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| TissGeneSummary for CFB |
 Gene summary |
| Basic gene information | Gene symbol | CFB |
| Gene name | complement factor B | |
| Synonyms | AHUS4|ARMD14|BF|BFD|CFAB|CFBD|FB|FBI12|GBG|H2-Bf|PBF2 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001710.5, | |
| Description | B-factor, properdinC3 proacceleratorC3 proactivatorC3/C5 convertaseglycine-rich beta glycoproteinglycine-rich beta-glycoproteinproperdin factor B | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 138470 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000243649 | ||
| HPRD : 00718 | ||
| Vega : OTTHUMG00000031198 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CFB | |
| BioGPS: 629 | ||
| Pathway | NCI Pathway Interaction Database: CFB | |
| KEGG: CFB | ||
| REACTOME: CFB | ||
| Pathway Commons: CFB | ||
| Context | iHOP: CFB | |
| ligand binding site mutation search in PubMed: CFB | ||
| UCL Cancer Institute: CFB | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of CFB | ||
| Description by TissGene annotations | Fused withTSGene | |
| * 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 CFB |
| 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 |
| LUAD | 2.477005633 | 1.067810805 | 1.409194828 | 1.64E-08 | 7.12E-08 |
| KICH | -3.307362023 | 1.161581977 | -4.468944 | 5.64E-11 | 4.61E-10 |
| KIRC | 2.835510422 | 1.409240977 | 1.426269444 | 3.87E-13 | 1.71E-12 |
| BRCA | 3.360896679 | 1.450639662 | 1.910257018 | 2.04E-14 | 1.02E-13 |
| ESCA | 2.660629614 | 0.507275068 | 2.153354545 | 0.00275 | 0.027303571 |
| STAD | 2.655287852 | 1.339544102 | 1.31574375 | 0.00736 | 0.026740937 |
| THCA | 1.20132191 | 0.063560893 | 1.137761017 | 0.00387 | 0.008175744 |
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| TissGene-miRNA for CFB |
| 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 CFB |
| TissGeneSNV for CFB |
| 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.E179K | SKCM | 2 |
| p.P171S | SKCM | 2 |
| p.R127W | LGG | 1 |
| p.G311E | SKCM | 1 |
| p.N649Y | LIHC | 1 |
| p.T122M | STAD | 1 |
| p.R138Q | SKCM | 1 |
| p.A82V | BLCA | 1 |
| p.T204M | STAD | 1 |
| p.M1I | UCEC | 1 |
| p.R357C | THCA | 1 |
| p.G479E | SKCM | 1 |
| p.D119N | SKCM | 1 |
| p.S630A | STAD | 1 |
| p.A301T | STAD | 1 |
| p.S329C | LUAD | 1 |
| p.E615K | SKCM | 1 |
| p.H190P | LIHC | 1 |
| p.G252D | STAD | 1 |
| p.E742K | SKCM | 1 |
| p.E620K | SKCM | 1 |
| p.P565S | SKCM | 1 |
| p.P70R | LUSC | 1 |
| p.S128A | STAD | 1 |
| p.R249C | GBM | 1 |
| p.P673S | SKCM | 1 |
| p.V262I | PRAD | 1 |
| p.L286V | CESC | 1 |
| p.W28L | LIHC | 1 |
| p.R202W | GBM | 1 |
| p.I628V | LIHC | 1 |
| p.R143C | SKCM | 1 |
| p.P15T | PAAD | 1 |
| p.V764I | PRAD | 1 |
| p.E140K | LUAD | 1 |
| p.E657K | SKCM | 1 |
| p.S388F | SKCM | 1 |
| p.G931E | HNSC | 1 |
| p.P59L | SKCM | 1 |
| p.D949G | LIHC | 1 |
| p.V669I | LUSC | 1 |
| p.D991N | PRAD | 1 |
| p.S45R | SKCM | 1 |
| p.S124F | SKCM | 1 |
| p.S780T | HNSC | 1 |
| p.G557S | SKCM | 1 |
| p.R415H | LUAD | 1 |
| p.D138N | SKCM | 1 |
| p.R1181G | BLCA | 1 |
| p.S490F | KIRC | 1 |
| p.R642W | PAAD | 1 |
| p.R605X | SKCM | 1 |
| p.V23G | SKCM | 1 |
| p.V669I | STAD | 1 |
| p.P430L | SKCM | 1 |
| p.V1171I | STAD | 1 |
| p.G147E | SKCM | 1 |
| p.V525G | SKCM | 1 |
| p.A1016T | SKCM | 1 |
| p.R1107Q | SKCM | 1 |
| p.R324K | SKCM | 1 |
| p.L9H | BRCA | 1 |
| p.R917H | LUAD | 1 |
| p.A514T | SKCM | 1 |
| p.R77Q | ACC | 1 |
| p.G135D | SKCM | 1 |
| p.K1131N | CESC | 1 |
| p.R124W | PRAD | 1 |
| p.S95L | LUAD | 1 |
| p.H849Y | BLCA | 1 |
| p.V1018A | LGG | 1 |
| p.R415H | PAAD | 1 |
| p.R100Q | LGG | 1 |
| p.E207K | SKCM | 1 |
| p.A319V | SKCM | 1 |
| p.P621S | SKCM | 1 |
| p.E750Q | BLCA | 1 |
| p.S125L | BLCA | 1 |
| p.K643T | LIHC | 1 |
| p.L85P | STAD | 1 |
| p.R104C | SKCM | 1 |
| p.E1146K | SKCM | 1 |
| p.I245V | HNSC | 1 |
| p.P119S | SKCM | 1 |
| p.E1159K | SKCM | 1 |
| p.G167V | LUAD | 1 |
| p.R1144W | PAAD | 1 |
| p.G1152E | SKCM | 1 |
| p.G112R | STAD | 1 |
| p.L587M | PRAD | 1 |
| p.E492K | SKCM | 1 |
| p.E517K | SKCM | 1 |
| p.G135S | SKCM | 1 |
| p.G1009E | SKCM | 1 |
| p.K91N | READ | 1 |
| p.Y148S | THCA | 1 |
| p.P171L | SKCM | 1 |
| p.W997* | PRAD | 1 |
| p.A188V | PAAD | 1 |
| p.R652Q | LUAD | 1 |
| p.P461S | SKCM | 1 |
| p.S831C | LUAD | 1 |
| p.R243H | GBM | 1 |
| p.A57T | COAD | 1 |
| p.R503C | STAD | 1 |
| p.F109L | UCEC | 1 |
| p.S217F | SKCM | 1 |
| p.N19D | LUSC | 1 |
| p.P70L | SKCM | 1 |
| p.C447Y | LIHC | 1 |
| p.P521H | ESCA | 1 |
| p.G636D | SKCM | 1 |
| p.D1049N | SKCM | 1 |
| p.K274E | LUSC | 1 |
| p.E213K | SKCM | 1 |
| p.E644K | SKCM | 1 |
| p.D518N | SKCM | 1 |
| p.P572L | SKCM | 1 |
| p.W41L | LUSC | 1 |
| p.S782N | MESO | 1 |
| p.W135R | LUAD | 1 |
| p.K419N | HNSC | 1 |
| p.L195V | HNSC | 1 |
| p.T716M | MESO | 1 |
| p.R1107* | SKCM | 1 |
| p.F967L | ACC | 1 |
| p.D547N | SKCM | 1 |
| p.H107L | SKCM | 1 |
| p.G663E | PAAD | 1 |
| p.M315L | LUAD | 1 |
| p.S719F | SKCM | 1 |
| p.E179* | BLCA | 1 |
| p.G55S | SKCM | 1 |
| p.D145N | SKCM | 1 |
| p.H178Y | SKCM | 1 |
| p.F12L | SKCM | 1 |
| p.E1122K | SKCM | 1 |
| p.G161E | PAAD | 1 |
| p.D891N | BLCA | 1 |
| p.E139K | SKCM | 1 |
| p.D949H | BLCA | 1 |
| p.S226C | SKCM | 1 |
| p.K648N | READ | 1 |
| p.N318I | SKCM | 1 |
| p.G650E | SKCM | 1 |
| p.A283V | HNSC | 1 |
| p.R684H | HNSC | 1 |
| p.P1112T | BLCA | 1 |
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| TissGeneCNV for CFB |
| 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 CFB |
| 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 | AI207461 | CFB-PARN | chr6:3252074 | chr16:14565308 | |
| Chimerdb3.0 | ChiTaRs | NA | AW363522 | CFB-CFB | chr6:3251225 | chr6:3249926 | |
| Chimerdb3.0 | ChiTaRs | NA | AF130116 | CFB-PARN | chr6:3252074 | chr16:14563544 | |
| Chimerdb3.0 | ChiTaRs | NA | AI280653 | CFB-CFB | chr6:3252570 | chr6:3252455 | |
| Chimerdb3.0 | ChiTaRs | NA | AI904273 | CFB-NCL | chr6:3247163 | chr2:232319957 | |
| Chimerdb3.0 | ChiTaRs | NA | BC007464 | TXNL4B-CFB | chr16:72093066 | chr6:3251654 | |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AC-A2FE-01A | TSPAN3-CFB | NA | Chr15:77338372 | Chr6:31913427 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-BH-A0B6-01A | HLA-C-CFB | NA | Chr6:31236528 | Chr6:31913427 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-BH-A0B6-01A | HSP90B1-CFB | NA | Chr12:104341704 | Chr6:31913427 |
| TCGAfusionPortal | PRADA | HNSC | TCGA-CR-7376-01A | RPL18-CFB | NA | Chr19:49118585 | Chr6:31913427 |
| TCGAfusionPortal | PRADA | LUAD | TCGA-95-A4VN-01A | RPL8-CFB | NA | Chr8:146015155 | Chr6:31913427 |
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| TissGeneNet for CFB |
| 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) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| COAD (tumor) | COAD (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| HNSC (tumor) | HNSC (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| KICH (tumor) | KICH (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| KIRC (tumor) | KIRC (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| KIRP (tumor) | KIRP (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| LIHC (tumor) | LIHC (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| LUAD (tumor) | LUAD (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| LUSC (tumor) | LUSC (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| PRAD (tumor) | PRAD (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| CFB, LAMC3, RPA2, C3, CFP (tumor) | CFB, LAMC3, RPA2, C3, CFP (normal) |
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| TissGeneProg for CFB |
| 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 CFB |
| TissGeneDrug for CFB |
| 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 CFB |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0242383 | Age related macular degeneration | 56 | BeFree,CTD_human,GAD,GWASCAT,LHGDN |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 10 | BeFree,GAD |
| umls:C0024141 | Lupus Erythematosus, Systemic | 5 | CTD_human,GAD |
| umls:C0003873 | Rheumatoid Arthritis | 4 | BeFree |
| umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 4 | BeFree,CTD_human |
| umls:C0002395 | Alzheimer's Disease | 3 | BeFree,GAD |
| umls:C0008521 | Choroid Diseases | 3 | GAD |
| umls:C0019061 | Hemolytic-Uremic Syndrome | 3 | BeFree,GAD |
| umls:C0024437 | Macular degeneration | 3 | BeFree |
| umls:C0085096 | Peripheral Vascular Diseases | 3 | GAD |
| umls:C0271084 | Exudative age-related macular degeneration | 3 | BeFree |
| umls:C0009324 | Ulcerative Colitis | 2 | BeFree,GWASCAT |
| umls:C0011847 | Diabetes | 2 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 2 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | BeFree,GAD |
| umls:C0019693 | HIV Infections | 2 | BeFree,GAD |
| umls:C0026769 | Multiple Sclerosis | 2 | GAD |
| umls:C0035309 | Retinal Diseases | 2 | BeFree,GAD |
| umls:C0036341 | Schizophrenia | 2 | BeFree |
| umls:C0600518 | Choroidal Neovascularization | 2 | GAD |
| umls:C1260959 | Drusen | 2 | BeFree |
| umls:C1536085 | Geographic Atrophy | 2 | BeFree,GAD |
| umls:C2752038 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | 2 | CLINVAR,ORPHANET,UNIPROT |
| umls:C0000786 | Spontaneous abortion | 1 | GAD |
| umls:C0004135 | Ataxia Telangiectasia | 1 | GAD |
| umls:C0004364 | Autoimmune Diseases | 1 | BeFree |
| umls:C0008526 | Choroiditis | 1 | GAD |
| umls:C0010068 | Coronary heart disease | 1 | GAD |
| umls:C0010346 | Crohn Disease | 1 | BeFree |
| umls:C0011570 | Mental Depression | 1 | GAD |
| umls:C0017575 | Necrotizing Ulcerative Gingivitis | 1 | BeFree |
| umls:C0017658 | Glomerulonephritis | 1 | BeFree |
| umls:C0021390 | Inflammatory Bowel Diseases | 1 | BeFree |
| umls:C0022660 | Kidney Failure, Acute | 1 | BeFree |
| umls:C0023449 | Acute lymphocytic leukemia | 1 | BeFree |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
| umls:C0024623 | Malignant neoplasm of stomach | 1 | BeFree |
| umls:C0025303 | Meningococcal Infections | 1 | LHGDN |
| umls:C0026896 | Myasthenia Gravis | 1 | CTD_human |
| umls:C0028754 | Obesity | 1 | BeFree |
| umls:C0030567 | Parkinson Disease | 1 | GAD |
| umls:C0033860 | Psoriasis | 1 | LHGDN |
| umls:C0034341 | Pyruvate Carboxylase Deficiency Disease | 1 | BeFree |
| umls:C0035312 | Retinal Drusen | 1 | GAD |
| umls:C0036690 | Septicemia | 1 | BeFree |
| umls:C0042165 | Anterior uveitis | 1 | BeFree |
| umls:C0042798 | Low Vision | 1 | GAD |
| umls:C0149521 | Pancreatitis, Chronic | 1 | BeFree |
| umls:C0151526 | Premature Birth | 1 | LHGDN |
| umls:C0243026 | Sepsis | 1 | BeFree |
| umls:C0275524 | Coinfection | 1 | BeFree |
| umls:C0524909 | Hepatitis B, Chronic | 1 | BeFree,GWASCAT |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C0684256 | Bacterial sepsis | 1 | BeFree |
| umls:C0685938 | Malignant neoplasm of gastrointestinal tract | 1 | BeFree |
| umls:C0699791 | Stomach Carcinoma | 1 | BeFree |
| umls:C0701807 | Acute anterior uveitis | 1 | BeFree |
| umls:C1335302 | Pancreatic Ductal Adenocarcinoma | 1 | BeFree |
| umls:C1719672 | Severe Sepsis | 1 | BeFree |
| umls:C3665346 | Unspecified visual loss | 1 | BeFree |
| umls:C1864205 | Macular Degeneration, Age-Related, 1 | 0 | CTD_human |
| umls:C3809653 | MACULAR DEGENERATION, AGE-RELATED, 14 | 0 | CLINVAR |
| umls:C3809950 | COMPLEMENT FACTOR B DEFICIENCY | 0 | CLINVAR |
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