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mutLBSgeneDB |
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| Gene summary for CFB |
 Gene summary |
| Basic gene Info. | 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: P00751 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 mutLBSgeneDB | B: This gene belongs to targetable_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 CFB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S351 | S351L | COAD | 1 | S278 | S278T | HNSC | 1 | E509 | G507E | SKCM | 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 CFB |
| 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 | S278 | S278T | -1.3127835 | E509 | G507E | -0.65111483 | S351 | S351L | -0.2267354 |
| (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 CFB from PDB |
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| Differential gene expression and gene-gene network for CFB |
| 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 CFB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0242383 | Macular Degeneration | 52 | Biomarker, GeneticVariation |
| umls:C0024141 | Lupus Erythematosus, Systemic | 5 | Biomarker, GeneticVariation |
| umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 3 | Biomarker |
| umls:C2752038 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | 2 | GeneticVariation |
| umls:C0270611 | Brain Injuries | 1 | Biomarker |
| umls:C0026896 | Myasthenia Gravis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CFB |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02459 | 4-Guanidinobenzoic Acid | Small molecule |  |
| Experimental | DB04491 | Diisopropylphosphono Group | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CFB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CFB |
| Multiple alignments for P00751 in multiple species |
| LBS | AA sequence | # species | Species | C695 | ADPNTCRGDSG | 2 | Homo sapiens, Pan troglodytes | C695 | ADPNTCKGDSG | 1 | Bos taurus | E509 | PSKGHESCMGA | 3 | Homo sapiens, Bos taurus, Pan troglodytes | E97 | TVRKAECRAIH | 2 | Homo sapiens, Pan troglodytes | E97 | IVKRAECKAIR | 1 | Bos taurus | G697 | PNTCRGDSGGP | 2 | Homo sapiens, Pan troglodytes | G697 | PNTCKGDSGGP | 1 | Bos taurus | G720 | GVISWGVVDVC | 3 | Homo sapiens, Bos taurus, Pan troglodytes | H526 | VLTAAHCFTVD | 3 | Homo sapiens, Bos taurus, Pan troglodytes | K45 | EGVEIKGGSFR | 3 | Homo sapiens, Bos taurus, Pan troglodytes | K732 | NQKRQKQVPAH | 2 | Homo sapiens, Pan troglodytes | K732 | --KRPQQVPGY | 1 | Bos taurus | R696 | DPNTCRGDSGG | 2 | Homo sapiens, Pan troglodytes | R696 | DPNTCKGDSGG | 1 | Bos taurus | R99 | RKAECRAIHCP | 2 | Homo sapiens, Pan troglodytes | R99 | KRAECKAIRCP | 1 | Bos taurus | S278 | LVLDGSDSIGA | 2 | Homo sapiens, Pan troglodytes | S278 | LVLDGSDSVGA | 1 | Bos taurus | S280 | LDGSDSIGASN | 2 | Homo sapiens, Pan troglodytes | S280 | LDGSDSVGAHN | 1 | Bos taurus | S351 | DHKLKSGTNTK | 2 | Homo sapiens, Pan troglodytes | S351 | DHKLKAGTNTK | 1 | Bos taurus | S699 | TCRGDSGGPLI | 2 | Homo sapiens, Pan troglodytes | S699 | TCKGDSGGPLI | 1 | Bos taurus | S718 | QVGVISWGVVD | 3 | Homo sapiens, Bos taurus, Pan troglodytes | T353 | KLKSGTNTKKA | 2 | Homo sapiens, Pan troglodytes | T353 | KLKAGTNTKRA | 1 | Bos taurus | T694 | YADPNTCRGDS | 2 | Homo sapiens, Pan troglodytes | T694 | YADPNTCKGDS | 1 | Bos taurus | V722 | ISWGVVDVCKN | 2 | Homo sapiens, Pan troglodytes | V722 | ISWGVVDVC-- | 1 | Bos taurus | W719 | VGVISWGVVDV | 3 | Homo sapiens, Bos taurus, Pan troglodytes |
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