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| TissGeneSummary for BFSP1 |
 Gene summary |
| Basic gene information | Gene symbol | BFSP1 |
| Gene name | beaded filament structural protein 1, filensin | |
| Synonyms | CP115|CP94|CTRCT33|LIFL-H | |
| Cytomap | UCSC genome browser: 20p12.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001161705.1, NM_001195.4,NM_001278606.1,NM_001278607.1,NM_001278608.1, | |
| Description | cytoskeletal protein, 115 KDfilensinlens fiber cell beaded-filament structural protein CP 115lens intermediate filament-like heavy | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603307 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125864 | ||
| HPRD : 04494 | ||
| Vega : OTTHUMG00000031940 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BFSP1 | |
| BioGPS: 631 | ||
| Pathway | NCI Pathway Interaction Database: BFSP1 | |
| KEGG: BFSP1 | ||
| REACTOME: BFSP1 | ||
| Pathway Commons: BFSP1 | ||
| Context | iHOP: BFSP1 | |
| ligand binding site mutation search in PubMed: BFSP1 | ||
| UCL Cancer Institute: BFSP1 | ||
| 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) | TestisEye | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCTUVM | |
| Reference showing the relevant tissue of BFSP1 | ||
| Description by TissGene annotations | Protective TissGene in OS Protective TissGene in RFS | |
| * 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 BFSP1 |
| 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. |
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| 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) |
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| - 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 |
| COAD | 0.394078695 | -1.554852074 | 1.948930769 | 5.61E-11 | 8.60E-10 |
| HNSC | 0.8397312 | -0.403478103 | 1.243209302 | 1.06E-06 | 8.00E-06 |
| LIHC | -0.934212382 | -2.200476382 | 1.266264 | 4.87E-11 | 6.64E-10 |
| KICH | -1.524286382 | 0.653177618 | -2.177464 | 4.61E-10 | 3.16E-09 |
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| TissGene-miRNA for BFSP1 |
| 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 |
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| TissGeneMut for BFSP1 |
| TissGeneSNV for BFSP1 |
| 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.S233F | BLCA | 1 |
| p.Q174K | COAD | 1 |
| p.T197I | UCEC | 1 |
| p.Q299* | BLCA | 1 |
| p.Y260C | HNSC | 1 |
| p.I636T | SKCM | 1 |
| p.Y479C | SKCM | 1 |
| p.R143W | LGG | 1 |
| p.I187M | BLCA | 1 |
| p.R229W | LUSC | 1 |
| p.P583T | LUAD | 1 |
| p.K303N | UCEC | 1 |
| p.V646L | ESCA | 1 |
| p.G508C | LUAD | 1 |
| p.E182D | OV | 1 |
| p.D656H | CESC | 1 |
| p.A389T | LGG | 1 |
| p.F441V | CHOL | 1 |
| p.K398T | UCEC | 1 |
| p.V471M | UCEC | 1 |
| p.A36S | KIRP | 1 |
| p.R308Q | STAD | 1 |
| p.E629K | SKCM | 1 |
| p.T89M | LGG | 1 |
| p.R275H | STAD | 1 |
| p.E504K | SKCM | 1 |
| p.G508D | MESO | 1 |
| p.A172S | LUSC | 1 |
| p.P589R | BRCA | 1 |
| p.L144I | LIHC | 1 |
| p.E258G | UCEC | 1 |
| p.S503Y | LGG | 1 |
| p.K447N | PRAD | 1 |
| p.K518Q | BLCA | 1 |
| p.P242S | SKCM | 1 |
| p.E332K | SKCM | 1 |
| p.C6W | COAD | 1 |
| p.E511* | BLCA | 1 |
| p.G220S | LGG | 1 |
| p.Q525H | BRCA | 1 |
| p.L141H | UCEC | 1 |
| p.A244E | LUSC | 1 |
| p.Q525H | LUAD | 1 |
| p.Y186C | HNSC | 1 |
| p.P367S | SKCM | 1 |
| p.E139X | READ | 1 |
| p.E457K | SKCM | 1 |
| p.P517R | HNSC | 1 |
| p.T214M | LGG | 1 |
| p.S627Y | LGG | 1 |
| p.G220S | SKCM | 1 |
| p.I537L | UCEC | 1 |
| p.E395Q | HNSC | 1 |
| p.E468G | LUAD | 1 |
| p.D596N | STAD | 1 |
| p.T214M | GBM | 1 |
| p.L353V | BLCA | 1 |
| p.E314K | UCEC | 1 |
| p.P371Q | SKCM | 1 |
| p.S408I | STAD | 1 |
| p.R358I | READ | 1 |
| p.A36V | KIRP | 1 |
| p.E415* | UCEC | 1 |
| p.G508S | HNSC | 1 |
| p.R229L | PRAD | 1 |
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| TissGeneCNV for BFSP1 |
| 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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| TissGeneFusions for BFSP1 |
| 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 |
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| TissGeneNet for BFSP1 |
| 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) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| COAD (tumor) | COAD (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| HNSC (tumor) | HNSC (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| KICH (tumor) | KICH (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| KIRC (tumor) | KIRC (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| KIRP (tumor) | KIRP (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| LIHC (tumor) | LIHC (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| LUAD (tumor) | LUAD (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| LUSC (tumor) | LUSC (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| PRAD (tumor) | PRAD (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| STAD (tumor) | STAD (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| THCA (tumor) | THCA (normal) |
| BFSP1, DCUN1D1, VIM (tumor) | BFSP1, DCUN1D1, VIM (normal) |
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| TissGeneProg for BFSP1 |
| 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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| TissGeneClin for BFSP1 |
| TissGeneDrug for BFSP1 |
| 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 BFSP1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0086543 | Cataract | 4 | BeFree |
| umls:C0007273 | Carotid Artery Diseases | 1 | GAD |
| umls:C0521707 | Bilateral cataracts (disorder) | 1 | BeFree |
| umls:C1832423 | Cataract, Age-Related Nuclear | 1 | BeFree |
| umls:C0392557 | Nuclear cataract | 0 | ORPHANET |
| umls:C1112705 | Nuclear non-senile cataract | 0 | ORPHANET |
| umls:C1969644 | Cataract, Cortical, Juvenile-Onset | 0 | CLINVAR,CTD_human |
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