Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

CDC42EP5 (CDC42 effector protein 5)

Identity

Alias_namesCDC42 effector protein (Rho GTPase binding) 5
Alias_symbol (synonym)CEP5
Borg3
Other alias
HGNC (Hugo) CDC42EP5
LocusID (NCBI) 148170
Atlas_Id 61640
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 54465025 and ends at 54473290 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDC42EP5 (19q13.42) / CYTH1 (17q25.3)PTRF (17q21.2) / CDC42EP5 (19q13.42)

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)CDC42EP5   17408
Cards
Entrez_Gene (NCBI)CDC42EP5  148170  CDC42 effector protein 5
AliasesBorg3; CEP5
GeneCards (Weizmann)CDC42EP5
Ensembl hg19 (Hinxton)ENSG00000167617 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167617 [Gene_View]  chr19:54465025-54473290 [Contig_View]  CDC42EP5 [Vega]
ICGC DataPortalENSG00000167617
TCGA cBioPortalCDC42EP5
AceView (NCBI)CDC42EP5
Genatlas (Paris)CDC42EP5
WikiGenes148170
SOURCE (Princeton)CDC42EP5
Genetics Home Reference (NIH)CDC42EP5
Genomic and cartography
GoldenPath hg38 (UCSC)CDC42EP5  -     chr19:54465025-54473290 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDC42EP5  -     19q13.42   [Description]    (hg19-Feb_2009)
EnsemblCDC42EP5 - 19q13.42 [CytoView hg19]  CDC42EP5 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBICDC42EP5 [Mapview hg19]  CDC42EP5 [Mapview hg38]
OMIM609171   
Gene and transcription
Genbank (Entrez)AI379873 BC024327 BC065910 DA867588
RefSeq transcript (Entrez)NM_145057
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_187693 NW_003571054 NW_003571060
Consensus coding sequences : CCDS (NCBI)CDC42EP5
Cluster EST : UnigeneHs.415791 [ NCBI ]
CGAP (NCI)Hs.415791
Alternative Splicing GalleryENSG00000167617
Gene ExpressionCDC42EP5 [ NCBI-GEO ]   CDC42EP5 [ EBI - ARRAY_EXPRESS ]   CDC42EP5 [ SEEK ]   CDC42EP5 [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42EP5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)148170
GTEX Portal (Tissue expression)CDC42EP5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NZY7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NZY7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NZY7
Splice isoforms : SwissVarQ6NZY7
PhosPhoSitePlusQ6NZY7
Domaine pattern : Prosite (Expaxy)CRIB (PS50108)   
Domains : Interpro (EBI)Cdc42_effect    CRIB_dom   
Domain families : Pfam (Sanger)BORG_CEP (PF14957)    PBD (PF00786)   
Domain families : Pfam (NCBI)pfam14957    pfam00786   
Domain families : Smart (EMBL)PBD (SM00285)  
Conserved Domain (NCBI)CDC42EP5
DMDM Disease mutations148170
Blocks (Seattle)CDC42EP5
SuperfamilyQ6NZY7
Human Protein AtlasENSG00000167617
Peptide AtlasQ6NZY7
HPRD13023
IPIIPI00290570   IPI00917483   
Protein Interaction databases
DIP (DOE-UCLA)Q6NZY7
IntAct (EBI)Q6NZY7
FunCoupENSG00000167617
BioGRIDCDC42EP5
STRING (EMBL)CDC42EP5
ZODIACCDC42EP5
Ontologies - Pathways
QuickGOQ6NZY7
Ontology : AmiGOGTPase activator activity  cytoplasm  cytosol  cytoskeleton  plasma membrane  JNK cascade  Rho protein signal transduction  regulation of cell shape  endomembrane system  membrane  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  cytoplasm  cytosol  cytoskeleton  plasma membrane  JNK cascade  Rho protein signal transduction  regulation of cell shape  endomembrane system  membrane  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  
NDEx NetworkCDC42EP5
Atlas of Cancer Signalling NetworkCDC42EP5
Wikipedia pathwaysCDC42EP5
Orthology - Evolution
OrthoDB148170
GeneTree (enSembl)ENSG00000167617
Phylogenetic Trees/Animal Genes : TreeFamCDC42EP5
HOVERGENQ6NZY7
HOGENOMQ6NZY7
Homologs : HomoloGeneCDC42EP5
Homology/Alignments : Family Browser (UCSC)CDC42EP5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42EP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42EP5
dbVarCDC42EP5
ClinVarCDC42EP5
1000_GenomesCDC42EP5 
Exome Variant ServerCDC42EP5
ExAC (Exome Aggregation Consortium)CDC42EP5 (select the gene name)
Genetic variants : HAPMAP148170
Genomic Variants (DGV)CDC42EP5 [DGVbeta]
DECIPHERCDC42EP5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDC42EP5 
Mutations
ICGC Data PortalCDC42EP5 
TCGA Data PortalCDC42EP5 
Broad Tumor PortalCDC42EP5
OASIS PortalCDC42EP5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42EP5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42EP5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDC42EP5
DgiDB (Drug Gene Interaction Database)CDC42EP5
DoCM (Curated mutations)CDC42EP5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42EP5 (select a term)
intoGenCDC42EP5
Cancer3DCDC42EP5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609171   
Orphanet
MedgenCDC42EP5
Genetic Testing Registry CDC42EP5
NextProtQ6NZY7 [Medical]
TSGene148170
GENETestsCDC42EP5
Target ValidationCDC42EP5
Huge Navigator CDC42EP5 [HugePedia]
snp3D : Map Gene to Disease148170
BioCentury BCIQCDC42EP5
ClinGenCDC42EP5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD148170
Chemical/Pharm GKB GenePA134989100
Clinical trialCDC42EP5
Miscellaneous
canSAR (ICR)CDC42EP5 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42EP5
EVEXCDC42EP5
GoPubMedCDC42EP5
iHOPCDC42EP5
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 : Wed Jun 7 15:42:56 CEST 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.