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CDC42EP1 (CDC42 effector protein 1)

Identity

Alias_namesCDC42 effector protein (Rho GTPase binding) 1
Alias_symbol (synonym)MSE55
CEP1
Borg5
Other aliasBORG5
HGNC (Hugo) CDC42EP1
LocusID (NCBI) 11135
Atlas_Id 52978
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 37560464 and ends at 37569403 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		CDC42EP1 (22q13.1) / FAM96B (16q22.1)CDC42EP1 (22q13.1) / FGFR1 (8p11.23)FGFR1 (8p11.23) / CDC42EP1 (22q13.1)

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)CDC42EP1   17014
Cards
Entrez_Gene (NCBI)CDC42EP1  11135  CDC42 effector protein 1
AliasesBORG5; CEP1; MSE55
GeneCards (Weizmann)CDC42EP1
Ensembl hg19 (Hinxton)ENSG00000128283 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128283 [Gene_View]  chr22:37560464-37569403 [Contig_View]  CDC42EP1 [Vega]
ICGC DataPortalENSG00000128283
TCGA cBioPortalCDC42EP1
AceView (NCBI)CDC42EP1
Genatlas (Paris)CDC42EP1
WikiGenes11135
SOURCE (Princeton)CDC42EP1
Genetics Home Reference (NIH)CDC42EP1
Genomic and cartography
GoldenPath hg38 (UCSC)CDC42EP1  -     chr22:37560464-37569403 +  22q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDC42EP1  -     22q13.1   [Description]    (hg19-Feb_2009)
EnsemblCDC42EP1 - 22q13.1 [CytoView hg19]  CDC42EP1 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBICDC42EP1 [Mapview hg19]  CDC42EP1 [Mapview hg38]
OMIM606084   
Gene and transcription
Genbank (Entrez)AK292190 BC009356 CR456524 CU013124 CU013412
RefSeq transcript (Entrez)NM_152243
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDC42EP1
Cluster EST : UnigeneHs.225356 [ NCBI ]
CGAP (NCI)Hs.225356
Alternative Splicing GalleryENSG00000128283
Gene ExpressionCDC42EP1 [ NCBI-GEO ]   CDC42EP1 [ EBI - ARRAY_EXPRESS ]   CDC42EP1 [ SEEK ]   CDC42EP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42EP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11135
GTEX Portal (Tissue expression)CDC42EP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00587   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00587  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00587
Splice isoforms : SwissVarQ00587
PhosPhoSitePlusQ00587
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)CDC42EP1
DMDM Disease mutations11135
Blocks (Seattle)CDC42EP1
SuperfamilyQ00587
Human Protein AtlasENSG00000128283
Peptide AtlasQ00587
HPRD07303
IPIIPI00023605   IPI00220243   IPI00877771   IPI00879923   
Protein Interaction databases
DIP (DOE-UCLA)Q00587
IntAct (EBI)Q00587
FunCoupENSG00000128283
BioGRIDCDC42EP1
STRING (EMBL)CDC42EP1
ZODIACCDC42EP1
Ontologies - Pathways
QuickGOQ00587
Ontology : AmiGOGTPase activator activity  protein binding  cytoplasm  cytoskeleton  plasma membrane  cell-cell adherens junction  focal adhesion  Rho protein signal transduction  regulation of cell shape  endomembrane system  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytoplasm  cytoskeleton  plasma membrane  cell-cell adherens junction  focal adhesion  Rho protein signal transduction  regulation of cell shape  endomembrane system  GTP-Rho binding  positive regulation of actin filament polymerization  positive regulation of pseudopodium assembly  positive regulation of GTPase activity  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
NDEx NetworkCDC42EP1
Atlas of Cancer Signalling NetworkCDC42EP1
Wikipedia pathwaysCDC42EP1
Orthology - Evolution
OrthoDB11135
GeneTree (enSembl)ENSG00000128283
Phylogenetic Trees/Animal Genes : TreeFamCDC42EP1
HOVERGENQ00587
HOGENOMQ00587
Homologs : HomoloGeneCDC42EP1
Homology/Alignments : Family Browser (UCSC)CDC42EP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42EP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42EP1
dbVarCDC42EP1
ClinVarCDC42EP1
1000_GenomesCDC42EP1 
Exome Variant ServerCDC42EP1
ExAC (Exome Aggregation Consortium)CDC42EP1 (select the gene name)
Genetic variants : HAPMAP11135
Genomic Variants (DGV)CDC42EP1 [DGVbeta]
DECIPHERCDC42EP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDC42EP1 
Mutations
ICGC Data PortalCDC42EP1 
TCGA Data PortalCDC42EP1 
Broad Tumor PortalCDC42EP1
OASIS PortalCDC42EP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42EP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42EP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDC42EP1
DgiDB (Drug Gene Interaction Database)CDC42EP1
DoCM (Curated mutations)CDC42EP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42EP1 (select a term)
intoGenCDC42EP1
Cancer3DCDC42EP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606084   
Orphanet
MedgenCDC42EP1
Genetic Testing Registry CDC42EP1
NextProtQ00587 [Medical]
TSGene11135
GENETestsCDC42EP1
Target ValidationCDC42EP1
Huge Navigator CDC42EP1 [HugePedia]
snp3D : Map Gene to Disease11135
BioCentury BCIQCDC42EP1
ClinGenCDC42EP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11135
Chemical/Pharm GKB GenePA38430
Clinical trialCDC42EP1
Miscellaneous
canSAR (ICR)CDC42EP1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42EP1
EVEXCDC42EP1
GoPubMedCDC42EP1
iHOPCDC42EP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:01:31 CEST 2017
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