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EMILIN3 (elastin microfibril interfacer 3)

Identity

Alias_namesC20orf130
EMILIN5
elastin microfibril interfacer 5
Alias_symbol (synonym)dJ620E11.4
Other alias
HGNC (Hugo) EMILIN3
LocusID (NCBI) 90187
Atlas_Id 50101
Location 20q12  [Link to chromosome band 20q12]
Location_base_pair Starts at 41359966 and ends at 41366858 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PMEPA1 (20q13.31) / EMILIN3 (20q12)PMEPA1 20q13.31 / EMILIN3 20q12

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)EMILIN3   16123
Cards
Entrez_Gene (NCBI)EMILIN3  90187  elastin microfibril interfacer 3
AliasesC20orf130; EMILIN5; dJ620E11.4
GeneCards (Weizmann)EMILIN3
Ensembl hg19 (Hinxton)ENSG00000183798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183798 [Gene_View]  chr20:41359966-41366858 [Contig_View]  EMILIN3 [Vega]
ICGC DataPortalENSG00000183798
TCGA cBioPortalEMILIN3
AceView (NCBI)EMILIN3
Genatlas (Paris)EMILIN3
WikiGenes90187
SOURCE (Princeton)EMILIN3
Genetics Home Reference (NIH)EMILIN3
Genomic and cartography
GoldenPath hg38 (UCSC)EMILIN3  -     chr20:41359966-41366858 -  20q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMILIN3  -     20q12   [Description]    (hg19-Feb_2009)
EnsemblEMILIN3 - 20q12 [CytoView hg19]  EMILIN3 - 20q12 [CytoView hg38]
Mapping of homologs : NCBIEMILIN3 [Mapview hg19]  EMILIN3 [Mapview hg38]
OMIM608929   
Gene and transcription
Genbank (Entrez)AB089149 AL137580 BC101043 BC101044 BC101045
RefSeq transcript (Entrez)NM_052846
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMILIN3
Cluster EST : UnigeneHs.726525 [ NCBI ]
CGAP (NCI)Hs.726525
Alternative Splicing GalleryENSG00000183798
Gene ExpressionEMILIN3 [ NCBI-GEO ]   EMILIN3 [ EBI - ARRAY_EXPRESS ]   EMILIN3 [ SEEK ]   EMILIN3 [ MEM ]
Gene Expression Viewer (FireBrowse)EMILIN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90187
GTEX Portal (Tissue expression)EMILIN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NT22   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NT22  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NT22
Splice isoforms : SwissVarQ9NT22
PhosPhoSitePlusQ9NT22
Domaine pattern : Prosite (Expaxy)EMI (PS51041)   
Domains : Interpro (EBI)EMI_domain   
Domain families : Pfam (Sanger)EMI (PF07546)   
Domain families : Pfam (NCBI)pfam07546   
Conserved Domain (NCBI)EMILIN3
DMDM Disease mutations90187
Blocks (Seattle)EMILIN3
SuperfamilyQ9NT22
Human Protein AtlasENSG00000183798
Peptide AtlasQ9NT22
HPRD12335
IPIIPI00011730   
Protein Interaction databases
DIP (DOE-UCLA)Q9NT22
IntAct (EBI)Q9NT22
FunCoupENSG00000183798
BioGRIDEMILIN3
STRING (EMBL)EMILIN3
ZODIACEMILIN3
Ontologies - Pathways
QuickGOQ9NT22
Ontology : AmiGOproteinaceous extracellular matrix  cytoplasm  extracellular matrix  extracellular matrix  
Ontology : EGO-EBIproteinaceous extracellular matrix  cytoplasm  extracellular matrix  extracellular matrix  
NDEx NetworkEMILIN3
Atlas of Cancer Signalling NetworkEMILIN3
Wikipedia pathwaysEMILIN3
Orthology - Evolution
OrthoDB90187
GeneTree (enSembl)ENSG00000183798
Phylogenetic Trees/Animal Genes : TreeFamEMILIN3
HOVERGENQ9NT22
HOGENOMQ9NT22
Homologs : HomoloGeneEMILIN3
Homology/Alignments : Family Browser (UCSC)EMILIN3
Gene fusions - Rearrangements
Fusion : MitelmanPMEPA1/EMILIN3 [20q13.31/20q12]  [t(20;20)(q12;q13)]  
Fusion: TCGAPMEPA1 20q13.31 EMILIN3 20q12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMILIN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMILIN3
dbVarEMILIN3
ClinVarEMILIN3
1000_GenomesEMILIN3 
Exome Variant ServerEMILIN3
ExAC (Exome Aggregation Consortium)EMILIN3 (select the gene name)
Genetic variants : HAPMAP90187
Genomic Variants (DGV)EMILIN3 [DGVbeta]
DECIPHEREMILIN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMILIN3 
Mutations
ICGC Data PortalEMILIN3 
TCGA Data PortalEMILIN3 
Broad Tumor PortalEMILIN3
OASIS PortalEMILIN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEMILIN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEMILIN3
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 EMILIN3
DgiDB (Drug Gene Interaction Database)EMILIN3
DoCM (Curated mutations)EMILIN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMILIN3 (select a term)
intoGenEMILIN3
Cancer3DEMILIN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608929   
Orphanet
MedgenEMILIN3
Genetic Testing Registry EMILIN3
NextProtQ9NT22 [Medical]
TSGene90187
GENETestsEMILIN3
Target ValidationEMILIN3
Huge Navigator EMILIN3 [HugePedia]
snp3D : Map Gene to Disease90187
BioCentury BCIQEMILIN3
ClinGenEMILIN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90187
Chemical/Pharm GKB GenePA164741521
Clinical trialEMILIN3
Miscellaneous
canSAR (ICR)EMILIN3 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMILIN3
EVEXEMILIN3
GoPubMedEMILIN3
iHOPEMILIN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:32:33 CEST 2017

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