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CPLANE1 (ciliogenesis and planar polarity effector 1)

Identity

Other aliasC5orf42
Hug
JBTS17
OFD6
HGNC (Hugo) CPLANE1
LocusID (NCBI) 65250
Atlas_Id 80380
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 37106228 and ends at 37249428 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)
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


External links

Nomenclature
HGNC (Hugo)CPLANE1   25801
Cards
Entrez_Gene (NCBI)CPLANE1  65250  ciliogenesis and planar polarity effector 1
AliasesC5orf42; Hug; JBTS17; OFD6
GeneCards (Weizmann)CPLANE1
Ensembl hg19 (Hinxton)ENSG00000197603 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197603 [Gene_View]  ENSG00000197603 [Sequence]  chr5:37106228-37249428 [Contig_View]  CPLANE1 [Vega]
ICGC DataPortalENSG00000197603
TCGA cBioPortalCPLANE1
AceView (NCBI)CPLANE1
Genatlas (Paris)CPLANE1
WikiGenes65250
SOURCE (Princeton)CPLANE1
Genetics Home Reference (NIH)CPLANE1
Genomic and cartography
GoldenPath hg38 (UCSC)CPLANE1  -     chr5:37106228-37249428 -  5p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPLANE1  -     5p13.2   [Description]    (hg19-Feb_2009)
GoldenPathCPLANE1 - 5p13.2 [CytoView hg19]  CPLANE1 - 5p13.2 [CytoView hg38]
ImmunoBaseENSG00000197603
Mapping of homologs : NCBICPLANE1 [Mapview hg19]  CPLANE1 [Mapview hg38]
OMIM277170   614571   614615   
Gene and transcription
Genbank (Entrez)AK022380 AK023293 AK024779 AK026735 AK055192
RefSeq transcript (Entrez)NM_023073
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CPLANE1
Cluster EST : UnigeneHs.634653 [ NCBI ]
CGAP (NCI)Hs.634653
Alternative Splicing GalleryENSG00000197603
Gene ExpressionCPLANE1 [ NCBI-GEO ]   CPLANE1 [ EBI - ARRAY_EXPRESS ]   CPLANE1 [ SEEK ]   CPLANE1 [ MEM ]
Gene Expression Viewer (FireBrowse)CPLANE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65250
GTEX Portal (Tissue expression)CPLANE1
Human Protein AtlasENSG00000197603-CPLANE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H799   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H799  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H799
Splice isoforms : SwissVarQ9H799
PhosPhoSitePlusQ9H799
Domains : Interpro (EBI)JBTS17   
Domain families : Pfam (Sanger)Joubert (PF15392)   
Domain families : Pfam (NCBI)pfam15392   
Conserved Domain (NCBI)CPLANE1
DMDM Disease mutations65250
Blocks (Seattle)CPLANE1
SuperfamilyQ9H799
Human Protein Atlas [tissue]ENSG00000197603-CPLANE1 [tissue]
Peptide AtlasQ9H799
IPIIPI00872724   IPI00395010   IPI00890819   IPI01026574   IPI00953099   IPI00011986   IPI00965700   
Protein Interaction databases
DIP (DOE-UCLA)Q9H799
IntAct (EBI)Q9H799
FunCoupENSG00000197603
BioGRIDCPLANE1
STRING (EMBL)CPLANE1
ZODIACCPLANE1
Ontologies - Pathways
QuickGOQ9H799
Ontology : AmiGOestablishment of planar polarity  kidney development  ventricular septum development  integral component of membrane  cerebellum development  ciliary transition zone  embryonic digit morphogenesis  roof of mouth development  cilium assembly  cilium assembly  coronary vasculature development  protein localization to ciliary transition zone  
Ontology : EGO-EBIestablishment of planar polarity  kidney development  ventricular septum development  integral component of membrane  cerebellum development  ciliary transition zone  embryonic digit morphogenesis  roof of mouth development  cilium assembly  cilium assembly  coronary vasculature development  protein localization to ciliary transition zone  
NDEx NetworkCPLANE1
Atlas of Cancer Signalling NetworkCPLANE1
Wikipedia pathwaysCPLANE1
Orthology - Evolution
OrthoDB65250
GeneTree (enSembl)ENSG00000197603
Phylogenetic Trees/Animal Genes : TreeFamCPLANE1
HOGENOMQ9H799
Homologs : HomoloGeneCPLANE1
Homology/Alignments : Family Browser (UCSC)CPLANE1
Gene fusions - Rearrangements
Fusion : QuiverCPLANE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPLANE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPLANE1
dbVarCPLANE1
ClinVarCPLANE1
1000_GenomesCPLANE1 
Exome Variant ServerCPLANE1
ExAC (Exome Aggregation Consortium)ENSG00000197603
GNOMAD BrowserENSG00000197603
Varsome BrowserCPLANE1
Genetic variants : HAPMAP65250
Genomic Variants (DGV)CPLANE1 [DGVbeta]
DECIPHERCPLANE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCPLANE1 
Mutations
ICGC Data PortalCPLANE1 
TCGA Data PortalCPLANE1 
Broad Tumor PortalCPLANE1
OASIS PortalCPLANE1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCPLANE1
BioMutasearch CPLANE1
DgiDB (Drug Gene Interaction Database)CPLANE1
DoCM (Curated mutations)CPLANE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPLANE1 (select a term)
intoGenCPLANE1
Cancer3DCPLANE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM277170    614571    614615   
Orphanet
DisGeNETCPLANE1
MedgenCPLANE1
Genetic Testing Registry CPLANE1
NextProtQ9H799 [Medical]
TSGene65250
GENETestsCPLANE1
Target ValidationCPLANE1
Huge Navigator CPLANE1 [HugePedia]
snp3D : Map Gene to Disease65250
BioCentury BCIQCPLANE1
ClinGenCPLANE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65250
Chemical/Pharm GKB GenePA162380188
Clinical trialCPLANE1
Miscellaneous
canSAR (ICR)CPLANE1 (select the gene name)
DataMed IndexCPLANE1
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPLANE1
EVEXCPLANE1
GoPubMedCPLANE1
iHOPCPLANE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:24:31 CEST 2019

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