Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PEX6 (peroxisomal biogenesis factor 6)

Identity

Alias_symbol (synonym)PXAAA1
PAF-2
Other aliasHMLR2
PAF2
PBD4A
PDB4B
HGNC (Hugo) PEX6
LocusID (NCBI) 5190
Atlas_Id 50260
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 42963873 and ends at 42979243 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)
VMP1 (17q23.1) / PEX6 (6p21.1)

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)PEX6   8859
Cards
Entrez_Gene (NCBI)PEX6  5190  peroxisomal biogenesis factor 6
AliasesHMLR2; PAF-2; PAF2; PBD4A; 
PDB4B; PXAAA1
GeneCards (Weizmann)PEX6
Ensembl hg19 (Hinxton)ENSG00000124587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124587 [Gene_View]  ENSG00000124587 [Sequence]  chr6:42963873-42979243 [Contig_View]  PEX6 [Vega]
ICGC DataPortalENSG00000124587
TCGA cBioPortalPEX6
AceView (NCBI)PEX6
Genatlas (Paris)PEX6
WikiGenes5190
SOURCE (Princeton)PEX6
Genetics Home Reference (NIH)PEX6
Genomic and cartography
GoldenPath hg38 (UCSC)PEX6  -     chr6:42963873-42979243 -  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX6  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblPEX6 - 6p21.1 [CytoView hg19]  PEX6 - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBIPEX6 [Mapview hg19]  PEX6 [Mapview hg38]
OMIM601498   614862   614863   616617   
Gene and transcription
Genbank (Entrez)AB051076 AB051077 AB051078 AB208906 AK225704
RefSeq transcript (Entrez)NM_000287 NM_001316313
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEX6
Cluster EST : UnigeneHs.656425 [ NCBI ]
CGAP (NCI)Hs.656425
Alternative Splicing GalleryENSG00000124587
Gene ExpressionPEX6 [ NCBI-GEO ]   PEX6 [ EBI - ARRAY_EXPRESS ]   PEX6 [ SEEK ]   PEX6 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5190
GTEX Portal (Tissue expression)PEX6
Human Protein AtlasENSG00000124587-PEX6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13608   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13608  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13608
Splice isoforms : SwissVarQ13608
PhosPhoSitePlusQ13608
Domaine pattern : Prosite (Expaxy)AAA (PS00674)   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    ATPase_AAA_CS    P-loop_NTPase   
Domain families : Pfam (Sanger)AAA (PF00004)   
Domain families : Pfam (NCBI)pfam00004   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)PEX6
DMDM Disease mutations5190
Blocks (Seattle)PEX6
SuperfamilyQ13608
Human Protein Atlas [tissue]ENSG00000124587-PEX6 [tissue]
Peptide AtlasQ13608
HPRD03293
IPIIPI00299182   IPI00556483   IPI00844120   IPI00383261   
Protein Interaction databases
DIP (DOE-UCLA)Q13608
IntAct (EBI)Q13608
FunCoupENSG00000124587
BioGRIDPEX6
STRING (EMBL)PEX6
ZODIACPEX6
Ontologies - Pathways
QuickGOQ13608
Ontology : AmiGOphotoreceptor outer segment  protein binding  ATP binding  cytoplasm  peroxisome  peroxisomal membrane  cytosol  cytosol  cytosol  protein targeting to peroxisome  protein targeting to peroxisome  protein targeting to peroxisome  peroxisome organization  peroxisome organization  protein C-terminus binding  protein import into peroxisome matrix  protein import into peroxisome matrix, translocation  ATPase activity  ATPase activity  ATPase activity, coupled  protein-containing complex binding  protein stabilization  photoreceptor cell cilium  
Ontology : EGO-EBIphotoreceptor outer segment  protein binding  ATP binding  cytoplasm  peroxisome  peroxisomal membrane  cytosol  cytosol  cytosol  protein targeting to peroxisome  protein targeting to peroxisome  protein targeting to peroxisome  peroxisome organization  peroxisome organization  protein C-terminus binding  protein import into peroxisome matrix  protein import into peroxisome matrix, translocation  ATPase activity  ATPase activity  ATPase activity, coupled  protein-containing complex binding  protein stabilization  photoreceptor cell cilium  
Pathways : KEGGPeroxisome   
NDEx NetworkPEX6
Atlas of Cancer Signalling NetworkPEX6
Wikipedia pathwaysPEX6
Orthology - Evolution
OrthoDB5190
GeneTree (enSembl)ENSG00000124587
Phylogenetic Trees/Animal Genes : TreeFamPEX6
HOVERGENQ13608
HOGENOMQ13608
Homologs : HomoloGenePEX6
Homology/Alignments : Family Browser (UCSC)PEX6
Gene fusions - Rearrangements
Fusion : QuiverPEX6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX6
dbVarPEX6
ClinVarPEX6
1000_GenomesPEX6 
Exome Variant ServerPEX6
ExAC (Exome Aggregation Consortium)ENSG00000124587
GNOMAD BrowserENSG00000124587
Varsome BrowserPEX6
Genetic variants : HAPMAP5190
Genomic Variants (DGV)PEX6 [DGVbeta]
DECIPHERPEX6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX6 
Mutations
ICGC Data PortalPEX6 
TCGA Data PortalPEX6 
Broad Tumor PortalPEX6
OASIS PortalPEX6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX6
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 PEX6
DgiDB (Drug Gene Interaction Database)PEX6
DoCM (Curated mutations)PEX6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX6 (select a term)
intoGenPEX6
Cancer3DPEX6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601498    614862    614863    616617   
Orphanet225    410    2877    5016   
DisGeNETPEX6
MedgenPEX6
Genetic Testing Registry PEX6
NextProtQ13608 [Medical]
TSGene5190
GENETestsPEX6
Target ValidationPEX6
Huge Navigator PEX6 [HugePedia]
snp3D : Map Gene to Disease5190
BioCentury BCIQPEX6
ClinGenPEX6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5190
Chemical/Pharm GKB GenePA33201
Clinical trialPEX6
Miscellaneous
canSAR (ICR)PEX6 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX6
EVEXPEX6
GoPubMedPEX6
iHOPPEX6
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 Nov 6 11:29:29 CET 2018

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