Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EMILIN1 (elastin microfibril interfacer 1)

Identity

Other aliasEMI
EMILIN
gp115
HGNC (Hugo) EMILIN1
LocusID (NCBI) 11117
Atlas_Id 57392
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 27078567 and ends at 27086397 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)
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) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr2:27078567-27086397 [Contig_View]  EMILIN1 [Vega]
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 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMILIN1  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblEMILIN1 - 16p13.3 [CytoView hg19]  EMILIN1 - 16p13.3 [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
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]
GenevestigatorExpression 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
Peptide AtlasQ9Y6C2
IPIIPI00013079   IPI00893443   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6C2
IntAct (EBI)Q9Y6C2
BioGRIDEMILIN1
STRING (EMBL)EMILIN1
ZODIACEMILIN1
Ontologies - Pathways
QuickGOQ9Y6C2
Ontology : AmiGOaortic valve morphogenesis  protein binding  extracellular region  collagen trimer  extracellular space  cell adhesion  cell-matrix adhesion  positive regulation of gene expression  negative regulation of gene expression  positive regulation of cell-substrate adhesion  positive regulation of cell-substrate adhesion  cell migration  negative regulation of angiogenesis  extracellular matrix constituent conferring elasticity  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of vascular endothelial growth factor receptor signaling pathway  extracellular matrix  extracellular matrix  extracellular matrix  integrin alpha4-beta1 complex  identical protein binding  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  elastic fiber assembly  negative regulation of cell activation  negative regulation of pathway-restricted SMAD protein phosphorylation  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  protein homotrimerization  negative regulation of ERK1 and ERK2 cascade  integrin binding involved in cell-matrix adhesion  positive regulation of extracellular matrix assembly  negative regulation of collagen fibril organization  negative regulation of macrophage migration  EMILIN complex  
Ontology : EGO-EBIaortic valve morphogenesis  protein binding  extracellular region  collagen trimer  extracellular space  cell adhesion  cell-matrix adhesion  positive regulation of gene expression  negative regulation of gene expression  positive regulation of cell-substrate adhesion  positive regulation of cell-substrate adhesion  cell migration  negative regulation of angiogenesis  extracellular matrix constituent conferring elasticity  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of vascular endothelial growth factor receptor signaling pathway  extracellular matrix  extracellular matrix  extracellular matrix  integrin alpha4-beta1 complex  identical protein binding  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  elastic fiber assembly  negative regulation of cell activation  negative regulation of pathway-restricted SMAD protein phosphorylation  collagen-containing extracellular matrix  collagen-containing extracellular matrix  extracellular exosome  protein homotrimerization  negative regulation of ERK1 and ERK2 cascade  integrin binding involved in cell-matrix adhesion  positive regulation of extracellular matrix assembly  negative regulation of collagen fibril organization  negative regulation of macrophage migration  EMILIN complex  
NDEx NetworkEMILIN1
Atlas of Cancer Signalling NetworkEMILIN1
Wikipedia pathwaysEMILIN1
Orthology - Evolution
OrthoDB11117
Phylogenetic Trees/Animal Genes : TreeFamEMILIN1
HOVERGENQ9Y6C2
HOGENOMQ9Y6C2
Homologs : HomoloGeneEMILIN1
Homology/Alignments : Family Browser (UCSC)EMILIN1
Gene fusions - Rearrangements
Fusion : QuiverEMILIN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMILIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMILIN1
dbVarEMILIN1
ClinVarEMILIN1
1000_GenomesEMILIN1 
Exome Variant ServerEMILIN1
Varsome BrowserEMILIN1
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
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130660   
Orphanet
DisGeNETEMILIN1
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
PubMed44 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Aug 16 11:00:11 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.