Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PEX7 (peroxisomal biogenesis factor 7)

Identity

Alias_symbol (synonym)PTS2R
RD
Other aliasPBD9B
RCDP1
HGNC (Hugo) PEX7
LocusID (NCBI) 5191
Atlas_Id 71844
Location 6q23.3  [Link to chromosome band 6q23]
Location_base_pair Starts at 136822564 and ends at 136913934 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)
PEX7 (6q23.3) / MED23 (6q23.2)PEX7 (6q23.3) / PEX7 (6q23.3)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(q23;q23) PEX7/MED23


External links

Nomenclature
HGNC (Hugo)PEX7   8860
Cards
Entrez_Gene (NCBI)PEX7  5191  peroxisomal biogenesis factor 7
AliasesPBD9B; PTS2R; RCDP1; RD
GeneCards (Weizmann)PEX7
Ensembl hg19 (Hinxton)ENSG00000112357 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112357 [Gene_View]  ENSG00000112357 [Sequence]  chr6:136822564-136913934 [Contig_View]  PEX7 [Vega]
ICGC DataPortalENSG00000112357
TCGA cBioPortalPEX7
AceView (NCBI)PEX7
Genatlas (Paris)PEX7
WikiGenes5191
SOURCE (Princeton)PEX7
Genetics Home Reference (NIH)PEX7
Genomic and cartography
GoldenPath hg38 (UCSC)PEX7  -     chr6:136822564-136913934 +  6q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PEX7  -     6q23.3   [Description]    (hg19-Feb_2009)
EnsemblPEX7 - 6q23.3 [CytoView hg19]  PEX7 - 6q23.3 [CytoView hg38]
Mapping of homologs : NCBIPEX7 [Mapview hg19]  PEX7 [Mapview hg38]
OMIM215100   266500   601757   614879   
Gene and transcription
Genbank (Entrez)AL583681 BC006268 BC031606 BP246238 BQ011494
RefSeq transcript (Entrez)NM_000288
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PEX7
Cluster EST : UnigeneHs.280932 [ NCBI ]
CGAP (NCI)Hs.280932
Alternative Splicing GalleryENSG00000112357
Gene ExpressionPEX7 [ NCBI-GEO ]   PEX7 [ EBI - ARRAY_EXPRESS ]   PEX7 [ SEEK ]   PEX7 [ MEM ]
Gene Expression Viewer (FireBrowse)PEX7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5191
GTEX Portal (Tissue expression)PEX7
Human Protein AtlasENSG00000112357-PEX7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00628   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00628  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00628
Splice isoforms : SwissVarO00628
PhosPhoSitePlusO00628
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)PEX7
DMDM Disease mutations5191
Blocks (Seattle)PEX7
SuperfamilyO00628
Human Protein Atlas [tissue]ENSG00000112357-PEX7 [tissue]
Peptide AtlasO00628
HPRD03454
IPIIPI00012577   IPI00166919   IPI00514280   
Protein Interaction databases
DIP (DOE-UCLA)O00628
IntAct (EBI)O00628
FunCoupENSG00000112357
BioGRIDPEX7
STRING (EMBL)PEX7
ZODIACPEX7
Ontologies - Pathways
QuickGOO00628
Ontology : AmiGO###############################################################################################################################################################################################################################################################                          
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                          
NDEx NetworkPEX7
Atlas of Cancer Signalling NetworkPEX7
Wikipedia pathwaysPEX7
Orthology - Evolution
OrthoDB5191
GeneTree (enSembl)ENSG00000112357
Phylogenetic Trees/Animal Genes : TreeFamPEX7
HOVERGENO00628
HOGENOMO00628
Homologs : HomoloGenePEX7
Homology/Alignments : Family Browser (UCSC)PEX7
Gene fusions - Rearrangements
Fusion : QuiverPEX7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPEX7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PEX7
dbVarPEX7
ClinVarPEX7
1000_GenomesPEX7 
Exome Variant ServerPEX7
ExAC (Exome Aggregation Consortium)ENSG00000112357
GNOMAD BrowserENSG00000112357
Varsome BrowserPEX7
Genetic variants : HAPMAP5191
Genomic Variants (DGV)PEX7 [DGVbeta]
DECIPHERPEX7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPEX7 
Mutations
ICGC Data PortalPEX7 
TCGA Data PortalPEX7 
Broad Tumor PortalPEX7
OASIS PortalPEX7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPEX7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPEX7
LOVD (Leiden Open Variation Database)dbPEX, PEX Gene Database
BioMutasearch PEX7
DgiDB (Drug Gene Interaction Database)PEX7
DoCM (Curated mutations)PEX7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PEX7 (select a term)
intoGenPEX7
Cancer3DPEX7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM215100    266500    601757    614879   
Orphanet381    21388   
DisGeNETPEX7
MedgenPEX7
Genetic Testing Registry PEX7
NextProtO00628 [Medical]
TSGene5191
GENETestsPEX7
Target ValidationPEX7
Huge Navigator PEX7 [HugePedia]
snp3D : Map Gene to Disease5191
BioCentury BCIQPEX7
ClinGenPEX7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5191
Chemical/Pharm GKB GenePA33202
Clinical trialPEX7
Miscellaneous
canSAR (ICR)PEX7 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePEX7
EVEXPEX7
GoPubMedPEX7
iHOPPEX7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 14:23:39 CEST 2018

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