Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EVC (EvC ciliary complex subunit 1)

Identity

Alias_namesEllis van Creveld syndrome
Ellis van Creveld protein
Alias_symbol (synonym)DWF-1
Other aliasEVC1
EVCL
HGNC (Hugo) EVC
LocusID (NCBI) 2121
Atlas_Id 62934
Location 4p16.2  [Link to chromosome band 4p16]
Location_base_pair Starts at 5711197 and ends at 5814304 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)
DDX39B (6p21.33) / EVC (4p16.2)EVC (4p16.2) / CRMP1 (4p16.2)EVC (4p16.2) / P2RX7 (12q24.31)
EVC (4p16.2) / WDR60 (7q36.3)TBC1D14 (4p16.1) / EVC (4p16.2)UMPS (3q21.2) / EVC (4p16.2)

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)EVC   3497
Cards
Entrez_Gene (NCBI)EVC  2121  EvC ciliary complex subunit 1
AliasesDWF-1; EVC1; EVCL
GeneCards (Weizmann)EVC
Ensembl hg19 (Hinxton)ENSG00000072840 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072840 [Gene_View]  chr4:5711197-5814304 [Contig_View]  EVC [Vega]
ICGC DataPortalENSG00000072840
TCGA cBioPortalEVC
AceView (NCBI)EVC
Genatlas (Paris)EVC
WikiGenes2121
SOURCE (Princeton)EVC
Genetics Home Reference (NIH)EVC
Genomic and cartography
GoldenPath hg38 (UCSC)EVC  -     chr4:5711197-5814304 +  4p16.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EVC  -     4p16.2   [Description]    (hg19-Feb_2009)
EnsemblEVC - 4p16.2 [CytoView hg19]  EVC - 4p16.2 [CytoView hg38]
Mapping of homologs : NCBIEVC [Mapview hg19]  EVC [Mapview hg38]
OMIM193530   225500   604831   
Gene and transcription
Genbank (Entrez)AF216184 AF216185 AF239742 AK025394 BC085608
RefSeq transcript (Entrez)NM_001306090 NM_001306092 NM_014556 NM_153717
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EVC
Cluster EST : UnigeneHs.649902 [ NCBI ]
CGAP (NCI)Hs.649902
Alternative Splicing GalleryENSG00000072840
Gene ExpressionEVC [ NCBI-GEO ]   EVC [ EBI - ARRAY_EXPRESS ]   EVC [ SEEK ]   EVC [ MEM ]
Gene Expression Viewer (FireBrowse)EVC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2121
GTEX Portal (Tissue expression)EVC
Human Protein AtlasENSG00000072840-EVC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57679   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP57679  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP57679
Splice isoforms : SwissVarP57679
PhosPhoSitePlusP57679
Domains : Interpro (EBI)Evc    Limbin/Ellis-van_Creveld   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EVC
DMDM Disease mutations2121
Blocks (Seattle)EVC
SuperfamilyP57679
Human Protein Atlas [tissue]ENSG00000072840-EVC [tissue]
Peptide AtlasP57679
HPRD05319
IPIIPI00027718   IPI00963827   
Protein Interaction databases
DIP (DOE-UCLA)P57679
IntAct (EBI)P57679
FunCoupENSG00000072840
BioGRIDEVC
STRING (EMBL)EVC
ZODIACEVC
Ontologies - Pathways
QuickGOP57679
Ontology : AmiGOskeletal system development  endochondral bone growth  cytoplasm  cilium  smoothened signaling pathway  muscle organ development  integral component of membrane  ciliary basal body  positive regulation of smoothened signaling pathway  cartilage development  ciliary membrane  
Ontology : EGO-EBIskeletal system development  endochondral bone growth  cytoplasm  cilium  smoothened signaling pathway  muscle organ development  integral component of membrane  ciliary basal body  positive regulation of smoothened signaling pathway  cartilage development  ciliary membrane  
NDEx NetworkEVC
Atlas of Cancer Signalling NetworkEVC
Wikipedia pathwaysEVC
Orthology - Evolution
OrthoDB2121
GeneTree (enSembl)ENSG00000072840
Phylogenetic Trees/Animal Genes : TreeFamEVC
HOVERGENP57679
HOGENOMP57679
Homologs : HomoloGeneEVC
Homology/Alignments : Family Browser (UCSC)EVC
Gene fusions - Rearrangements
Fusion: Tumor Portal EVC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEVC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EVC
dbVarEVC
ClinVarEVC
1000_GenomesEVC 
Exome Variant ServerEVC
ExAC (Exome Aggregation Consortium)ENSG00000072840
GNOMAD BrowserENSG00000072840
Genetic variants : HAPMAP2121
Genomic Variants (DGV)EVC [DGVbeta]
DECIPHEREVC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEVC 
Mutations
ICGC Data PortalEVC 
TCGA Data PortalEVC 
Broad Tumor PortalEVC
OASIS PortalEVC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEVC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEVC
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 EVC
DgiDB (Drug Gene Interaction Database)EVC
DoCM (Curated mutations)EVC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EVC (select a term)
intoGenEVC
Cancer3DEVC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193530    225500    604831   
Orphanet287    1272   
MedgenEVC
Genetic Testing Registry EVC
NextProtP57679 [Medical]
TSGene2121
GENETestsEVC
Target ValidationEVC
Huge Navigator EVC [HugePedia]
snp3D : Map Gene to Disease2121
BioCentury BCIQEVC
ClinGenEVC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2121
Chemical/Pharm GKB GenePA27911
Clinical trialEVC
Miscellaneous
canSAR (ICR)EVC (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEVC
EVEXEVC
GoPubMedEVC
iHOPEVC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:46:12 CET 2017

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