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FBN1 (fibrillin 1)

Identity

Alias (NCBI)ACMICD
ECTOL1
FBN
GPHYSD2
MASS
MFLS
MFS1
OCTD
SGS
SSKS
WMS
WMS2
HGNC (Hugo) FBN1
HGNC Alias symbMASS
OCTD
SGS
HGNC Alias nameMarfan syndrome
 asprosin
HGNC Previous nameFBN
 MFS1
 WMS
HGNC Previous namefibrillin 1 (Marfan syndrome)
LocusID (NCBI) 2200
Atlas_Id 43778
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 48408313 and ends at 48645709 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)
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

External links

 

Nomenclature
HGNC (Hugo)FBN1   3603
LRG (Locus Reference Genomic)LRG_778
Cards
Entrez_Gene (NCBI)FBN1    fibrillin 1
AliasesACMICD; ECTOL1; FBN; GPHYSD2; 
MASS; MFLS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
GeneCards (Weizmann)FBN1
Ensembl hg19 (Hinxton)ENSG00000166147 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166147 [Gene_View]  ENSG00000166147 [Sequence]  chr15:48408313-48645709 [Contig_View]  FBN1 [Vega]
ICGC DataPortalENSG00000166147
TCGA cBioPortalFBN1
AceView (NCBI)FBN1
Genatlas (Paris)FBN1
SOURCE (Princeton)FBN1
Genetics Home Reference (NIH)FBN1
Genomic and cartography
GoldenPath hg38 (UCSC)FBN1  -     chr15:48408313-48645709 -  15q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FBN1  -     15q21.1   [Description]    (hg19-Feb_2009)
GoldenPathFBN1 - 15q21.1 [CytoView hg19]  FBN1 - 15q21.1 [CytoView hg38]
ImmunoBaseENSG00000166147
Genome Data Viewer NCBIFBN1 [Mapview hg19]  
OMIM102370   129600   134797   154700   184900   604308   608328   614185   616914   
Gene and transcription
Genbank (Entrez)AB208840 AK304737 AK309616 BC094721 BC146854
RefSeq transcript (Entrez)NM_000138
Consensus coding sequences : CCDS (NCBI)FBN1
Gene ExpressionFBN1 [ NCBI-GEO ]   FBN1 [ EBI - ARRAY_EXPRESS ]   FBN1 [ SEEK ]   FBN1 [ MEM ]
Gene Expression Viewer (FireBrowse)FBN1 [ Firebrowse - Broad ]
GenevisibleExpression of FBN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2200
GTEX Portal (Tissue expression)FBN1
Human Protein AtlasENSG00000166147-FBN1 [pathology]   [cell]   [tissue]
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
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_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FBN    Fibrillin_U_N    Growth_fac_rcpt_cys_sf    TB_dom    TB_dom_sf   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    Fibrillin_U_N (PF18193)    TB (PF00683)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam18193    pfam00683   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)FBN1
PDB (RSDB)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
PDB Europe1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
PDB (PDBSum)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
PDB (IMB)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
Structural Biology KnowledgeBase1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
SCOP (Structural Classification of Proteins)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
CATH (Classification of proteins structures)1APJ    1EMN    1EMO    1LMJ    1UZJ    1UZK    1UZP    1UZQ    2M74    2W86    5MS9   
SuperfamilyP35555
AlphaFold pdb e-kbP35555   
Human Protein Atlas [tissue]ENSG00000166147-FBN1 [tissue]
HPRD00618
Protein Interaction databases
DIP (DOE-UCLA)P35555
IntAct (EBI)P35555
BioGRIDFBN1
STRING (EMBL)FBN1
ZODIACFBN1
Ontologies - Pathways
QuickGOP35555
Ontology : AmiGOskeletal system development  microfibril  metanephros development  integrin binding  hormone activity  extracellular matrix structural constituent  extracellular matrix structural constituent  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  extracellular region  extracellular region  basement membrane  extracellular space  extracellular space  endoplasmic reticulum lumen  signal transduction  heart development  heparin binding  anatomical structure morphogenesis  extracellular matrix constituent conferring elasticity  extracellular matrix organization  extracellular matrix  extracellular matrix  cell adhesion mediated by integrin  sequestering of BMP in extracellular matrix  sequestering of TGFbeta in extracellular matrix  identical protein binding  camera-type eye development  post-translational protein modification  cellular protein metabolic process  protein-containing complex binding  negative regulation of osteoclast differentiation  embryonic eye morphogenesis  post-embryonic eye morphogenesis  collagen-containing extracellular matrix  collagen-containing extracellular matrix  cellular response to transforming growth factor beta stimulus  cellular response to insulin-like growth factor stimulus  negative regulation of osteoclast development  
Ontology : EGO-EBIskeletal system development  microfibril  metanephros development  integrin binding  hormone activity  extracellular matrix structural constituent  extracellular matrix structural constituent  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  extracellular region  extracellular region  basement membrane  extracellular space  extracellular space  endoplasmic reticulum lumen  signal transduction  heart development  heparin binding  anatomical structure morphogenesis  extracellular matrix constituent conferring elasticity  extracellular matrix organization  extracellular matrix  extracellular matrix  cell adhesion mediated by integrin  sequestering of BMP in extracellular matrix  sequestering of TGFbeta in extracellular matrix  identical protein binding  camera-type eye development  post-translational protein modification  cellular protein metabolic process  protein-containing complex binding  negative regulation of osteoclast differentiation  embryonic eye morphogenesis  post-embryonic eye morphogenesis  collagen-containing extracellular matrix  collagen-containing extracellular matrix  cellular response to transforming growth factor beta stimulus  cellular response to insulin-like growth factor stimulus  negative regulation of osteoclast development  
NDEx NetworkFBN1
Atlas of Cancer Signalling NetworkFBN1
Wikipedia pathwaysFBN1
Orthology - Evolution
OrthoDB2200
GeneTree (enSembl)ENSG00000166147
Phylogenetic Trees/Animal Genes : TreeFamFBN1
Homologs : HomoloGeneFBN1
Homology/Alignments : Family Browser (UCSC)FBN1
Gene fusions - Rearrangements
Fusion : MitelmanLEO1/FBN1 [15q21.2/15q21.1]  
Fusion Cancer (Beijing)APOA2 [1q23.3]  -  FBN1 [15q21.1]  [FUSC002053]
Fusion : QuiverFBN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFBN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBN1
dbVarFBN1
ClinVarFBN1
MonarchFBN1
1000_GenomesFBN1 
Exome Variant ServerFBN1
GNOMAD BrowserENSG00000166147
Varsome BrowserFBN1
ACMGFBN1 variants
VarityP35555
Genomic Variants (DGV)FBN1 [DGVbeta]
DECIPHERFBN1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DFBN1
Mutations and Diseases : HGMDFBN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFBN1
DgiDB (Drug Gene Interaction Database)FBN1
DoCM (Curated mutations)FBN1
CIViC (Clinical Interpretations of Variants in Cancer)FBN1
Cancer3DFBN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102370    129600    134797    154700    184900    604308    608328    614185    616914   
Orphanet486    1289    1998    2275    2401    2570    3033    20628    20630    21117    12138   
DisGeNETFBN1
MedgenFBN1
Genetic Testing Registry FBN1
NextProtP35555 [Medical]
GENETestsFBN1
Target ValidationFBN1
Huge Navigator FBN1 [HugePedia]
ClinGenFBN1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeFBN1
Protein Interactions : CTDFBN1
Pharm GKB GenePA28016
PharosP35555
Clinical trialFBN1
Miscellaneous
canSAR (ICR)FBN1
HarmonizomeFBN1
DataMed IndexFBN1
Probes
Litterature
PubMed436 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFBN1
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 : Mon Oct 4 15:09:03 CEST 2021
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