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mutLBSgeneDB |
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| Gene summary for FBN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FBN1 |
| Gene name | fibrillin 1 | |
| Synonyms | ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 | |
| Cytomap | UCSC genome browser: 15q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000138.4, | |
| Description | fibrillin 15fibrillin-1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 134797 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166147 | ||
| HPRD : 00618 | ||
| Vega : OTTHUMG00000172218 | ||
| Protein | UniProt: P35555 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FBN1 | |
| BioGPS: 2200 | ||
| Pathway | NCI Pathway Interaction Database: FBN1 | |
| KEGG: FBN1 | ||
| REACTOME: FBN1 | ||
| Pathway Commons: FBN1 | ||
| Context | iHOP: FBN1 | |
| ligand binding site mutation search in PubMed: FBN1 | ||
| UCL Cancer Institute: FBN1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for FBN1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I808,E810 | D809N | BLCA | 1 | S824 | S824N | GBM | 1 | N928 | N928H | HNSC | 1 | D1280 | V1279A | HNSC | 1 | N928 | C926F | LUAD | 1 | T1132 | E1133D | LUSC | 1 | D572 | E571K | THCA | 1 | I808 | E806K | THCA | 1 | E1490 | E1490A | UCEC | 1 | N2183 | K2182N | UCEC | 1 | E1073 | R1075C | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for FBN1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | D1280 | V1279A | -1.6491035 | D572 | E571K | -1.5471326 | I808 | E806K | -1.4648676 | S824 | S824N | -1.2714604 | N2183 | K2182N | -1.2266389 | I808 | D809N | -0.96019555 | E810 | D809N | -0.96019555 | N928 | C926F | -0.73946887 | E1490 | E1490A | -0.70815776 | T1132 | E1133D | -0.594878 | E1073 | R1075C | -0.59189438 | N928 | N928H | -0.36224511 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for FBN1 from PDB |
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| Differential gene expression and gene-gene network for FBN1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for FBN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0024796 | Marfan Syndrome | 289 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0013581 | Ectopia Lentis | 34 | Biomarker, GeneticVariation |
| umls:C0162872 | Aortic Aneurysm, Thoracic | 10 | Biomarker, GeneticVariation |
| umls:C0265313 | Weill-Marchesani Syndrome | 10 | Biomarker |
| umls:C1851286 | Ectopia lentis isolated | 7 | Biomarker, GeneticVariation |
| umls:C0003706 | Arachnodactyly | 5 | Biomarker, GeneticVariation |
| umls:C0265287 | Acromicric dysplasia | 3 | Biomarker, GeneticVariation |
| umls:C1858556 | MASS syndrome | 3 | Biomarker, GeneticVariation |
| umls:C1321551 | Shprintzen Golberg craniosynostosis | 3 | Biomarker |
| umls:C0003496 | Aortic Rupture | 2 | Biomarker, GeneticVariation |
| umls:C1861456 | Stiff Skin Syndrome | 1 | Biomarker, GeneticVariation |
| umls:C1869115 | WEILL-MARCHESANI SYNDROME 2 | 1 | Biomarker, GeneticVariation |
| umls:C0020456 | Hyperglycemia | 1 | Biomarker |
| umls:C0020459 | Hyperinsulinism | 1 | Biomarker |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FBN1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FBN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1uzj | A | E1490 | CA | CALCIUM(2+) | 1emn | A | N2183 | CA | CALCIUM(2+) | 1emo | A | N2183 |
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| Conservation information for LBS of FBN1 |
| Multiple alignments for P35555 in multiple species |
| LBS | AA sequence | # species | Species |
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