Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EMILIN1 (elastin microfibril interfacer 1)

Identity

Alias_symbol (synonym)DKFZp586M121
gp115
Other aliasEMI
EMILIN
HGNC (Hugo) EMILIN1
LocusID (NCBI) 11117
Atlas_Id 62820
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27078567 and ends at 27086397 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COL1A1 (17q21.33) / EMILIN1 (2p23.3)EMILIN1 (2p23.3) / ARG2 (14q24.1)EMILIN1 (2p23.3) / EMILIN1 (2p23.3)
EMILIN1 (2p23.3) / RPL3 (22q13.1)ENG (9q34.11) / EMILIN1 (2p23.3)NHSL1 (6q23.3) / EMILIN1 (2p23.3)

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)EMILIN1   19880
Cards
Entrez_Gene (NCBI)EMILIN1  11117  elastin microfibril interfacer 1
AliasesEMI; EMILIN; gp115
GeneCards (Weizmann)EMILIN1
Ensembl hg19 (Hinxton)ENSG00000138080 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138080 [Gene_View]  chr2:27078567-27086397 [Contig_View]  EMILIN1 [Vega]
ICGC DataPortalENSG00000138080
TCGA cBioPortalEMILIN1
AceView (NCBI)EMILIN1
Genatlas (Paris)EMILIN1
WikiGenes11117
SOURCE (Princeton)EMILIN1
Genetics Home Reference (NIH)EMILIN1
Genomic and cartography
GoldenPath hg38 (UCSC)EMILIN1  -     chr2:27078567-27086397 +  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMILIN1  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblEMILIN1 - 2p23.3 [CytoView hg19]  EMILIN1 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIEMILIN1 [Mapview hg19]  EMILIN1 [Mapview hg38]
OMIM130660   
Gene and transcription
Genbank (Entrez)AF088916 AK075517 AK307539 AL050138 AL552691
RefSeq transcript (Entrez)NM_007046
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMILIN1
Cluster EST : UnigeneHs.63348 [ NCBI ]
CGAP (NCI)Hs.63348
Alternative Splicing GalleryENSG00000138080
Gene ExpressionEMILIN1 [ NCBI-GEO ]   EMILIN1 [ EBI - ARRAY_EXPRESS ]   EMILIN1 [ SEEK ]   EMILIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMILIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11117
GTEX Portal (Tissue expression)EMILIN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6C2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6C2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6C2
Splice isoforms : SwissVarQ9Y6C2
PhosPhoSitePlusQ9Y6C2
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)    EMI (PS51041)   
Domains : Interpro (EBI)C1q_dom    Collagen    EMI_domain    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    Collagen (PF01391)    EMI (PF07546)   
Domain families : Pfam (NCBI)pfam00386    pfam01391    pfam07546   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)EMILIN1
DMDM Disease mutations11117
Blocks (Seattle)EMILIN1
PDB (SRS)2KA3    2OII   
PDB (PDBSum)2KA3    2OII   
PDB (IMB)2KA3    2OII   
PDB (RSDB)2KA3    2OII   
Structural Biology KnowledgeBase2KA3    2OII   
SCOP (Structural Classification of Proteins)2KA3    2OII   
CATH (Classification of proteins structures)2KA3    2OII   
SuperfamilyQ9Y6C2
Human Protein AtlasENSG00000138080
Peptide AtlasQ9Y6C2
HPRD00563
IPIIPI00013079   IPI00893443   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6C2
IntAct (EBI)Q9Y6C2
FunCoupENSG00000138080
BioGRIDEMILIN1
STRING (EMBL)EMILIN1
ZODIACEMILIN1
Ontologies - Pathways
QuickGOQ9Y6C2
Ontology : AmiGOprotein binding  extracellular region  proteinaceous extracellular matrix  collagen trimer  extracellular space  cell adhesion  cell-matrix adhesion  cell migration  extracellular matrix constituent conferring elasticity  extracellular matrix  extracellular matrix  extracellular matrix  integrin alpha4-beta1 complex  identical protein binding  identical protein binding  extracellular exosome  protein homotrimerization  integrin binding involved in cell-matrix adhesion  EMILIN complex  
Ontology : EGO-EBIprotein binding  extracellular region  proteinaceous extracellular matrix  collagen trimer  extracellular space  cell adhesion  cell-matrix adhesion  cell migration  extracellular matrix constituent conferring elasticity  extracellular matrix  extracellular matrix  extracellular matrix  integrin alpha4-beta1 complex  identical protein binding  identical protein binding  extracellular exosome  protein homotrimerization  integrin binding involved in cell-matrix adhesion  EMILIN complex  
NDEx NetworkEMILIN1
Atlas of Cancer Signalling NetworkEMILIN1
Wikipedia pathwaysEMILIN1
Orthology - Evolution
OrthoDB11117
GeneTree (enSembl)ENSG00000138080
Phylogenetic Trees/Animal Genes : TreeFamEMILIN1
HOVERGENQ9Y6C2
HOGENOMQ9Y6C2
Homologs : HomoloGeneEMILIN1
Homology/Alignments : Family Browser (UCSC)EMILIN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMILIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMILIN1
dbVarEMILIN1
ClinVarEMILIN1
1000_GenomesEMILIN1 
Exome Variant ServerEMILIN1
ExAC (Exome Aggregation Consortium)EMILIN1 (select the gene name)
Genetic variants : HAPMAP11117
Genomic Variants (DGV)EMILIN1 [DGVbeta]
DECIPHEREMILIN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMILIN1 
Mutations
ICGC Data PortalEMILIN1 
TCGA Data PortalEMILIN1 
Broad Tumor PortalEMILIN1
OASIS PortalEMILIN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEMILIN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEMILIN1
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 EMILIN1
DgiDB (Drug Gene Interaction Database)EMILIN1
DoCM (Curated mutations)EMILIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMILIN1 (select a term)
intoGenEMILIN1
Cancer3DEMILIN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130660   
Orphanet
MedgenEMILIN1
Genetic Testing Registry EMILIN1
NextProtQ9Y6C2 [Medical]
TSGene11117
GENETestsEMILIN1
Target ValidationEMILIN1
Huge Navigator EMILIN1 [HugePedia]
snp3D : Map Gene to Disease11117
BioCentury BCIQEMILIN1
ClinGenEMILIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11117
Chemical/Pharm GKB GenePA134922135
Clinical trialEMILIN1
Miscellaneous
canSAR (ICR)EMILIN1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMILIN1
EVEXEMILIN1
GoPubMedEMILIN1
iHOPEMILIN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:47:06 CEST 2017

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