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| TissGeneSummary for FBN1 |
 Gene summary |
| Basic gene information | 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: 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 TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | SkinStomach | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCMSTAD | |
| Reference showing the relevant tissue of FBN1 | ||
| Description by TissGene annotations | Cancer gene Have significant anti-correlated miRNA | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for FBN1 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
 |
| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
 |
| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| HNSC | 1.203274326 | 0.161441768 | 1.041832558 | 0.00731 | 0.018775685 |
| Top |
| TissGene-miRNA for FBN1 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
| LUSC | hsa-miR-9-5p | MIMAT0000441 | 0.0025 | -0.27 | 128 |
| UCS | hsa-miR-758-3p | MIMAT0003879 | 0.027 | -0.3 | 56 |
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| TissGeneMut for FBN1 |
| TissGeneSNV for FBN1 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.E2130K | SKCM | 2 |
| p.R344C | STAD | 2 |
| p.E2133* | UCEC | 2 |
| p.E2735K | SKCM | 2 |
| p.S1911F | SKCM | 2 |
| p.G1591R | SKCM | 1 |
| p.C683R | STAD | 1 |
| p.Q258* | BLCA | 1 |
| p.E1297K | SKCM | 1 |
| p.H2410Q | LUAD | 1 |
| p.G1226R | SKCM | 1 |
| p.D801V | ACC | 1 |
| p.D1432G | ACC | 1 |
| p.R1982K | SKCM | 1 |
| p.P2822S | READ | 1 |
| p.V2358I | UCEC | 1 |
| p.G1870E | BLCA | 1 |
| p.C160R | BLCA | 1 |
| p.L1979V | BLCA | 1 |
| p.V629I | STAD | 1 |
| p.C2646F | SKCM | 1 |
| p.R2239G | BLCA | 1 |
| p.G2691D | LIHC | 1 |
| p.Q2081R | STAD | 1 |
| p.S1215C | LUSC | 1 |
| p.P731L | SKCM | 1 |
| p.E2097K | READ | 1 |
| p.C299R | STAD | 1 |
| p.A211V | PRAD | 1 |
| p.I2403L | KIRC | 1 |
| p.P620S | SKCM | 1 |
| p.G2802D | PAAD | 1 |
| p.E2640K | COAD | 1 |
| p.G899E | LGG | 1 |
| p.A559V | LGG | 1 |
| p.P446S | COAD | 1 |
| p.R1915H | COAD | 1 |
| p.A31V | COAD | 1 |
| p.C763F | COAD | 1 |
| p.R2C | STAD | 1 |
| p.E2102K | SKCM | 1 |
| p.P1857A | SKCM | 1 |
| p.K2865Q | DLBC | 1 |
| p.G276E | THCA | 1 |
| p.E1490A | UCEC | 1 |
| p.C937* | ESCA | 1 |
| p.T1868K | LIHC | 1 |
| p.P1590S | LUAD | 1 |
| p.D1742G | LIHC | 1 |
| p.G1394V | BRCA | 1 |
| p.S293N | BLCA | 1 |
| p.L1922I | UVM | 1 |
| p.F1517L | BLCA | 1 |
| p.Q2656H | COAD | 1 |
| p.G1787D | COAD | 1 |
| p.C186Y | LIHC | 1 |
| p.R1539Q | PAAD | 1 |
| p.A2025S | DLBC | 1 |
| p.L1414I | READ | 1 |
| p.D1867N | UCEC | 1 |
| p.Y1387* | LUAD | 1 |
| p.G626R | STAD | 1 |
| p.C262S | SARC | 1 |
| p.R2057Q | UCEC | 1 |
| p.G1310D | READ | 1 |
| p.C1420F | READ | 1 |
| p.C1380Y | LUSC | 1 |
| p.T512P | LUAD | 1 |
| p.V984I | SKCM | 1 |
| p.S1215Y | ESCA | 1 |
| p.I298V | LUAD | 1 |
| p.E1894K | BLCA | 1 |
| p.E1477K | UCEC | 1 |
| p.T1529S | LIHC | 1 |
| p.P2513T | ESCA | 1 |
| p.V1128F | COAD | 1 |
| p.R2414X | COAD | 1 |
| p.V1172M | COAD | 1 |
| p.P402S | SKCM | 1 |
| p.E1006G | STAD | 1 |
| p.K2407E | LUAD | 1 |
| p.C1032Y | BRCA | 1 |
| p.G1441V | LUAD | 1 |
| p.H2770Y | SKCM | 1 |
| p.E440G | STAD | 1 |
| p.G157A | BLCA | 1 |
| p.R2414Q | UCEC | 1 |
| p.V1667F | LUAD | 1 |
| p.E2667K | PAAD | 1 |
| p.E503G | ESCA | 1 |
| p.S19F | HNSC | 1 |
| p.G1483R | STAD | 1 |
| p.R743C | UCEC | 1 |
| p.V2568L | LUSC | 1 |
| p.L1803F | STAD | 1 |
| p.C2251R | READ | 1 |
| p.C926F | LUAD | 1 |
| p.C286* | HNSC | 1 |
| p.I466K | STAD | 1 |
| p.C1549R | COAD | 1 |
| p.S1788I | LUSC | 1 |
| p.P2379L | SKCM | 1 |
| p.C313S | OV | 1 |
| p.G343R | KICH | 1 |
| p.G1426V | KIRC | 1 |
| p.E694K | SKCM | 1 |
| p.D51N | READ | 1 |
| p.V1279A | HNSC | 1 |
| p.P392L | STAD | 1 |
| p.E2742K | SKCM | 1 |
| p.K2182N | UCEC | 1 |
| p.Y2004C | CESC | 1 |
| p.S932L | BLCA | 1 |
| p.R743C | SKCM | 1 |
| p.M2632T | SKCM | 1 |
| p.R650C | SARC | 1 |
| p.G2505C | LUSC | 1 |
| p.D2146Y | READ | 1 |
| p.C119G | COAD | 1 |
| p.C1889F | LUAD | 1 |
| p.S1531F | SKCM | 1 |
| p.M624I | HNSC | 1 |
| p.R2306C | STAD | 1 |
| p.S910F | UCEC | 1 |
| p.P402L | SKCM | 1 |
| p.H2392Y | LUSC | 1 |
| p.H2426N | ESCA | 1 |
| p.S834Y | STAD | 1 |
| p.P2634L | SKCM | 1 |
| p.I466M | STAD | 1 |
| p.G2514* | ACC | 1 |
| p.R1539Q | READ | 1 |
| p.C1652X | LIHC | 1 |
| p.E2841* | UCEC | 1 |
| p.S2654P | LUAD | 1 |
| p.V203A | COAD | 1 |
| p.P2724S | SKCM | 1 |
| p.L2784V | HNSC | 1 |
| p.L2597F | LUAD | 1 |
| p.E571K | THCA | 1 |
| p.Y452C | LUSC | 1 |
| p.G1684R | SKCM | 1 |
| p.F1920L | STAD | 1 |
| p.E2846K | CESC | 1 |
| p.L925M | STAD | 1 |
| p.A2160S | LUAD | 1 |
| p.C2496Y | COAD | 1 |
| p.G1863V | THYM | 1 |
| p.C623Y | STAD | 1 |
| p.Y2004H | BRCA | 1 |
| p.R5C | STAD | 1 |
| p.G1143C | ESCA | 1 |
| p.E2572G | LIHC | 1 |
| p.E963K | COAD | 1 |
| p.H554Y | SKCM | 1 |
| p.R2243K | KIRC | 1 |
| p.S2071P | UVM | 1 |
| p.R1644* | SKCM | 1 |
| p.A559V | STAD | 1 |
| p.R62H | LGG | 1 |
| p.G2669S | ESCA | 1 |
| p.E1139K | SKCM | 1 |
| p.P103Q | KIRC | 1 |
| p.T2101M | COAD | 1 |
| p.R3* | STAD | 1 |
| p.G1370X | COAD | 1 |
| p.E682K | BRCA | 1 |
| p.R667T | HNSC | 1 |
| p.G2305W | HNSC | 1 |
| p.R1850C | SKCM | 1 |
| p.G77R | BLCA | 1 |
| p.S1451F | SKCM | 1 |
| p.S877C | STAD | 1 |
| p.Y798C | PRAD | 1 |
| p.E1005* | LUSC | 1 |
| p.E1477K | SKCM | 1 |
| p.G2691D | PAAD | 1 |
| p.R2306C | COAD | 1 |
| p.S2832R | STAD | 1 |
| p.P2121T | BLCA | 1 |
| p.T718M | LUAD | 1 |
| p.R516Q | UCEC | 1 |
| p.H2426N | BRCA | 1 |
| p.A167T | BLCA | 1 |
| p.D809N | BLCA | 1 |
| p.F1797L | READ | 1 |
| p.G819* | UCEC | 1 |
| p.S1293R | STAD | 1 |
| p.G737E | SKCM | 1 |
| p.W217L | LUAD | 1 |
| p.D51N | STAD | 1 |
| p.D532Y | ACC | 1 |
| p.G397E | THYM | 1 |
| p.D451V | HNSC | 1 |
| p.E2205K | LUSC | 1 |
| p.G1987S | SKCM | 1 |
| p.Q697P | LIHC | 1 |
| p.R232H | STAD | 1 |
| p.E1065K | SKCM | 1 |
| p.I671M | CESC | 1 |
| p.Q708E | BLCA | 1 |
| p.N928H | HNSC | 1 |
| p.P1225L | PRAD | 1 |
| p.R165Q | CESC | 1 |
| p.N261K | SARC | 1 |
| p.T2398P | UCEC | 1 |
| p.N347K | SKCM | 1 |
| p.H1877Y | LUAD | 1 |
| p.A10T | STAD | 1 |
| p.R1125Q | PAAD | 1 |
| p.H562Y | SKCM | 1 |
| p.F1346L | UCEC | 1 |
| p.K2840R | OV | 1 |
| p.P2233S | UCEC | 1 |
| p.A882E | SARC | 1 |
| p.R1530C | STAD | 1 |
| p.E1005* | KIRC | 1 |
| p.Y1395C | COAD | 1 |
| p.R2394X | LIHC | 1 |
| p.E994K | STAD | 1 |
| p.G795E | STAD | 1 |
| p.I466N | STAD | 1 |
| p.R1075C | UCEC | 1 |
| p.L2753I | UCEC | 1 |
| p.I84T | LUAD | 1 |
| p.P886L | COAD | 1 |
| p.D1884N | SKCM | 1 |
| p.T1342A | BRCA | 1 |
| p.R1054K | LIHC | 1 |
| p.Q2007X | LIHC | 1 |
| p.E1855* | UCEC | 1 |
| p.D2801N | LUAD | 1 |
| p.K2460I | COAD | 1 |
| p.R2776X | STAD | 1 |
| p.G919R | COAD | 1 |
| p.C816F | LUAD | 1 |
| p.E1160K | BLCA | 1 |
| p.M194L | LIHC | 1 |
| p.C1733S | UCEC | 1 |
| p.D1191N | READ | 1 |
| p.R344H | PAAD | 1 |
| p.Q907P | UCEC | 1 |
| p.T2516S | HNSC | 1 |
| p.F1797L | UCEC | 1 |
| p.G318S | SKCM | 1 |
| p.P2357L | SKCM | 1 |
| p.P56H | HNSC | 1 |
| p.N867I | LUAD | 1 |
| p.K1621Q | UCEC | 1 |
| p.D1191N | UCEC | 1 |
| p.G1394A | PAAD | 1 |
| p.K2387N | UCEC | 1 |
| p.R2776* | STAD | 1 |
| p.E1116Q | BLCA | 1 |
| p.Q2582E | KIRC | 1 |
| p.P1676T | LIHC | 1 |
| p.A1228T | ESCA | 1 |
| p.C129Y | HNSC | 1 |
| p.M393V | LIHC | 1 |
| p.L838S | LUSC | 1 |
| p.R954C | COAD | 1 |
| p.G2156C | BRCA | 1 |
| p.S1409F | SKCM | 1 |
| p.E1018* | UCEC | 1 |
| p.C1695F | LUAD | 1 |
| p.G2254E | SKCM | 1 |
| p.S2071L | UVM | 1 |
| p.T2544I | PRAD | 1 |
| p.Y2466H | STAD | 1 |
| p.F959L | LUSC | 1 |
| p.E1430D | COAD | 1 |
| p.R627C | STAD | 1 |
| p.M2244I | LUAD | 1 |
| p.G1684E | LUAD | 1 |
| p.G608E | BRCA | 1 |
| p.G418V | ESCA | 1 |
| p.E1811D | GBM | 1 |
| p.C2581F | ESCA | 1 |
| p.L279R | STAD | 1 |
| p.G1994W | READ | 1 |
| p.C313S | LUAD | 1 |
| p.G2439V | PRAD | 1 |
| p.P641L | SKCM | 1 |
| p.D732N | BLCA | 1 |
| p.A882S | LUSC | 1 |
| p.V770A | UCEC | 1 |
| p.S2361* | HNSC | 1 |
| p.R464C | ESCA | 1 |
| p.E1158X | LIHC | 1 |
| p.A882V | BRCA | 1 |
| p.S510L | SKCM | 1 |
| p.R332C | SKCM | 1 |
| p.A2324T | PAAD | 1 |
| p.R2726W | PAAD | 1 |
| p.G2199D | COAD | 1 |
| p.N2293K | BRCA | 1 |
| p.G2395R | ESCA | 1 |
| p.T2520M | PAAD | 1 |
| p.S2361L | BLCA | 1 |
| p.S824N | GBM | 1 |
| p.D532E | LIHC | 1 |
| p.G2120R | PRAD | 1 |
| p.R38K | CESC | 1 |
| p.A709T | STAD | 1 |
| p.T1496M | READ | 1 |
| p.E1366K | PRAD | 1 |
| p.I2616F | HNSC | 1 |
| p.N1826D | UCEC | 1 |
| p.S322Y | UCEC | 1 |
| p.S2148F | SKCM | 1 |
| p.G2173C | LUAD | 1 |
| p.R545C | BLCA | 1 |
| p.V2358G | SKCM | 1 |
| p.R2730W | STAD | 1 |
| p.G1042S | PRAD | 1 |
| p.C359X | COAD | 1 |
| p.D1155N | PAAD | 1 |
| p.V764I | LAML | 1 |
| p.R1523* | UCEC | 1 |
| p.C1201S | UCEC | 1 |
| p.G1313R | BLCA | 1 |
| p.R1727W | COAD | 1 |
| p.R2576H | STAD | 1 |
| p.C1044Y | STAD | 1 |
| p.M1309T | UCEC | 1 |
| p.M2347I | MESO | 1 |
| p.A1985V | STAD | 1 |
| p.C1307Y | COAD | 1 |
| p.R38G | BLCA | 1 |
| p.R464C | STAD | 1 |
| p.F1798C | SKCM | 1 |
| p.T212A | LUSC | 1 |
| p.T2224N | BLCA | 1 |
| p.R970K | BRCA | 1 |
| p.L1588F | COAD | 1 |
| p.P399Q | BLCA | 1 |
| p.G2514R | SKCM | 1 |
| p.E1139K | STAD | 1 |
| p.F2044V | PRAD | 1 |
| p.V1645M | BRCA | 1 |
| p.E2016G | ESCA | 1 |
| p.P1837S | SKCM | 1 |
| p.E806K | THCA | 1 |
| p.C937X | ESCA | 1 |
| p.S2072L | HNSC | 1 |
| p.T1950R | HNSC | 1 |
| p.G1500E | GBM | 1 |
| p.S1740N | COAD | 1 |
| p.G1143D | THYM | 1 |
| p.G70A | PRAD | 1 |
| p.E1073K | PAAD | 1 |
| p.S2711F | SKCM | 1 |
| p.P405T | KIRC | 1 |
| p.C2318Y | COAD | 1 |
| p.R1523Q | LGG | 1 |
| p.G1104R | LUAD | 1 |
| p.D730Y | HNSC | 1 |
| p.E689A | STAD | 1 |
| p.C2000F | PRAD | 1 |
| p.F2804L | READ | 1 |
| p.R122C | READ | 1 |
| p.M99I | LGG | 1 |
| p.H2871D | BLCA | 1 |
| p.P392L | LUAD | 1 |
| p.E2779K | SKCM | 1 |
| p.E1005X | KIRC | 1 |
| p.P2724L | ESCA | 1 |
| p.R650H | STAD | 1 |
| p.E1410D | UCEC | 1 |
| p.T2834A | COAD | 1 |
| p.L2784I | READ | 1 |
| p.A979S | LUSC | 1 |
| p.S1235* | UCEC | 1 |
| p.G2668C | COAD | 1 |
| p.I903N | UCEC | 1 |
| p.L1286P | STAD | 1 |
| p.S2813N | STAD | 1 |
| p.S722N | UCEC | 1 |
| p.G1143D | COAD | 1 |
| p.V1503I | LIHC | 1 |
| p.N1256K | BLCA | 1 |
| p.R861* | SKCM | 1 |
| p.R2394* | LIHC | 1 |
| p.I2458T | UCEC | 1 |
| p.G2802D | STAD | 1 |
| p.D1070N | KIRP | 1 |
| p.G626E | SKCM | 1 |
| p.M2864I | BLCA | 1 |
| p.S268F | CESC | 1 |
| p.N1324I | LUAD | 1 |
| p.T718M | STAD | 1 |
| p.Q1854H | STAD | 1 |
| p.P894S | SKCM | 1 |
| Top |
| TissGeneCNV for FBN1 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| Top |
| TissGeneFusions for FBN1 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | AW609921 | TOP2B-FBN1 | chr3:25650827 | chr15:48805839 | |
| Chimerdb3.0 | ChiTaRs | NA | BG007318 | MYOF-FBN1 | chr10:95106158 | chr15:48702953 | |
| Chimerdb3.0 | ChiTaRs | NA | AW609923 | SETD7-FBN1 | chr4:140450347 | chr15:48800841 | |
| Chimerdb3.0 | ChiTaRs | NA | BP321103 | FBN1-FBN1 | chr15:48787433 | chr15:48829834 | |
| Chimerdb3.0 | ChiTaRs | NA | AA330451 | FBN1-DPYSL3 | chr15:48707898 | chr5:146770966 | |
| Chimerdb3.0 | ChiTaRs | NA | AF187554 | GPI-FBN1 | chr19:34891143 | chr15:48712787 | |
| Chimerdb3.0 | ChiTaRs | NA | BF993118 | AACS-FBN1 | chr12:125591751 | chr15:48807741 | |
| Chimerdb3.0 | ChiTaRs | NA | CA435104 | FBN1-ARHGAP17 | chr15:48702417 | chr16:24946832 | |
| Chimerdb3.0 | FusionScan | SARC | TCGA-IE-A6BZ-01A | COX14-FBN1 | 5'UTR-CDS | chr12:50506084 | chr15:48762953 |
| Chimerdb3.0 | FusionScan | PRAD | TCGA-EJ-7783-01A | LEO1-FBN1 | In-Frame | chr15:52263884 | chr15:48830005 |
| Chimerdb3.0 | TopHat-Fusion | SARC | TCGA-IE-A4EJ-01A | FBN1-IL1RAPL2 | Out-of-Frame | chr15:48902924 | chrX:104559119 |
| Chimerdb3.0 | TopHat-Fusion | SARC | TCGA-IE-A4EJ-01A | FBN1-IL1RAPL2 | Out-of-Frame | chr15:48902924 | chrX:104572761 |
| Chimerdb3.0 | TopHat-Fusion | SARC | TCGA-IE-A4EJ-01A | FBN1-IL1RAPL2 | In-Frame | chr15:48902924 | chrX:104572768 |
| TCGAfusionPortal | PRADA | PRAD | TCGA-EJ-7783-01A | LEO1-FBN1 | In-frame | Chr15:52263885 | Chr15:48830005 |
| Top |
| TissGeneNet for FBN1 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, ATXN7, CXCL11, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, CALR, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, RHOB, CXCL9, LOX, MFAP5 (normal) |
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| COAD (tumor) | COAD (normal) |
| FBN1, FBN2, MFAP2, MYOC, FBLN5, HSPG2, ATXN7, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, ATXN7, CXCL11, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| FBN1, MFAP2, SERPINB2, MYOC, CALR, FBLN5, HSPG2, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, ATXN7, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (normal) |
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| KICH (tumor) | KICH (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, RHOB, CXCL9, CXCL10, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, CALR, FBLN5, HSPG2, ATXN7, CXCL11, VCAN, ELN, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, CALR, FBLN5, HSPG2, ATXN7, CXCL11, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, CXCL9, CXCL10, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, RHOB, CXCL9, CXCL10, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, ATXN7, CXCL11, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, MYOC, CALR, FBLN5, HSPG2, ATXN7, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, MYOC, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| FBN1, FBN2, MFAP2, SERPINB2, MYOC, CALR, FBLN5, HSPG2, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, MYOC, CALR, FBLN5, HSPG2, ATXN7, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| STAD (tumor) | STAD (normal) |
| FBN1, MFAP2, MYOC, CALR, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, PF4, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, MFAP5 (tumor) | FBN1, FBN2, MFAP2, MYOC, CALR, FBLN5, HSPG2, ATXN7, CXCL11, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (normal) |
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| THCA (tumor) | THCA (normal) |
| FBN1, FBN2, MFAP2, MYOC, CALR, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, CXCL10, LOX, MFAP5 (tumor) | FBN1, FBN2, MFAP2, SERPINB2, MYOC, FBLN5, HSPG2, ATXN7, CXCL11, SPRY2, VCAN, ELN, EFEMP2, LTBP1, DCN, FBLN2, CXCL13, RHOB, CXCL9, LOX, MFAP5 (normal) |
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| TissGeneProg for FBN1 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Top |
| TissGeneClin for FBN1 |
| TissGeneDrug for FBN1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for FBN1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0024796 | Marfan Syndrome | 310 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT |
| umls:C0009782 | Connective Tissue Diseases | 40 | BeFree,GAD |
| umls:C0013581 | Ectopia Lentis | 37 | BeFree,CTD_human,GAD,LHGDN,ORPHANET |
| umls:C0036421 | Systemic Scleroderma | 13 | BeFree,GAD,LHGDN |
| umls:C0162872 | Aortic Aneurysm, Thoracic | 11 | BeFree,CTD_human,GAD |
| umls:C0265313 | Weill-Marchesani syndrome | 10 | BeFree,CTD_human,ORPHANET |
| umls:C0220668 | Congenital contractural arachnodactyly | 9 | BeFree |
| umls:C0410787 | Hereditary Connective Tissue Disorder | 9 | BeFree |
| umls:C0003486 | Aortic Aneurysm | 8 | BeFree,GAD |
| umls:C0340643 | Dissection of aorta | 8 | BeFree |
| umls:C1851286 | Ectopia lentis isolated | 8 | BeFree,CLINVAR |
| umls:C0011644 | Scleroderma | 7 | BeFree,GAD |
| umls:C1956346 | Coronary Artery Disease | 7 | BeFree,GAD |
| umls:C0002940 | Aneurysm | 6 | BeFree |
| umls:C0026267 | Mitral Valve Prolapse Syndrome | 6 | BeFree,GAD,LHGDN |
| umls:C2697932 | Loeys-Dietz Syndrome | 6 | BeFree |
| umls:C0003493 | Aortic Diseases | 5 | BeFree |
| umls:C0003706 | Arachnodactyly | 5 | BeFree,CTD_human |
| umls:C0007222 | Cardiovascular Diseases | 5 | BeFree,LHGDN |
| umls:C0020538 | Hypertensive disease | 5 | BeFree,RGD |
| umls:C0265004 | Dilatation of aorta | 5 | BeFree |
| umls:C0729233 | Dissecting aneurysm of the thoracic aorta | 5 | BeFree |
| umls:C1812607 | Aortic aneurysm and dissection | 5 | BeFree |
| umls:C3489726 | Geleophysic dysplasia | 5 | BeFree,ORPHANET |
| umls:C0010068 | Coronary heart disease | 4 | BeFree |
| umls:C0017601 | Glaucoma | 4 | BeFree,LHGDN |
| umls:C0023787 | Lipodystrophy | 4 | BeFree |
| umls:C0221032 | Familial generalized lipodystrophy | 4 | BeFree |
| umls:C0265287 | Acromicric Dysplasia | 4 | BeFree,ORPHANET,UNIPROT |
| umls:C0340629 | Aortic aneurysm without mention of rupture NOS | 4 | BeFree |
| umls:C0010054 | Coronary Arteriosclerosis | 3 | BeFree |
| umls:C0019880 | Homocystinuria | 3 | BeFree,LHGDN |
| umls:C0023316 | Lens Subluxation | 3 | BeFree,LHGDN |
| umls:C0029463 | Osteosarcoma | 3 | BeFree |
| umls:C0031099 | Periodontitis | 3 | BeFree |
| umls:C0034067 | Pulmonary Emphysema | 3 | BeFree |
| umls:C0238669 | Aortic root dilatation | 3 | BeFree |
| umls:C0243050 | Cardiovascular Abnormalities | 3 | BeFree |
| umls:C0410702 | Adolescent idiopathic scoliosis | 3 | BeFree |
| umls:C0585442 | Osteosarcoma of bone | 3 | BeFree |
| umls:C1321551 | Shprintzen-Goldberg syndrome | 3 | BeFree,CTD_human,ORPHANET |
| umls:C1858556 | OVERLAP CONNECTIVE TISSUE DISEASE | 3 | BeFree,CLINVAR,CTD_human |
| umls:C3541518 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 3 | CTD_human,UNIPROT |
| umls:C0000768 | Congenital Abnormality | 2 | BeFree |
| umls:C0003496 | Aortic Rupture | 2 | CTD_human,GAD |
| umls:C0003499 | Supravalvular aortic stenosis | 2 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree,GAD |
| umls:C0007193 | Cardiomyopathy, Dilated | 2 | BeFree |
| umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | BeFree |
| umls:C0013336 | Dwarfism | 2 | BeFree |
| umls:C0017612 | Glaucoma, Open-Angle | 2 | BeFree,GAD |
| umls:C0017658 | Glomerulonephritis | 2 | RGD |
| umls:C0027092 | Myopia | 2 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 2 | BeFree |
| umls:C0033377 | Ptosis | 2 | BeFree |
| umls:C0036341 | Schizophrenia | 2 | BeFree |
| umls:C0042025 | Urinary Stress Incontinence | 2 | BeFree |
| umls:C0085413 | Polycystic Kidney, Autosomal Dominant | 2 | BeFree |
| umls:C0085580 | Essential Hypertension | 2 | BeFree |
| umls:C0152459 | Linear atrophy | 2 | BeFree |
| umls:C0206368 | Exfoliation Syndrome | 2 | BeFree,GAD |
| umls:C0221357 | Brachydactyly | 2 | BeFree |
| umls:C0241165 | Thick skin | 2 | BeFree |
| umls:C0265385 | Autosomal dominant hereditary disorder | 2 | BeFree |
| umls:C0268365 | Marfanoid hypermobility syndrome | 2 | BeFree |
| umls:C0345050 | Congenital aneurysm of ascending aorta | 2 | BeFree,CLINVAR |
| umls:C0345392 | Congenital kyphoscoliosis | 2 | BeFree |
| umls:C0406586 | Wiedemann-Rautenstrauch syndrome | 2 | BeFree |
| umls:C0575158 | Kyphoscoliosis deformity of spine | 2 | BeFree |
| umls:C0595936 | Aqueous Humor Disorders | 2 | BeFree |
| umls:C0600033 | Acquired Kyphoscoliosis | 2 | BeFree |
| umls:C0856747 | Aneurysm of ascending aorta | 2 | BeFree |
| umls:C1527249 | Colorectal Cancer | 2 | BeFree |
| umls:C2746069 | Familial ectopia lentis | 2 | BeFree |
| umls:C3178782 | Aortic Stiffness | 2 | GAD |
| umls:C0003507 | Aortic Valve Stenosis | 1 | GAD |
| umls:C0004138 | Ataxias, Hereditary | 1 | BeFree |
| umls:C0005586 | Bipolar Disorder | 1 | GAD |
| umls:C0005911 | Body Weight Changes | 1 | GAD |
| umls:C0009319 | Colitis | 1 | BeFree |
| umls:C0010278 | Craniosynostosis | 1 | BeFree |
| umls:C0010674 | Cystic Fibrosis | 1 | BeFree |
| umls:C0011206 | Delirium | 1 | BeFree |
| umls:C0011570 | Mental Depression | 1 | BeFree |
| umls:C0011581 | Depressive disorder | 1 | BeFree |
| umls:C0011633 | Dermatomyositis | 1 | BeFree |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
| umls:C0012359 | Pathological Dilatation | 1 | GAD |
| umls:C0013720 | Ehlers-Danlos Syndrome | 1 | BeFree |
| umls:C0014118 | Endocarditis | 1 | BeFree |
| umls:C0014175 | Endometriosis | 1 | CTD_human |
| umls:C0015310 | Exotropia | 1 | BeFree |
| umls:C0018801 | Heart failure | 1 | BeFree |
| umls:C0018802 | Congestive heart failure | 1 | BeFree |
| umls:C0019555 | Hip Dislocation, Congenital | 1 | BeFree,GAD |
| umls:C0020456 | Hyperglycemia | 1 | BeFree,CTD_human |
| umls:C0020459 | Hyperinsulinism | 1 | BeFree,CTD_human |
| umls:C0022661 | Kidney Failure, Chronic | 1 | GAD |
| umls:C0022821 | Kyphosis deformity of spine | 1 | BeFree |
| umls:C0023267 | Fibroid Tumor | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0026265 | Diseases of mitral valve | 1 | BeFree |
| umls:C0026266 | Mitral Valve Insufficiency | 1 | BeFree |
| umls:C0026848 | Myopathy | 1 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
| umls:C0030552 | Paresis | 1 | BeFree |
| umls:C0030567 | Parkinson Disease | 1 | GAD |
| umls:C0033975 | Psychotic Disorders | 1 | BeFree |
| umls:C0033999 | Pterygium | 1 | BeFree |
| umls:C0036439 | Scoliosis, unspecified | 1 | BeFree |
| umls:C0038013 | Ankylosing spondylitis | 1 | BeFree |
| umls:C0039685 | Tetralogy of Fallot | 1 | BeFree,GAD,LHGDN |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0042133 | Uterine Fibroids | 1 | BeFree |
| umls:C0042373 | Vascular Diseases | 1 | BeFree |
| umls:C0043194 | Wiskott-Aldrich Syndrome | 1 | BeFree |
| umls:C0086437 | Joint laxity | 1 | BeFree |
| umls:C0151786 | Muscle Weakness | 1 | BeFree |
| umls:C0206062 | Lung Diseases, Interstitial | 1 | BeFree |
| umls:C0206682 | Follicular thyroid carcinoma | 1 | BeFree |
| umls:C0232197 | Fibrillation | 1 | BeFree |
| umls:C0235833 | Congenital diaphragmatic hernia | 1 | BeFree |
| umls:C0265227 | Schinzel-Giedion syndrome | 1 | BeFree |
| umls:C0265673 | Congenital kyphosis | 1 | BeFree |
| umls:C0267725 | Paraesophageal hernia | 1 | BeFree |
| umls:C0268407 | Senile cardiac amyloidosis | 1 | BeFree |
| umls:C0338484 | Familial Hemiplegic Migraine | 1 | BeFree |
| umls:C0410528 | Skeletal dysplasia | 1 | BeFree |
| umls:C0549473 | Thyroid carcinoma | 1 | BeFree |
| umls:C0559260 | Congenital scoliosis | 1 | BeFree |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C0677932 | Progressive Neoplastic Disease | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0679408 | Lesion of stomach | 1 | BeFree |
| umls:C0700208 | Acquired scoliosis | 1 | BeFree |
| umls:C0746102 | Chronic lung disease | 1 | BeFree |
| umls:C0751587 | CADASIL Syndrome | 1 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
| umls:C1145670 | Respiratory Failure | 1 | BeFree |
| umls:C1299432 | Multi vessel coronary artery disease | 1 | BeFree |
| umls:C1301700 | Cardiovascular morbidity | 1 | BeFree |
| umls:C1800706 | Idiopathic Pulmonary Fibrosis | 1 | BeFree |
| umls:C1836635 | Loeys-Dietz Aortic Aneurysm Syndrome | 1 | BeFree |
| umls:C1861456 | Stiff Skin Syndrome | 1 | BeFree,CLINVAR,CTD_human,UNIPROT |
| umls:C1869115 | Weill-Marchesani Syndrome, Autosomal Dominant | 1 | BeFree,CLINVAR,MGD |
| umls:C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | 1 | BeFree |
| umls:C3280054 | GELEOPHYSIC DYSPLASIA 2 | 1 | CLINVAR,UNIPROT |
| umls:C3539781 | Progressive cGVHD | 1 | BeFree |
| umls:C1851718 | Emphysema, Hereditary Pulmonary | 0 | MGD |
| umls:C1866983 | SCLERODERMA, FAMILIAL PROGRESSIVE | 0 | MGD |
| umls:C2931588 | GEMSS syndrome | 0 | ORPHANET |
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