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EMILIN3 (elastin microfibril interfacer 3)

Identity

Alias (NCBI)C20orf130
EMILIN5
dJ620E11.4
HGNC (Hugo) EMILIN3
HGNC Alias symbdJ620E11.4
HGNC Alias namechromosome 20 open reading frame 130
HGNC Previous nameC20orf130
 EMILIN5
HGNC Previous nameelastin microfibril interfacer 5
LocusID (NCBI) 90187
Atlas_Id 50101
Location 20q12  [Link to chromosome band 20q12]
Location_base_pair Starts at 41359963 and ends at 41366818 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)
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    elastin microfibril interfacer 3
AliasesC20orf130; EMILIN5; dJ620E11.4
GeneCards (Weizmann)EMILIN3
Ensembl hg19 (Hinxton)ENSG00000183798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183798 [Gene_View]  ENSG00000183798 [Sequence]  chr20:41359963-41366818 [Contig_View]  EMILIN3 [Vega]
ICGC DataPortalENSG00000183798
TCGA cBioPortalEMILIN3
AceView (NCBI)EMILIN3
Genatlas (Paris)EMILIN3
SOURCE (Princeton)EMILIN3
Genetics Home Reference (NIH)EMILIN3
Genomic and cartography
GoldenPath hg38 (UCSC)EMILIN3  -     chr20:41359963-41366818 -  20q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMILIN3  -     20q12   [Description]    (hg19-Feb_2009)
GoldenPathEMILIN3 - 20q12 [CytoView hg19]  EMILIN3 - 20q12 [CytoView hg38]
ImmunoBaseENSG00000183798
Genome Data Viewer NCBIEMILIN3 [Mapview hg19]  
OMIM608929   
Gene and transcription
Genbank (Entrez)AB089149 AL137580 BC101043 BC101044 BC101045
RefSeq transcript (Entrez)NM_052846
Consensus coding sequences : CCDS (NCBI)EMILIN3
Gene ExpressionEMILIN3 [ NCBI-GEO ]   EMILIN3 [ EBI - ARRAY_EXPRESS ]   EMILIN3 [ SEEK ]   EMILIN3 [ MEM ]
Gene Expression Viewer (FireBrowse)EMILIN3 [ Firebrowse - Broad ]
GenevisibleExpression of EMILIN3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90187
GTEX Portal (Tissue expression)EMILIN3
Human Protein AtlasENSG00000183798-EMILIN3 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ9NT22
AlphaFold pdb e-kbQ9NT22   
Human Protein Atlas [tissue]ENSG00000183798-EMILIN3 [tissue]
HPRD12335
Protein Interaction databases
DIP (DOE-UCLA)Q9NT22
IntAct (EBI)Q9NT22
BioGRIDEMILIN3
STRING (EMBL)EMILIN3
ZODIACEMILIN3
Ontologies - Pathways
QuickGOQ9NT22
Ontology : AmiGOprotein binding  extracellular region  cytoplasm  extracellular matrix constituent conferring elasticity  extracellular matrix constituent conferring elasticity  identical protein binding  collagen-containing extracellular matrix  collagen-containing extracellular matrix  
Ontology : EGO-EBIprotein binding  extracellular region  cytoplasm  extracellular matrix constituent conferring elasticity  extracellular matrix constituent conferring elasticity  identical protein binding  collagen-containing extracellular matrix  collagen-containing extracellular matrix  
NDEx NetworkEMILIN3
Atlas of Cancer Signalling NetworkEMILIN3
Wikipedia pathwaysEMILIN3
Orthology - Evolution
OrthoDB90187
GeneTree (enSembl)ENSG00000183798
Phylogenetic Trees/Animal Genes : TreeFamEMILIN3
Homologs : HomoloGeneEMILIN3
Homology/Alignments : Family Browser (UCSC)EMILIN3
Gene fusions - Rearrangements
Fusion : MitelmanPMEPA1/EMILIN3 [20q13.31/20q12]  
Fusion : QuiverEMILIN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMILIN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMILIN3
dbVarEMILIN3
ClinVarEMILIN3
MonarchEMILIN3
1000_GenomesEMILIN3 
Exome Variant ServerEMILIN3
GNOMAD BrowserENSG00000183798
Varsome BrowserEMILIN3
ACMGEMILIN3 variants
VarityQ9NT22
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]  
Somatic Mutations in Cancer : COSMIC3DEMILIN3
Mutations and Diseases : HGMDEMILIN3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEMILIN3
DgiDB (Drug Gene Interaction Database)EMILIN3
DoCM (Curated mutations)EMILIN3
CIViC (Clinical Interpretations of Variants in Cancer)EMILIN3
Cancer3DEMILIN3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608929   
Orphanet
DisGeNETEMILIN3
MedgenEMILIN3
Genetic Testing Registry EMILIN3
NextProtQ9NT22 [Medical]
GENETestsEMILIN3
Target ValidationEMILIN3
Huge Navigator EMILIN3 [HugePedia]
ClinGenEMILIN3
Clinical trials, drugs, therapy
MyCancerGenomeEMILIN3
Protein Interactions : CTDEMILIN3
Pharm GKB GenePA164741521
PharosQ9NT22
Clinical trialEMILIN3
Miscellaneous
canSAR (ICR)EMILIN3
HarmonizomeEMILIN3
DataMed IndexEMILIN3
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEMILIN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:08:08 CEST 2021

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