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CFB (complement factor B)

Identity

Alias_namesBFD
BF
B-factor
Alias_symbol (synonym)H2-Bf
Other aliasAHUS4
ARMD14
CFAB
CFBD
FB
FBI12
GBG
PBF2
HGNC (Hugo) CFB
LocusID (NCBI) 629
Atlas_Id 51771
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31945944 and ends at 31952084 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CFB (6p21.33) / CFB (6p21.33)CFB (6p21.33) / NCL (2q37.1)CFB (6p21.33) / PARN (16p13.12)
HLA-C (6p21.33) / CFB (6p21.33)HSP90B1 (12q23.3) / CFB (6p21.33)RPL18 (19q13.33) / CFB (6p21.33)
RPL8 (8q24.3) / CFB (6p21.33)TSPAN3 (15q24.3) / CFB (6p21.33)TXNL4B (16q22.2) / CFB (6p21.33)
HLA-C 6p21.33 / CFB 6p21.33HSP90B1 12q23.3 / CFB 6p21.33RPL18 19q13.33 / CFB 6p21.33
RPL8 8q24.3 / CFB 6p21.33TSPAN3 15q24.3 / CFB 6p21.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(6;6)(p21;p21) HLA-C/CFB
t(6;8)(p21;q24) RPL8/CFB
t(6;12)(p21;q23) HSP90B1/CFB
t(6;15)(p21;q24) TSPAN3/CFB
t(6;19)(p21;q13) RPL18/CFB


External links

Nomenclature
HGNC (Hugo)CFB   1037
LRG (Locus Reference Genomic)LRG_136
Cards
Entrez_Gene (NCBI)CFB  629  complement factor B
AliasesAHUS4; ARMD14; BF; BFD; 
CFAB; CFBD; FB; FBI12; GBG; H2-Bf; PBF2
GeneCards (Weizmann)CFB
Ensembl hg19 (Hinxton)ENSG00000243649 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000243649 [Gene_View]  ENSG00000243649 [Sequence]  chr6:31945944-31952084 [Contig_View]  CFB [Vega]
ICGC DataPortalENSG00000243649
TCGA cBioPortalCFB
AceView (NCBI)CFB
Genatlas (Paris)CFB
WikiGenes629
SOURCE (Princeton)CFB
Genetics Home Reference (NIH)CFB
Genomic and cartography
GoldenPath hg38 (UCSC)CFB  -     chr6:31945944-31952084 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFB  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblCFB - 6p21.33 [CytoView hg19]  CFB - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBICFB [Mapview hg19]  CFB [Mapview hg38]
OMIM138470   612924   615489   615561   
Gene and transcription
Genbank (Entrez)AF349679 AH001502 AH001502 AK130533 AK223400
RefSeq transcript (Entrez)NM_001710
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_008191 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)CFB
Cluster EST : UnigeneHs.69771 [ NCBI ]
CGAP (NCI)Hs.69771
Alternative Splicing GalleryENSG00000243649
Gene ExpressionCFB [ NCBI-GEO ]   CFB [ EBI - ARRAY_EXPRESS ]   CFB [ SEEK ]   CFB [ MEM ]
Gene Expression Viewer (FireBrowse)CFB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)629
GTEX Portal (Tissue expression)CFB
Human Protein AtlasENSG00000243649-CFB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00751   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00751  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00751
Splice isoforms : SwissVarP00751
Catalytic activity : Enzyme3.4.21.47 [ Enzyme-Expasy ]   3.4.21.473.4.21.47 [ IntEnz-EBI ]   3.4.21.47 [ BRENDA ]   3.4.21.47 [ KEGG ]   
PhosPhoSitePlusP00751
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)    VWFA (PS50234)   
Domains : Interpro (EBI)Compl_C2_B    Complement_B    Peptidase_S1_PA    Peptidase_S1A    Sushi_SCR_CCP_dom    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER    VWF_A   
Domain families : Pfam (Sanger)Sushi (PF00084)    Trypsin (PF00089)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam00084    pfam00089    pfam00092   
Domain families : Smart (EMBL)CCP (SM00032)  Tryp_SPc (SM00020)  VWA (SM00327)  
Conserved Domain (NCBI)CFB
DMDM Disease mutations629
Blocks (Seattle)CFB
PDB (SRS)1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
PDB (PDBSum)1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
PDB (IMB)1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
PDB (RSDB)1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
Structural Biology KnowledgeBase1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
SCOP (Structural Classification of Proteins)1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
CATH (Classification of proteins structures)1DLE    1Q0P    1RRK    1RS0    1RTK    2OK5    2WIN    2XWB    2XWJ    3HRZ    3HS0   
SuperfamilyP00751
Human Protein Atlas [tissue]ENSG00000243649-CFB [tissue]
Peptide AtlasP00751
HPRD00718
IPIIPI00921523   IPI00218508   IPI00939824   IPI01021553   IPI00947478   IPI00893864   IPI00019591   IPI00947137   IPI00946695   IPI00945859   
Protein Interaction databases
DIP (DOE-UCLA)P00751
IntAct (EBI)P00751
FunCoupENSG00000243649
BioGRIDCFB
STRING (EMBL)CFB
ZODIACCFB
Ontologies - Pathways
QuickGOP00751
Ontology : AmiGOcomplement binding  serine-type endopeptidase activity  protein binding  extracellular region  extracellular space  plasma membrane  proteolysis  complement activation  complement activation, alternative pathway  complement activation, alternative pathway  regulation of complement activation  extracellular exosome  blood microparticle  
Ontology : EGO-EBIcomplement binding  serine-type endopeptidase activity  protein binding  extracellular region  extracellular space  plasma membrane  proteolysis  complement activation  complement activation, alternative pathway  complement activation, alternative pathway  regulation of complement activation  extracellular exosome  blood microparticle  
Pathways : BIOCARTAAlternative Complement Pathway [Genes]    Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkCFB
Atlas of Cancer Signalling NetworkCFB
Wikipedia pathwaysCFB
Orthology - Evolution
OrthoDB629
GeneTree (enSembl)ENSG00000243649
Phylogenetic Trees/Animal Genes : TreeFamCFB
HOVERGENP00751
HOGENOMP00751
Homologs : HomoloGeneCFB
Homology/Alignments : Family Browser (UCSC)CFB
Gene fusions - Rearrangements
Fusion : MitelmanHLA-C/CFB [6p21.33/6p21.33]  [t(6;6)(p21;p21)]  
Fusion : MitelmanHSP90B1/CFB [12q23.3/6p21.33]  [t(6;12)(p21;q23)]  
Fusion : MitelmanRPL18/CFB [19q13.33/6p21.33]  [t(6;19)(p21;q13)]  
Fusion : MitelmanRPL8/CFB [8q24.3/6p21.33]  [t(6;8)(p21;q24)]  
Fusion : MitelmanTSPAN3/CFB [15q24.3/6p21.33]  [t(6;15)(p21;q24)]  
Fusion PortalHLA-C 6p21.33 CFB 6p21.33 BRCA
Fusion PortalHSP90B1 12q23.3 CFB 6p21.33 BRCA
Fusion PortalRPL18 19q13.33 CFB 6p21.33 HNSC
Fusion PortalRPL8 8q24.3 CFB 6p21.33 LUAD
Fusion PortalTSPAN3 15q24.3 CFB 6p21.33 BRCA
Fusion : QuiverCFB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFB
dbVarCFB
ClinVarCFB
1000_GenomesCFB 
Exome Variant ServerCFB
ExAC (Exome Aggregation Consortium)ENSG00000243649
GNOMAD BrowserENSG00000243649
Genetic variants : HAPMAP629
Genomic Variants (DGV)CFB [DGVbeta]
DECIPHERCFB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFB 
Mutations
ICGC Data PortalCFB 
TCGA Data PortalCFB 
Broad Tumor PortalCFB
OASIS PortalCFB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CFB
DgiDB (Drug Gene Interaction Database)CFB
DoCM (Curated mutations)CFB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFB (select a term)
intoGenCFB
Cancer3DCFB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138470    612924    615489    615561   
Orphanet12418   
DisGeNETCFB
MedgenCFB
Genetic Testing Registry CFB
NextProtP00751 [Medical]
TSGene629
GENETestsCFB
Target ValidationCFB
Huge Navigator CFB [HugePedia]
snp3D : Map Gene to Disease629
BioCentury BCIQCFB
ClinGenCFB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD629
Chemical/Pharm GKB GenePA25341
Clinical trialCFB
Miscellaneous
canSAR (ICR)CFB (select the gene name)
Probes
Litterature
PubMed176 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFB
EVEXCFB
GoPubMedCFB
iHOPCFB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:19:09 CEST 2018

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