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PEX14 (peroxisomal biogenesis factor 14)

Identity

Other aliasNAPP2
PBD13A
Pex14p
dJ734G22.2
HGNC (Hugo) PEX14
LocusID (NCBI) 5195
Atlas_Id 52744
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 10535003 and ends at 10690815 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EEF2 (19p13.3) / PEX14 (1p36.22)H6PD (1p36.22) / PEX14 (1p36.22)PEX14 (1p36.22) / PEX14 (1p36.22)
PEX14 (1p36.22) / PGD (1p36.22)PEX14 (1p36.22) / PTPN14 (1q41)

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)PEX14   8856
Cards
Entrez_Gene (NCBI)PEX14  5195  peroxisomal biogenesis factor 14
AliasesNAPP2; PBD13A; Pex14p; dJ734G22.2
GeneCards (Weizmann)PEX14
Ensembl hg19 (Hinxton)ENSG00000142655 [Gene_View]  chr1:10535003-10690815 [Contig_View]  PEX14 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142655 [Gene_View]  chr1:10535003-10690815 [Contig_View]  PEX14 [Vega]
ICGC DataPortalENSG00000142655
TCGA cBioPortalPEX14
AceView (NCBI)PEX14
Genatlas (Paris)PEX14
WikiGenes5195
SOURCE (Princeton)PEX14
Genetics Home Reference (NIH)PEX14
Genomic and cartography
GoldenPath hg19 (UCSC)PEX14  -     chr1:10535003-10690815 +  1p36.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PEX14  -     1p36.22   [Description]    (hg38-Dec_2013)
EnsemblPEX14 - 1p36.22 [CytoView hg19]  PEX14 - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIPEX14 [Mapview hg19]  PEX14 [Mapview hg38]
OMIM601791   614887   
Gene and transcription
Genbank (Entrez)AB017546 AF045186 AK002194 AK293684 AK298136
RefSeq transcript (Entrez)NM_004565
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008340 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)PEX14
Cluster EST : UnigeneHs.149983 [ NCBI ]
CGAP (NCI)Hs.149983
Alternative Splicing GalleryENSG00000142655
Gene ExpressionPEX14 [ NCBI-GEO ]   PEX14 [ EBI - ARRAY_EXPRESS ]   PEX14 [ SEEK ]   PEX14 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5195
GTEX Portal (Tissue expression)PEX14
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75381   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75381  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75381
Splice isoforms : SwissVarO75381
PhosPhoSitePlusO75381
Domains : Interpro (EBI)PEX14    Pex14_N   
Domain families : Pfam (Sanger)Pex14_N (PF04695)   
Domain families : Pfam (NCBI)pfam04695   
Conserved Domain (NCBI)PEX14
DMDM Disease mutations5195
Blocks (Seattle)PEX14
PDB (SRS)2W84    2W85    4BXU   
PDB (PDBSum)2W84    2W85    4BXU   
PDB (IMB)2W84    2W85    4BXU   
PDB (RSDB)2W84    2W85    4BXU   
Structural Biology KnowledgeBase2W84    2W85    4BXU   
SCOP (Structural Classification of Proteins)2W84    2W85    4BXU   
CATH (Classification of proteins structures)2W84    2W85    4BXU   
SuperfamilyO75381
Human Protein AtlasENSG00000142655
Peptide AtlasO75381
HPRD03477
IPIIPI00025346   IPI00922479   IPI01012181   IPI00816691   
Protein Interaction databases
DIP (DOE-UCLA)O75381
IntAct (EBI)O75381
FunCoupENSG00000142655
BioGRIDPEX14
STRING (EMBL)PEX14
ZODIACPEX14
Ontologies - Pathways
QuickGOO75381
Ontology : AmiGOtranscription corepressor activity  receptor binding  protein binding  intracellular  nucleus  nucleolus  peroxisome  peroxisomal membrane  peroxisomal membrane  protein complex assembly  peroxisome organization  peroxisome organization  microtubule binding  membrane  integral component of membrane  protein import into peroxisome matrix  protein import into peroxisome matrix, translocation  negative regulation of protein binding  microtubule anchoring  peroxisome transport along microtubule  intracellular membrane-bounded organelle  protein complex  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  protein import into peroxisome matrix, substrate release  negative regulation of transcription, DNA-templated  protein N-terminus binding  beta-tubulin binding  protein homooligomerization  negative regulation of protein homotetramerization  
Ontology : EGO-EBItranscription corepressor activity  receptor binding  protein binding  intracellular  nucleus  nucleolus  peroxisome  peroxisomal membrane  peroxisomal membrane  protein complex assembly  peroxisome organization  peroxisome organization  microtubule binding  membrane  integral component of membrane  protein import into peroxisome matrix  protein import into peroxisome matrix, translocation  negative regulation of protein binding  microtubule anchoring  peroxisome transport along microtubule  intracellular membrane-bounded organelle  protein complex  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  protein import into peroxisome matrix, substrate release  negative regulation of transcription, DNA-templated  protein N-terminus binding  beta-tubulin binding  protein homooligomerization  negative regulation of protein homotetramerization  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX14
Atlas of Cancer Signalling NetworkPEX14
Wikipedia pathwaysPEX14
Orthology - Evolution
OrthoDB5195
GeneTree (enSembl)ENSG00000142655
Phylogenetic Trees/Animal Genes : TreeFamPEX14
HOVERGENO75381
HOGENOMO75381
Homologs : HomoloGenePEX14
Homology/Alignments : Family Browser (UCSC)PEX14
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX14
dbVarPEX14
ClinVarPEX14
1000_GenomesPEX14 
Exome Variant ServerPEX14
ExAC (Exome Aggregation Consortium)PEX14 (select the gene name)
Genetic variants : HAPMAP5195
Genomic Variants (DGV)PEX14 [DGVbeta]
DECIPHER (Syndromes)1:10535003-10690815  ENSG00000142655
CONAN: Copy Number AnalysisPEX14 
Mutations
ICGC Data PortalPEX14 
TCGA Data PortalPEX14 
Broad Tumor PortalPEX14
OASIS PortalPEX14 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX14
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)dbPEX, PEX Gene Database
BioMutasearch PEX14
DgiDB (Drug Gene Interaction Database)PEX14
DoCM (Curated mutations)PEX14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX14 (select a term)
intoGenPEX14
Cancer3DPEX14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601791    614887   
Orphanet225    410    5016   
MedgenPEX14
Genetic Testing Registry PEX14
NextProtO75381 [Medical]
TSGene5195
GENETestsPEX14
Huge Navigator PEX14 [HugePedia]
snp3D : Map Gene to Disease5195
BioCentury BCIQPEX14
ClinGenPEX14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5195
Chemical/Pharm GKB GenePA33198
Clinical trialPEX14
Miscellaneous
canSAR (ICR)PEX14 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX14
EVEXPEX14
GoPubMedPEX14
iHOPPEX14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:02 CET 2017

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