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FBN3 (fibrillin 3)

Identity

Other alias-
HGNC (Hugo) FBN3
LocusID (NCBI) 84467
Atlas_Id 54312
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 8130287 and ends at 8212385 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FBN3 (19p13.2) / FBN3 (19p13.2)POLR2A (17p13.1) / FBN3 (19p13.2)SLC35G6 (17p13.1) / FBN3 (19p13.2)
SLC35G6 17p13.1 / FBN3 19p13.2

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)FBN3   18794
Cards
Entrez_Gene (NCBI)FBN3  84467  fibrillin 3
Aliases
GeneCards (Weizmann)FBN3
Ensembl hg19 (Hinxton)ENSG00000142449 [Gene_View]  chr19:8130287-8212385 [Contig_View]  FBN3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142449 [Gene_View]  chr19:8130287-8212385 [Contig_View]  FBN3 [Vega]
ICGC DataPortalENSG00000142449
TCGA cBioPortalFBN3
AceView (NCBI)FBN3
Genatlas (Paris)FBN3
WikiGenes84467
SOURCE (Princeton)FBN3
Genetics Home Reference (NIH)FBN3
Genomic and cartography
GoldenPath hg19 (UCSC)FBN3  -     chr19:8130287-8212385 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FBN3  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblFBN3 - 19p13.2 [CytoView hg19]  FBN3 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIFBN3 [Mapview hg19]  FBN3 [Mapview hg38]
OMIM608529   
Gene and transcription
Genbank (Entrez)AB053450 AI341180 AK000036 AK074501 AK095563
RefSeq transcript (Entrez)NM_001321431 NM_032447
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929413
Consensus coding sequences : CCDS (NCBI)FBN3
Cluster EST : UnigeneHs.370362 [ NCBI ]
CGAP (NCI)Hs.370362
Alternative Splicing GalleryENSG00000142449
Gene ExpressionFBN3 [ NCBI-GEO ]   FBN3 [ EBI - ARRAY_EXPRESS ]   FBN3 [ SEEK ]   FBN3 [ MEM ]
Gene Expression Viewer (FireBrowse)FBN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84467
GTEX Portal (Tissue expression)FBN3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ75N90   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ75N90  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ75N90
Splice isoforms : SwissVarQ75N90
PhosPhoSitePlusQ75N90
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FBN    Growth_fac_rcpt_    TB_dom   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)FBN3
DMDM Disease mutations84467
Blocks (Seattle)FBN3
SuperfamilyQ75N90
Human Protein AtlasENSG00000142449
Peptide AtlasQ75N90
HPRD10538
IPIIPI00438355   IPI00442275   IPI00746393   
Protein Interaction databases
DIP (DOE-UCLA)Q75N90
IntAct (EBI)Q75N90
FunCoupENSG00000142449
BioGRIDFBN3
STRING (EMBL)FBN3
ZODIACFBN3
Ontologies - Pathways
QuickGOQ75N90
Ontology : AmiGOextracellular matrix structural constituent  calcium ion binding  proteinaceous extracellular matrix  anatomical structure morphogenesis  extracellular matrix  regulation of cellular response to growth factor stimulus  
Ontology : EGO-EBIextracellular matrix structural constituent  calcium ion binding  proteinaceous extracellular matrix  anatomical structure morphogenesis  extracellular matrix  regulation of cellular response to growth factor stimulus  
NDEx NetworkFBN3
Atlas of Cancer Signalling NetworkFBN3
Wikipedia pathwaysFBN3
Orthology - Evolution
OrthoDB84467
GeneTree (enSembl)ENSG00000142449
Phylogenetic Trees/Animal Genes : TreeFamFBN3
HOVERGENQ75N90
HOGENOMQ75N90
Homologs : HomoloGeneFBN3
Homology/Alignments : Family Browser (UCSC)FBN3
Gene fusions - Rearrangements
Fusion : MitelmanPOLR2A/FBN3 [17p13.1/19p13.2]  [t(17;19)(p13;p13)]  
Fusion : MitelmanSLC35G6/FBN3 [17p13.1/19p13.2]  [t(17;19)(p13;p13)]  
Fusion: TCGASLC35G6 17p13.1 FBN3 19p13.2 LAML
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFBN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBN3
dbVarFBN3
ClinVarFBN3
1000_GenomesFBN3 
Exome Variant ServerFBN3
ExAC (Exome Aggregation Consortium)FBN3 (select the gene name)
Genetic variants : HAPMAP84467
Genomic Variants (DGV)FBN3 [DGVbeta]
DECIPHER (Syndromes)19:8130287-8212385  ENSG00000142449
CONAN: Copy Number AnalysisFBN3 
Mutations
ICGC Data PortalFBN3 
TCGA Data PortalFBN3 
Broad Tumor PortalFBN3
OASIS PortalFBN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFBN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFBN3
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 FBN3
DgiDB (Drug Gene Interaction Database)FBN3
DoCM (Curated mutations)FBN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FBN3 (select a term)
intoGenFBN3
Cancer3DFBN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608529   
Orphanet
MedgenFBN3
Genetic Testing Registry FBN3
NextProtQ75N90 [Medical]
TSGene84467
GENETestsFBN3
Huge Navigator FBN3 [HugePedia]
snp3D : Map Gene to Disease84467
BioCentury BCIQFBN3
ClinGenFBN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84467
Chemical/Pharm GKB GenePA38681
Clinical trialFBN3
Miscellaneous
canSAR (ICR)FBN3 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFBN3
EVEXFBN3
GoPubMedFBN3
iHOPFBN3
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 : Tue Mar 14 13:05:42 CET 2017

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