Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PEX12 (peroxisomal biogenesis factor 12)

Identity

Other aliasPAF-3
PBD3A
HGNC (Hugo) PEX12
LocusID (NCBI) 5193
Atlas_Id 71836
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 33901814 and ends at 33905656 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FLOT2 (17q11.2) / PEX12 (17q12)PEX12 (17q12) / OLFML2A (9q33.3)

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)PEX12   8854
Cards
Entrez_Gene (NCBI)PEX12  5193  peroxisomal biogenesis factor 12
AliasesPAF-3; PBD3A
GeneCards (Weizmann)PEX12
Ensembl hg19 (Hinxton)ENSG00000108733 [Gene_View]  chr17:33901814-33905656 [Contig_View]  PEX12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108733 [Gene_View]  chr17:33901814-33905656 [Contig_View]  PEX12 [Vega]
ICGC DataPortalENSG00000108733
TCGA cBioPortalPEX12
AceView (NCBI)PEX12
Genatlas (Paris)PEX12
WikiGenes5193
SOURCE (Princeton)PEX12
Genetics Home Reference (NIH)PEX12
Genomic and cartography
GoldenPath hg19 (UCSC)PEX12  -     chr17:33901814-33905656 -  17q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PEX12  -     17q12   [Description]    (hg38-Dec_2013)
EnsemblPEX12 - 17q12 [CytoView hg19]  PEX12 - 17q12 [CytoView hg38]
Mapping of homologs : NCBIPEX12 [Mapview hg19]  PEX12 [Mapview hg38]
OMIM266510   601758   614859   
Gene and transcription
Genbank (Entrez)AB004546 AI341587 AK312635 BC015751 BC031085
RefSeq transcript (Entrez)NM_000286
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_008447 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)PEX12
Cluster EST : UnigeneHs.591190 [ NCBI ]
CGAP (NCI)Hs.591190
Alternative Splicing GalleryENSG00000108733
Gene ExpressionPEX12 [ NCBI-GEO ]   PEX12 [ EBI - ARRAY_EXPRESS ]   PEX12 [ SEEK ]   PEX12 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5193
GTEX Portal (Tissue expression)PEX12
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00623   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00623  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00623
Splice isoforms : SwissVarO00623
PhosPhoSitePlusO00623
Domains : Interpro (EBI)PEX12    Pex_N    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Pex2_Pex12 (PF04757)   
Domain families : Pfam (NCBI)pfam04757   
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)PEX12
DMDM Disease mutations5193
Blocks (Seattle)PEX12
SuperfamilyO00623
Human Protein AtlasENSG00000108733
Peptide AtlasO00623
HPRD03455
IPIIPI00012573   IPI00816500   
Protein Interaction databases
DIP (DOE-UCLA)O00623
IntAct (EBI)O00623
FunCoupENSG00000108733
BioGRIDPEX12
STRING (EMBL)PEX12
ZODIACPEX12
Ontologies - Pathways
QuickGOO00623
Ontology : AmiGOprotein binding  peroxisome  peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  protein targeting to peroxisome  peroxisome organization  protein C-terminus binding  zinc ion binding  protein import into peroxisome matrix  protein import into peroxisome matrix  
Ontology : EGO-EBIprotein binding  peroxisome  peroxisomal membrane  integral component of peroxisomal membrane  integral component of peroxisomal membrane  protein targeting to peroxisome  peroxisome organization  protein C-terminus binding  zinc ion binding  protein import into peroxisome matrix  protein import into peroxisome matrix  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX12
Atlas of Cancer Signalling NetworkPEX12
Wikipedia pathwaysPEX12
Orthology - Evolution
OrthoDB5193
GeneTree (enSembl)ENSG00000108733
Phylogenetic Trees/Animal Genes : TreeFamPEX12
HOVERGENO00623
HOGENOMO00623
Homologs : HomoloGenePEX12
Homology/Alignments : Family Browser (UCSC)PEX12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX12
dbVarPEX12
ClinVarPEX12
1000_GenomesPEX12 
Exome Variant ServerPEX12
ExAC (Exome Aggregation Consortium)PEX12 (select the gene name)
Genetic variants : HAPMAP5193
Genomic Variants (DGV)PEX12 [DGVbeta]
DECIPHER (Syndromes)17:33901814-33905656  ENSG00000108733
CONAN: Copy Number AnalysisPEX12 
Mutations
ICGC Data PortalPEX12 
TCGA Data PortalPEX12 
Broad Tumor PortalPEX12
OASIS PortalPEX12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX12
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 PEX12
DgiDB (Drug Gene Interaction Database)PEX12
DoCM (Curated mutations)PEX12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX12 (select a term)
intoGenPEX12
Cancer3DPEX12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM266510    601758    614859   
Orphanet225    410    5016   
MedgenPEX12
Genetic Testing Registry PEX12
NextProtO00623 [Medical]
TSGene5193
GENETestsPEX12
Huge Navigator PEX12 [HugePedia]
snp3D : Map Gene to Disease5193
BioCentury BCIQPEX12
ClinGenPEX12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5193
Chemical/Pharm GKB GenePA33196
Clinical trialPEX12
Miscellaneous
canSAR (ICR)PEX12 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX12
EVEXPEX12
GoPubMedPEX12
iHOPPEX12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:38:21 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.