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ARVCF (armadillo repeat gene deleted in velocardiofacial syndrome)

Identity

Other alias-
HGNC (Hugo) ARVCF
LocusID (NCBI) 421
Atlas_Id 52651
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19969879 and ends at 20016786 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARVCF (22q11.21) / ARVCF (22q11.21)ARVCF (22q11.21) / SNTA1 (20q11.21)

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)ARVCF   728
Cards
Entrez_Gene (NCBI)ARVCF  421  armadillo repeat gene deleted in velocardiofacial syndrome
Aliases
GeneCards (Weizmann)ARVCF
Ensembl hg19 (Hinxton)ENSG00000099889 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099889 [Gene_View]  chr22:19969879-20016786 [Contig_View]  ARVCF [Vega]
ICGC DataPortalENSG00000099889
TCGA cBioPortalARVCF
AceView (NCBI)ARVCF
Genatlas (Paris)ARVCF
WikiGenes421
SOURCE (Princeton)ARVCF
Genetics Home Reference (NIH)ARVCF
Genomic and cartography
GoldenPath hg38 (UCSC)ARVCF  -     chr22:19969879-20016786 -  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARVCF  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblARVCF - 22q11.21 [CytoView hg19]  ARVCF - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIARVCF [Mapview hg19]  ARVCF [Mapview hg38]
OMIM602269   
Gene and transcription
Genbank (Entrez)AK092664 AL390148 BC036893 BC137436 BM716184
RefSeq transcript (Entrez)NM_001670
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARVCF
Cluster EST : UnigeneHs.713616 [ NCBI ]
CGAP (NCI)Hs.713616
Alternative Splicing GalleryENSG00000099889
Gene ExpressionARVCF [ NCBI-GEO ]   ARVCF [ EBI - ARRAY_EXPRESS ]   ARVCF [ SEEK ]   ARVCF [ MEM ]
Gene Expression Viewer (FireBrowse)ARVCF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)421
GTEX Portal (Tissue expression)ARVCF
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00192   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00192  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00192
Splice isoforms : SwissVarO00192
PhosPhoSitePlusO00192
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    ARVCF    Plakophilin/d_Catenin   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)ARVCF
DMDM Disease mutations421
Blocks (Seattle)ARVCF
SuperfamilyO00192
Human Protein AtlasENSG00000099889
Peptide AtlasO00192
HPRD03778
IPIIPI00010490   IPI00220492   IPI00879180   IPI00879055   
Protein Interaction databases
DIP (DOE-UCLA)O00192
IntAct (EBI)O00192
FunCoupENSG00000099889
BioGRIDARVCF
STRING (EMBL)ARVCF
ZODIACARVCF
Ontologies - Pathways
QuickGOO00192
Ontology : AmiGOprotein binding  intracellular  nucleus  cytoplasm  plasma membrane  cell adhesion  multicellular organism development  single organismal cell-cell adhesion  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  
Ontology : EGO-EBIprotein binding  intracellular  nucleus  cytoplasm  plasma membrane  cell adhesion  multicellular organism development  single organismal cell-cell adhesion  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  
NDEx NetworkARVCF
Atlas of Cancer Signalling NetworkARVCF
Wikipedia pathwaysARVCF
Orthology - Evolution
OrthoDB421
GeneTree (enSembl)ENSG00000099889
Phylogenetic Trees/Animal Genes : TreeFamARVCF
HOVERGENO00192
HOGENOMO00192
Homologs : HomoloGeneARVCF
Homology/Alignments : Family Browser (UCSC)ARVCF
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARVCF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARVCF
dbVarARVCF
ClinVarARVCF
1000_GenomesARVCF 
Exome Variant ServerARVCF
ExAC (Exome Aggregation Consortium)ARVCF (select the gene name)
Genetic variants : HAPMAP421
Genomic Variants (DGV)ARVCF [DGVbeta]
DECIPHERARVCF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARVCF 
Mutations
ICGC Data PortalARVCF 
TCGA Data PortalARVCF 
Broad Tumor PortalARVCF
OASIS PortalARVCF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARVCF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARVCF
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 ARVCF
DgiDB (Drug Gene Interaction Database)ARVCF
DoCM (Curated mutations)ARVCF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARVCF (select a term)
intoGenARVCF
Cancer3DARVCF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602269   
Orphanet126   
MedgenARVCF
Genetic Testing Registry ARVCF
NextProtO00192 [Medical]
TSGene421
GENETestsARVCF
Huge Navigator ARVCF [HugePedia]
snp3D : Map Gene to Disease421
BioCentury BCIQARVCF
ClinGenARVCF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD421
Chemical/Pharm GKB GenePA25018
Clinical trialARVCF
Miscellaneous
canSAR (ICR)ARVCF (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARVCF
EVEXARVCF
GoPubMedARVCF
iHOPARVCF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:06:51 CEST 2017

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