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CFI (complement factor I)

Identity

Alias_namesIF
I factor (complement)
Alias_symbol (synonym)FI
C3b-INA
KAF
Other aliasAHUS3
ARMD13
C3BINA
HGNC (Hugo) CFI
LocusID (NCBI) 3426
Atlas_Id 47652
Location 4q25  [Link to chromosome band 4q25]
Location_base_pair Starts at 109740692 and ends at 109802225 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CFI (4q25) / RADIL (7p22.1)MAVS (20p13) / CFI (4q25)SEC24D (4q26) / CFI (4q25)
SEC24D 4q26 / CFI 4q25

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

 


External links

Nomenclature
HGNC (Hugo)CFI   5394
LRG (Locus Reference Genomic)LRG_48
Cards
Entrez_Gene (NCBI)CFI  3426  complement factor I
AliasesAHUS3; ARMD13; C3BINA; C3b-INA; 
FI; IF; KAF
GeneCards (Weizmann)CFI
Ensembl hg19 (Hinxton)ENSG00000205403 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205403 [Gene_View]  chr4:109740692-109802225 [Contig_View]  CFI [Vega]
ICGC DataPortalENSG00000205403
TCGA cBioPortalCFI
AceView (NCBI)CFI
Genatlas (Paris)CFI
WikiGenes3426
SOURCE (Princeton)CFI
Genetics Home Reference (NIH)CFI
Genomic and cartography
GoldenPath hg38 (UCSC)CFI  -     chr4:109740692-109802225 -  4q25   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFI  -     4q25   [Description]    (hg19-Feb_2009)
EnsemblCFI - 4q25 [CytoView hg19]  CFI - 4q25 [CytoView hg38]
Mapping of homologs : NCBICFI [Mapview hg19]  CFI [Mapview hg38]
OMIM217030   610984   612923   615439   
Gene and transcription
Genbank (Entrez)AK122686 AK290625 AK299232 BC005275 BC020718
RefSeq transcript (Entrez)NM_000204 NM_001318057 NM_001331035
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFI
Cluster EST : UnigeneHs.312485 [ NCBI ]
CGAP (NCI)Hs.312485
Alternative Splicing GalleryENSG00000205403
Gene ExpressionCFI [ NCBI-GEO ]   CFI [ EBI - ARRAY_EXPRESS ]   CFI [ SEEK ]   CFI [ MEM ]
Gene Expression Viewer (FireBrowse)CFI [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3426
GTEX Portal (Tissue expression)CFI
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05156   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05156  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05156
Splice isoforms : SwissVarP05156
Catalytic activity : Enzyme3.4.21.45 [ Enzyme-Expasy ]   3.4.21.453.4.21.45 [ IntEnz-EBI ]   3.4.21.45 [ BRENDA ]   3.4.21.45 [ KEGG ]   
PhosPhoSitePlusP05156
Domaine pattern : Prosite (Expaxy)KAZAL_2 (PS51465)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    SRCR_2 (PS50287)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)FacI_MAC    Kazal_dom    LDLR_class-A_CS    LDrepeatLR_classA_rpt    Peptidase_S1_PA    Peptidase_S1A    SRCR    SRCR-like_dom    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    SRCR (PF00530)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00057    pfam00530    pfam00089   
Domain families : Smart (EMBL)FIMAC (SM00057)  LDLa (SM00192)  SR (SM00202)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)CFI
DMDM Disease mutations3426
Blocks (Seattle)CFI
PDB (SRS)2XRC   
PDB (PDBSum)2XRC   
PDB (IMB)2XRC   
PDB (RSDB)2XRC   
Structural Biology KnowledgeBase2XRC   
SCOP (Structural Classification of Proteins)2XRC   
CATH (Classification of proteins structures)2XRC   
SuperfamilyP05156
Human Protein AtlasENSG00000205403
Peptide AtlasP05156
HPRD01955
IPIIPI00291867   IPI00935408   IPI01012711   IPI00796990   
Protein Interaction databases
DIP (DOE-UCLA)P05156
IntAct (EBI)P05156
FunCoupENSG00000205403
BioGRIDCFI
STRING (EMBL)CFI
ZODIACCFI
Ontologies - Pathways
QuickGOP05156
Ontology : AmiGOserine-type endopeptidase activity  scavenger receptor activity  protein binding  extracellular region  extracellular space  proteolysis  receptor-mediated endocytosis  complement activation, classical pathway  membrane  regulation of complement activation  innate immune response  metal ion binding  extracellular exosome  
Ontology : EGO-EBIserine-type endopeptidase activity  scavenger receptor activity  protein binding  extracellular region  extracellular space  proteolysis  receptor-mediated endocytosis  complement activation, classical pathway  membrane  regulation of complement activation  innate immune response  metal ion binding  extracellular exosome  
Pathways : KEGGComplement and coagulation cascades    Staphylococcus aureus infection   
NDEx NetworkCFI
Atlas of Cancer Signalling NetworkCFI
Wikipedia pathwaysCFI
Orthology - Evolution
OrthoDB3426
GeneTree (enSembl)ENSG00000205403
Phylogenetic Trees/Animal Genes : TreeFamCFI
HOVERGENP05156
HOGENOMP05156
Homologs : HomoloGeneCFI
Homology/Alignments : Family Browser (UCSC)CFI
Gene fusions - Rearrangements
Fusion: TCGASEC24D 4q26 CFI 4q25 BRCA
Fusion Cancer (Beijing)MAVS [20p13]  -  CFI [4q25]  [FUSC001956]  [FUSC001956]  [FUSC001956]  [FUSC001956]  [FUSC001956]  [FUSC001956]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFI [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFI
dbVarCFI
ClinVarCFI
1000_GenomesCFI 
Exome Variant ServerCFI
ExAC (Exome Aggregation Consortium)CFI (select the gene name)
Genetic variants : HAPMAP3426
Genomic Variants (DGV)CFI [DGVbeta]
DECIPHERCFI [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFI 
Mutations
ICGC Data PortalCFI 
TCGA Data PortalCFI 
Broad Tumor PortalCFI
OASIS PortalCFI [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFI  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFI
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CFI
DgiDB (Drug Gene Interaction Database)CFI
DoCM (Curated mutations)CFI (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFI (select a term)
intoGenCFI
Cancer3DCFI(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM217030    610984    612923    615439   
Orphanet18421    19474    11075    12420   
MedgenCFI
Genetic Testing Registry CFI
NextProtP05156 [Medical]
TSGene3426
GENETestsCFI
Target ValidationCFI
Huge Navigator CFI [HugePedia]
snp3D : Map Gene to Disease3426
BioCentury BCIQCFI
ClinGenCFI
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3426
Chemical/Pharm GKB GenePA29641
Clinical trialCFI
Miscellaneous
canSAR (ICR)CFI (select the gene name)
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFI
EVEXCFI
GoPubMedCFI
iHOPCFI
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:28:08 CEST 2017

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