IYB4
Ontology : AmiGOperoxisome targeting sequence binding  peroxisome matrix targeting signal-1 binding  peroxisomal membrane  cytosol  protein import into peroxisome matrix, docking  small GTPase binding  receptor complex  regulation of cAMP-mediated signaling  
Ontology : EGO-EBIperoxisome targeting sequence binding  peroxisome matrix targeting signal-1 binding  peroxisomal membrane  cytosol  protein import into peroxisome matrix, docking  small GTPase binding  receptor complex  regulation of cAMP-mediated signaling  
NDEx NetworkPEX5L
Atlas of Cancer Signalling NetworkPEX5L
Wikipedia pathwaysPEX5L
Orthology - Evolution
OrthoDB51555
GeneTree (enSembl)ENSG00000114757
Phylogenetic Trees/Animal Genes : TreeFamPEX5L
HOVERGENQ8IYB4
HOGENOMQ8IYB4
Homologs : HomoloGenePEX5L
Homology/Alignments : Family Browser (UCSC)PEX5L
Gene fusions - Rearrangements
Fusion: TCGANAALADL2 PEX5L
Fusion: TCGAPTRH2 PEX5L
Fusion: TCGASLC25A36 PEX5L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX5L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX5L
dbVarPEX5L
ClinVarPEX5L
1000_GenomesPEX5L 
Exome Variant ServerPEX5L
ExAC (Exome Aggregation Consortium)PEX5L (select the gene name)
Genetic variants : HAPMAP51555
Genomic Variants (DGV)PEX5L [DGVbeta]
DECIPHERPEX5L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX5L 
Mutations
ICGC Data PortalPEX5L 
TCGA Data PortalPEX5L 
Broad Tumor PortalPEX5L
OASIS PortalPEX5L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX5L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX5L
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 PEX5L
DgiDB (Drug Gene Interaction Database)PEX5L
DoCM (Curated mutations)PEX5L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX5L (select a term)
intoGenPEX5L
Cancer3DPEX5L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611058   
Orphanet
MedgenPEX5L
Genetic Testing Registry PEX5L
NextProtQ8IYB4 [Medical]
TSGene51555
GENETestsPEX5L
Target ValidationPEX5L
Huge Navigator PEX5L [HugePedia]
snp3D : Map Gene to Disease51555
BioCentury BCIQPEX5L
ClinGenPEX5L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51555
Chemical/Pharm GKB GenePA134892044
Clinical trialPEX5L
Miscellaneous
canSAR (ICR)PEX5L (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX5L
EVEXPEX5L
GoPubMedPEX5L
iHOPPEX5L
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 : Wed May 31 15:36:05 CEST 2017

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