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FBN1 (fibrillin 1)

Identity

Alias_namesFBN
MFS1
WMS
fibrillin 1 (Marfan syndrome)
Alias_symbol (synonym)MASS
OCTD
SGS
Other aliasACMICD
ECTOL1
GPHYSD2
SSKS
WMS2
HGNC (Hugo) FBN1
LocusID (NCBI) 2200
Atlas_Id 43778
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 48700503 and ends at 48937985 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AACS (12q24.31) / FBN1 (15q21.1)APOA2 (1q23.3) / FBN1 (15q21.1)FBN1 (15q21.1) / ARHGAP17 (16p12.1)
FBN1 (15q21.1) / DPYSL3 (5q32)FBN1 (15q21.1) / FBN1 (15q21.1)GPI (19q13.11) / FBN1 (15q21.1)
LEO1 (15q21.2) / FBN1 (15q21.1)MYOF (10q23.33) / FBN1 (15q21.1)SETD7 (4q31.1) / FBN1 (15q21.1)
TOP2B (3p24.2) / FBN1 (15q21.1)LEO1 15q21.2 / FBN1 15q21.1

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(p22;p22) LTBP1/BIRC6::del(2)(p22p22) LTBP1/BIRC6


External links

Nomenclature
HGNC (Hugo)FBN1   3603
LRG (Locus Reference Genomic)LRG_778
Cards
Entrez_Gene (NCBI)FBN1  2200  fibrillin 1
AliasesACMICD; ECTOL1; FBN; GPHYSD2; 
MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
GeneCards (Weizmann)FBN1
Ensembl hg19 (Hinxton)ENSG00000166147 [Gene_View]  chr15:48700503-48937985 [Contig_View]  FBN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166147 [Gene_View]  chr15:48700503-48937985 [Contig_View]  FBN1 [Vega]
ICGC DataPortalENSG00000166147
TCGA cBioPortalFBN1
AceView (NCBI)FBN1
Genatlas (Paris)FBN1
WikiGenes2200
SOURCE (Princeton)FBN1
Genetics Home Reference (NIH)FBN1
Genomic and cartography
GoldenPath hg19 (UCSC)FBN1  -     chr15:48700503-48937985 -  15q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FBN1  -     15q21.1   [Description]    (hg38-Dec_2013)
EnsemblFBN1 - 15q21.1 [CytoView hg19]  FBN1 - 15q21.1 [CytoView hg38]
Mapping of homologs : NCBIFBN1 [Mapview hg19]  FBN1 [Mapview hg38]
OMIM102370   129600   134797   154700   184900   604308   608328   614185   
Gene and transcription
Genbank (Entrez)AB208840 AK304737 AK309616 BC094721 BC146854
RefSeq transcript (Entrez)NM_000138
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_008805 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)FBN1
Cluster EST : UnigeneHs.591133 [ NCBI ]
CGAP (NCI)Hs.591133
Alternative Splicing GalleryENSG00000166147
Gene ExpressionFBN1 [ NCBI-GEO ]   FBN1 [ EBI - ARRAY_EXPRESS ]   FBN1 [ SEEK ]   FBN1 [ MEM ]
Gene Expression Viewer (FireBrowse)FBN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2200
GTEX Portal (Tissue expression)FBN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35555   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35555  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35555
Splice isoforms : SwissVarP35555
PhosPhoSitePlusP35555
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    TB (PS51364)   
Domains : Interpro (EBI)cEGF    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)cEGF (PF12662)    EGF_CA (PF07645)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)FBN1
DMDM Disease mutations2200
Blocks (Seattle)FBN1
PDB (SRS)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
PDB (PDBSum)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
PDB (IMB)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
PDB (RSDB)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
Structural Biology KnowledgeBase1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
SCOP (Structural Classification of Proteins)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
CATH (Classification of proteins structures)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86   
SuperfamilyP35555
Human Protein AtlasENSG00000166147
Peptide AtlasP35555
HPRD00618
IPIIPI00328113   IPI01009156   IPI00556217   IPI01009467   
Protein Interaction databases
DIP (DOE-UCLA)P35555
IntAct (EBI)P35555
FunCoupENSG00000166147
BioGRIDFBN1
STRING (EMBL)FBN1
ZODIACFBN1
Ontologies - Pathways
QuickGOP35555
Ontology : AmiGOskeletal system development  microfibril  metanephros development  integrin binding  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  basement membrane  extracellular space  heart development  extracellular matrix disassembly  extracellular matrix constituent conferring elasticity  extracellular matrix organization  extracellular matrix  extracellular matrix  protein complex binding  sequestering of BMP in extracellular matrix  sequestering of TGFbeta in extracellular matrix  camera-type eye development  embryonic eye morphogenesis  post-embryonic eye morphogenesis  extracellular exosome  cellular response to transforming growth factor beta stimulus  regulation of cellular response to growth factor stimulus  cellular response to insulin-like growth factor stimulus  
Ontology : EGO-EBIskeletal system development  microfibril  metanephros development  integrin binding  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  basement membrane  extracellular space  heart development  extracellular matrix disassembly  extracellular matrix constituent conferring elasticity  extracellular matrix organization  extracellular matrix  extracellular matrix  protein complex binding  sequestering of BMP in extracellular matrix  sequestering of TGFbeta in extracellular matrix  camera-type eye development  embryonic eye morphogenesis  post-embryonic eye morphogenesis  extracellular exosome  cellular response to transforming growth factor beta stimulus  regulation of cellular response to growth factor stimulus  cellular response to insulin-like growth factor stimulus  
NDEx NetworkFBN1
Atlas of Cancer Signalling NetworkFBN1
Wikipedia pathwaysFBN1
Orthology - Evolution
OrthoDB2200
GeneTree (enSembl)ENSG00000166147
Phylogenetic Trees/Animal Genes : TreeFamFBN1
HOVERGENP35555
HOGENOMP35555
Homologs : HomoloGeneFBN1
Homology/Alignments : Family Browser (UCSC)FBN1
Gene fusions - Rearrangements
Fusion : MitelmanLEO1/FBN1 [15q21.2/15q21.1]  [t(15;15)(q21;q21)]  
Fusion: TCGALEO1 15q21.2 FBN1 15q21.1 PRAD
Fusion Cancer (Beijing)APOA2 [1q23.3]  -  FBN1 [15q21.1]  [FUSC002053]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFBN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBN1
dbVarFBN1
ClinVarFBN1
1000_GenomesFBN1 
Exome Variant ServerFBN1
ExAC (Exome Aggregation Consortium)FBN1 (select the gene name)
Genetic variants : HAPMAP2200
Genomic Variants (DGV)FBN1 [DGVbeta]
DECIPHER (Syndromes)15:48700503-48937985  ENSG00000166147
CONAN: Copy Number AnalysisFBN1 
Mutations
ICGC Data PortalFBN1 
TCGA Data PortalFBN1 
Broad Tumor PortalFBN1
OASIS PortalFBN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFBN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFBN1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch FBN1
DgiDB (Drug Gene Interaction Database)FBN1
DoCM (Curated mutations)FBN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FBN1 (select a term)
intoGenFBN1
Cancer3DFBN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102370    129600    134797    154700    184900    604308    608328    614185   
Orphanet486    1289    1998    2275    2401    2570    3033    20628    20630    21117    12138   
MedgenFBN1
Genetic Testing Registry FBN1
NextProtP35555 [Medical]
TSGene2200
GENETestsFBN1
Huge Navigator FBN1 [HugePedia]
snp3D : Map Gene to Disease2200
BioCentury BCIQFBN1
ClinGenFBN1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2200
Chemical/Pharm GKB GenePA28016
Clinical trialFBN1
Miscellaneous
canSAR (ICR)FBN1 (select the gene name)
Probes
Litterature
PubMed319 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFBN1
EVEXFBN1
GoPubMedFBN1
iHOPFBN1
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 : Thu Mar 30 15:00:54 CEST 2017

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