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CDC42BPA (CDC42 binding protein kinase alpha)

Identity

Alias_namesCDC42-binding protein kinase alpha (DMPK-like)
Alias_symbol (synonym)MRCKA
PK428
FLJ23347
KIAA0451
MRCK
Other alias
HGNC (Hugo) CDC42BPA
LocusID (NCBI) 8476
Atlas_Id 43197
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 226989865 and ends at 227318125 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)
CDC42BPA (1q42.13) / C5 (9q33.2)CDC42BPA (1q42.13) / CAMK2A (5q32)CDC42BPA (1q42.13) / CFH (1q31.3)
CDC42BPA (1q42.13) / EPRS (1q41)CDC42BPA (1q42.13) / PLXNA2 (1q32.2)CDC42BPA (1q42.13) / PRKG1 (10q11.23)
CDC42BPA (1q42.13) / RDX (11q22.3)CDC42BPA (1q42.13) / SGK1 (6q23.2)CDC42BPA (1q42.13) / ZNF678 (1q42.13)
FLVCR1 (1q32.3) / CDC42BPA (1q42.13)SLC38A2 (12q13.11) / CDC42BPA (1q42.13)CDC42BPA 1q42.13 / C5 9q33.2
CDC42BPA 1q42.13 / EPRS 1q41CDC42BPA 1q42.13 / PRKG1 10q11.23CDC42BPA 1q42.13 / ZNF678 1q42.13

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;11)(q42;q13) CCND1/CDC42BPA


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;1)(q41;q42) CDC42BPA/EPRS
CDC42BPA/ZNF678 (1q42)
t(1;9)(q42;q33) CDC42BPA/C5
t(1;10)(q42;q11) CDC42BPA/PRKG1


External links

Nomenclature
HGNC (Hugo)CDC42BPA   1737
Cards
Entrez_Gene (NCBI)CDC42BPA  8476  CDC42 binding protein kinase alpha
AliasesMRCK; MRCKA; PK428
GeneCards (Weizmann)CDC42BPA
Ensembl hg19 (Hinxton)ENSG00000143776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143776 [Gene_View]  ENSG00000143776 [Sequence]  chr1:226989865-227318125 [Contig_View]  CDC42BPA [Vega]
ICGC DataPortalENSG00000143776
TCGA cBioPortalCDC42BPA
AceView (NCBI)CDC42BPA
Genatlas (Paris)CDC42BPA
WikiGenes8476
SOURCE (Princeton)CDC42BPA
Genetics Home Reference (NIH)CDC42BPA
Genomic and cartography
GoldenPath hg38 (UCSC)CDC42BPA  -     chr1:226989865-227318125 -  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDC42BPA  -     1q42.13   [Description]    (hg19-Feb_2009)
EnsemblCDC42BPA - 1q42.13 [CytoView hg19]  CDC42BPA - 1q42.13 [CytoView hg38]
Mapping of homologs : NCBICDC42BPA [Mapview hg19]  CDC42BPA [Mapview hg38]
OMIM603412   
Gene and transcription
Genbank (Entrez)AB007920 AB208968 AF250871 AJ518975 AJ518976
RefSeq transcript (Entrez)NM_003607 NM_014826
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDC42BPA
Cluster EST : UnigeneHs.35433 [ NCBI ]
CGAP (NCI)Hs.35433
Alternative Splicing GalleryENSG00000143776
Gene ExpressionCDC42BPA [ NCBI-GEO ]   CDC42BPA [ EBI - ARRAY_EXPRESS ]   CDC42BPA [ SEEK ]   CDC42BPA [ MEM ]
Gene Expression Viewer (FireBrowse)CDC42BPA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8476
GTEX Portal (Tissue expression)CDC42BPA
Human Protein AtlasENSG00000143776-CDC42BPA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VT25   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VT25  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VT25
Splice isoforms : SwissVarQ5VT25
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ5VT25
Domaine pattern : Prosite (Expaxy)AGC_KINASE_CTER (PS51285)    CNH (PS50219)    CRIB (PS50108)    PH_DOMAIN (PS50003)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)AGC-kinase_C    CNH_dom    CRIB_dom    KELK    Kinase-like_dom_sf    Myotonic_dystrophy_kinase_coil    PE/DAG-bd    PH-like_dom_sf    PH_domain    Pkinase_C    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    Ser/Thr_kinase_MRCK_alpha   
Domain families : Pfam (Sanger)C1_1 (PF00130)    CNH (PF00780)    DMPK_coil (PF08826)    KELK (PF15796)    Pkinase (PF00069)    Pkinase_C (PF00433)   
Domain families : Pfam (NCBI)pfam00130    pfam00780    pfam08826    pfam15796    pfam00069    pfam00433   
Domain families : Smart (EMBL)C1 (SM00109)  CNH (SM00036)  PBD (SM00285)  PH (SM00233)  S_TK_X (SM00133)  S_TKc (SM00220)  
Domain structure : Prodom (Prabi Lyon)Myotonic_dystrophy_kinase_coil (PD011252)   
Conserved Domain (NCBI)CDC42BPA
DMDM Disease mutations8476
Blocks (Seattle)CDC42BPA
SuperfamilyQ5VT25
Human Protein Atlas [tissue]ENSG00000143776-CDC42BPA [tissue]
Peptide AtlasQ5VT25
HPRD04562
IPIIPI00640468   IPI00640957   IPI00642165   IPI00654830   IPI00550263   IPI00903296   IPI00329326   IPI00843961   
Protein Interaction databases
DIP (DOE-UCLA)Q5VT25
IntAct (EBI)Q5VT25
FunCoupENSG00000143776
BioGRIDCDC42BPA
STRING (EMBL)CDC42BPA
ZODIACCDC42BPA
Ontologies - Pathways
QuickGOQ5VT25
Ontology : AmiGOmagnesium ion binding  protein serine/threonine kinase activity  protein binding  ATP binding  cytoplasm  cell-cell junction  protein phosphorylation  cell migration  lamellipodium  actomyosin structure organization  cell leading edge  actin cytoskeleton reorganization  intracellular signal transduction  actomyosin  identical protein binding  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  protein serine/threonine kinase activity  protein binding  ATP binding  cytoplasm  cell-cell junction  protein phosphorylation  cell migration  lamellipodium  actomyosin structure organization  cell leading edge  actin cytoskeleton reorganization  intracellular signal transduction  actomyosin  identical protein binding  extracellular exosome  
NDEx NetworkCDC42BPA
Atlas of Cancer Signalling NetworkCDC42BPA
Wikipedia pathwaysCDC42BPA
Orthology - Evolution
OrthoDB8476
GeneTree (enSembl)ENSG00000143776
Phylogenetic Trees/Animal Genes : TreeFamCDC42BPA
HOVERGENQ5VT25
HOGENOMQ5VT25
Homologs : HomoloGeneCDC42BPA
Homology/Alignments : Family Browser (UCSC)CDC42BPA
Gene fusions - Rearrangements
Fusion : MitelmanCDC42BPA/C5 [1q42.13/9q33.2]  
Fusion : MitelmanCDC42BPA/EPRS [1q42.13/1q41]  [t(1;1)(q41;q42)]  
Fusion : MitelmanCDC42BPA/PRKG1 [1q42.13/10q11.23]  [t(1;10)(q42;q11)]  
Fusion : MitelmanCDC42BPA/ZNF678 [1q42.13/1q42.13]  [t(1;1)(q42;q42)]  
Fusion PortalCDC42BPA 1q42.13 C5 9q33.2 LUAD
Fusion PortalCDC42BPA 1q42.13 EPRS 1q41 BRCA
Fusion PortalCDC42BPA 1q42.13 PRKG1 10q11.23 HNSC
Fusion PortalCDC42BPA 1q42.13 ZNF678 1q42.13 PRAD
Fusion : QuiverCDC42BPA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDC42BPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDC42BPA
dbVarCDC42BPA
ClinVarCDC42BPA
1000_GenomesCDC42BPA 
Exome Variant ServerCDC42BPA
ExAC (Exome Aggregation Consortium)ENSG00000143776
GNOMAD BrowserENSG00000143776
Varsome BrowserCDC42BPA
Genetic variants : HAPMAP8476
Genomic Variants (DGV)CDC42BPA [DGVbeta]
DECIPHERCDC42BPA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDC42BPA 
Mutations
ICGC Data PortalCDC42BPA 
TCGA Data PortalCDC42BPA 
Broad Tumor PortalCDC42BPA
OASIS PortalCDC42BPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDC42BPA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDC42BPA
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
BioMutasearch CDC42BPA
DgiDB (Drug Gene Interaction Database)CDC42BPA
DoCM (Curated mutations)CDC42BPA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDC42BPA (select a term)
intoGenCDC42BPA
Cancer3DCDC42BPA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603412   
Orphanet
DisGeNETCDC42BPA
MedgenCDC42BPA
Genetic Testing Registry CDC42BPA
NextProtQ5VT25 [Medical]
TSGene8476
GENETestsCDC42BPA
Target ValidationCDC42BPA
Huge Navigator CDC42BPA [HugePedia]
snp3D : Map Gene to Disease8476
BioCentury BCIQCDC42BPA
ClinGenCDC42BPA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8476
Chemical/Pharm GKB GenePA26267
Clinical trialCDC42BPA
Miscellaneous
canSAR (ICR)CDC42BPA (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDC42BPA
EVEXCDC42BPA
GoPubMedCDC42BPA
iHOPCDC42BPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:14:18 CEST 2018

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