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

CAVIN1 (caveolae associated protein 1)

Identity

Other aliasCAVIN
CGL4
FKSG13
PTRF
cavin-1
HGNC (Hugo) CAVIN1
LocusID (NCBI) 284119
Atlas_Id 56788
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42402449 and ends at 42423320 bp from pter ( according to hg38-Dec_2013)

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)CAVIN1   9688
Cards
Entrez_Gene (NCBI)CAVIN1  284119  caveolae associated protein 1
AliasesCAVIN; CGL4; FKSG13; PTRF; 
cavin-1
GeneCards (Weizmann)CAVIN1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:42402449-42423320 [Contig_View]  CAVIN1 [Vega]
TCGA cBioPortalCAVIN1
AceView (NCBI)CAVIN1
Genatlas (Paris)CAVIN1
WikiGenes284119
SOURCE (Princeton)CAVIN1
Genetics Home Reference (NIH)CAVIN1
Genomic and cartography
GoldenPath hg38 (UCSC)CAVIN1  -     chr17:42402449-42423320 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAVIN1  -     17q21.2   [Description]    (hg19-Feb_2009)
EnsemblCAVIN1 - 17q21.2 [CytoView hg19]  CAVIN1 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBICAVIN1 [Mapview hg19]  CAVIN1 [Mapview hg38]
OMIM603198   613327   
Gene and transcription
Genbank (Entrez)AF000421 AF312393 AK000715 AK074512 AK092406
RefSeq transcript (Entrez)NM_012232
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAVIN1
Cluster EST : UnigeneHs.437191 [ NCBI ]
CGAP (NCI)Hs.437191
Gene ExpressionCAVIN1 [ NCBI-GEO ]   CAVIN1 [ EBI - ARRAY_EXPRESS ]   CAVIN1 [ SEEK ]   CAVIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAVIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284119
GTEX Portal (Tissue expression)CAVIN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NZI2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NZI2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NZI2
Splice isoforms : SwissVarQ6NZI2
PhosPhoSitePlusQ6NZI2
Domains : Interpro (EBI)Cavin_fam    PTRF   
Domain families : Pfam (Sanger)PTRF_SDPR (PF15237)   
Domain families : Pfam (NCBI)pfam15237   
Conserved Domain (NCBI)CAVIN1
DMDM Disease mutations284119
Blocks (Seattle)CAVIN1
SuperfamilyQ6NZI2
Peptide AtlasQ6NZI2
IPIIPI00176903   IPI00513773   IPI01014936   IPI00514023   
Protein Interaction databases
DIP (DOE-UCLA)Q6NZI2
IntAct (EBI)Q6NZI2
BioGRIDCAVIN1
STRING (EMBL)CAVIN1
ZODIACCAVIN1
Ontologies - Pathways
QuickGOQ6NZI2
Ontology : AmiGORNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  cytosol  plasma membrane  caveola  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase I promoter  termination of RNA polymerase I transcription  termination of RNA polymerase I transcription  rRNA primary transcript binding  intracellular membrane-bounded organelle  protein complex  membrane raft  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  cytosol  plasma membrane  caveola  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase I promoter  termination of RNA polymerase I transcription  termination of RNA polymerase I transcription  rRNA primary transcript binding  intracellular membrane-bounded organelle  protein complex  membrane raft  
NDEx NetworkCAVIN1
Atlas of Cancer Signalling NetworkCAVIN1
Wikipedia pathwaysCAVIN1
Orthology - Evolution
OrthoDB284119
Phylogenetic Trees/Animal Genes : TreeFamCAVIN1
HOVERGENQ6NZI2
HOGENOMQ6NZI2
Homologs : HomoloGeneCAVIN1
Homology/Alignments : Family Browser (UCSC)CAVIN1
Gene fusions - Rearrangements
Fusion : MitelmanSTAT3/PTRF [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAVIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAVIN1
dbVarCAVIN1
ClinVarCAVIN1
1000_GenomesCAVIN1 
Exome Variant ServerCAVIN1
ExAC (Exome Aggregation Consortium)CAVIN1 (select the gene name)
Genetic variants : HAPMAP284119
Genomic Variants (DGV)CAVIN1 [DGVbeta]
DECIPHERCAVIN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAVIN1 
Mutations
ICGC Data PortalCAVIN1 
TCGA Data PortalCAVIN1 
Broad Tumor PortalCAVIN1
OASIS PortalCAVIN1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCAVIN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CAVIN1
DgiDB (Drug Gene Interaction Database)CAVIN1
DoCM (Curated mutations)CAVIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAVIN1 (select a term)
intoGenCAVIN1
Cancer3DCAVIN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603198    613327   
Orphanet
MedgenCAVIN1
Genetic Testing Registry CAVIN1
NextProtQ6NZI2 [Medical]
TSGene284119
GENETestsCAVIN1
Target ValidationCAVIN1
Huge Navigator CAVIN1 [HugePedia]
snp3D : Map Gene to Disease284119
BioCentury BCIQCAVIN1
ClinGenCAVIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284119
Chemical/Pharm GKB GenePA34031
Clinical trialCAVIN1
Miscellaneous
canSAR (ICR)CAVIN1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAVIN1
EVEXCAVIN1
GoPubMedCAVIN1
iHOPCAVIN1
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 : Mon Sep 25 19:00:38 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.