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CFH (complement factor H)

Identity

Other namesAHUS1
AMBP1
ARMD4
ARMS1
CFHL3
FH
FHL1
HF
HF1
HF2
HUS
HGNC (Hugo) CFH
LocusID (NCBI) 3075
Location 1q31.3
Location_base_pair Starts at 196621008 and ends at 196716634 bp from pter ( according to hg19-Feb_2009)
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)CFH   4883
Cards
Entrez_Gene (NCBI)CFH  3075  complement factor H
GeneCards (Weizmann)CFH
Ensembl hg19 (Hinxton)ENSG00000000971 [Gene_View]  chr1:196621008-196716634 [Contig_View]  CFH [Vega]
Ensembl hg38 (Hinxton)ENSG00000000971 [Gene_View]  chr1:196621008-196716634 [Contig_View]  CFH [Vega]
ICGC DataPortalENSG00000000971
cBioPortalCFH
AceView (NCBI)CFH
Genatlas (Paris)CFH
WikiGenes3075
SOURCE (Princeton)CFH
Genomic and cartography
GoldenPath hg19 (UCSC)CFH  -     chr1:196621008-196716634 +  1q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CFH  -     1q31.3   [Description]    (hg38-Dec_2013)
EnsemblCFH - 1q31.3 [CytoView hg19]  CFH - 1q31.3 [CytoView hg38]
Mapping of homologs : NCBICFH [Mapview hg19]  CFH [Mapview hg38]
OMIM126700   134370   235400   609814   610698   
Gene and transcription
Genbank (Entrez)AI568119 AK225649 AK226113 AK291395 BC012610
RefSeq transcript (Entrez)NM_000186 NM_001014975
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_007259 NT_004487 NW_001838533 NW_004929293
Consensus coding sequences : CCDS (NCBI)CFH
Cluster EST : UnigeneHs.363396 [ NCBI ]
CGAP (NCI)Hs.363396
Alternative Splicing : Fast-db (Paris)GSHG0001297
Alternative Splicing GalleryENSG00000000971
Gene ExpressionCFH [ NCBI-GEO ]     CFH [ SEEK ]   CFH [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08603 (Uniprot)
NextProtP08603  [Medical]
With graphics : InterProP08603
Splice isoforms : SwissVarP08603 (Swissvar)
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)   
Domains : Interpro (EBI)Sushi_SCR_CCP   
Related proteins : CluSTrP08603
Domain families : Pfam (Sanger)Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  
DMDM Disease mutations3075
Blocks (Seattle)P08603
PDB (SRS)1FHC    1HAQ    1HCC    1HFH    1HFI    1KOV    2BZM    2G7I    2IC4    2JGW    2JGX    2KMS    2QFG    2QFH    2RLP    2RLQ    2UWN    2V8E    2W80    2W81    2WII    2XQW    3GAU    3GAV    3GAW    3KXV    3KZJ    3OXU    3R62    3RJ3    3SW0    4AYD    4AYE    4AYI    4AYM    4B2R    4B2S    4J38    4K12   
PDB (PDBSum)1FHC    1HAQ    1HCC    1HFH    1HFI    1KOV    2BZM    2G7I    2IC4    2JGW    2JGX    2KMS    2QFG    2QFH    2RLP    2RLQ    2UWN    2V8E    2W80    2W81    2WII    2XQW    3GAU    3GAV    3GAW    3KXV    3KZJ    3OXU    3R62    3RJ3    3SW0    4AYD    4AYE    4AYI    4AYM    4B2R    4B2S    4J38    4K12   
PDB (IMB)1FHC    1HAQ    1HCC    1HFH    1HFI    1KOV    2BZM    2G7I    2IC4    2JGW    2JGX    2KMS    2QFG    2QFH    2RLP    2RLQ    2UWN    2V8E    2W80    2W81    2WII    2XQW    3GAU    3GAV    3GAW    3KXV    3KZJ    3OXU    3R62    3RJ3    3SW0    4AYD    4AYE    4AYI    4AYM    4B2R    4B2S    4J38    4K12   
PDB (RSDB)1FHC    1HAQ    1HCC    1HFH    1HFI    1KOV    2BZM    2G7I    2IC4    2JGW    2JGX    2KMS    2QFG    2QFH    2RLP    2RLQ    2UWN    2V8E    2W80    2W81    2WII    2XQW    3GAU    3GAV    3GAW    3KXV    3KZJ    3OXU    3R62    3RJ3    3SW0    4AYD    4AYE    4AYI    4AYM    4B2R    4B2S    4J38    4K12   
Human Protein AtlasENSG00000000971
Peptide AtlasP08603
HPRD00601
IPIIPI00029739   IPI00942414   IPI00218999   IPI01026144   IPI00515041   
Protein Interaction databases
DIP (DOE-UCLA)P08603
IntAct (EBI)P08603
FunCoupENSG00000000971
BioGRIDCFH
IntegromeDBCFH
STRING (EMBL)CFH
Ontologies - Pathways
QuickGOP08603
Ontology : AmiGOprotein binding  extracellular region  extracellular space  complement activation  complement activation, alternative pathway  heparin binding  regulation of complement activation  heparan sulfate proteoglycan binding  innate immune response  blood microparticle  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular space  complement activation  complement activation, alternative pathway  heparin binding  regulation of complement activation  heparan sulfate proteoglycan binding  innate immune response  blood microparticle  
Pathways : KEGGComplement and coagulation cascades    Staphylococcus aureus infection   
Protein Interaction DatabaseCFH
DoCM (Curated mutations)CFH
Wikipedia pathwaysCFH
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCFH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFH
dbVarCFH
ClinVarCFH
1000_GenomesCFH 
Exome Variant ServerCFH
SNP (GeneSNP Utah)CFH
SNP : HGBaseCFH
Genetic variants : HAPMAPCFH
Genomic VariantsCFH  CFH [DGVbeta]
Mutations
ICGC Data PortalENSG00000000971 
Somatic Mutations in Cancer : COSMICCFH 
CONAN: Copy Number AnalysisCFH 
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:196621008-196716634
Mutations and Diseases : HGMDCFH
OMIM126700    134370    235400    609814    610698   
MedgenCFH
NextProtP08603 [Medical]
GENETestsCFH
Disease Genetic AssociationCFH
Huge Navigator CFH [HugePedia]  CFH [HugeCancerGEM]
snp3D : Map Gene to Disease3075
DGIdb (Drug Gene Interaction db)CFH
General knowledge
Homologs : HomoloGeneCFH
Homology/Alignments : Family Browser (UCSC)CFH
Phylogenetic Trees/Animal Genes : TreeFamCFH
Chemical/Protein Interactions : CTD3075
Chemical/Pharm GKB GenePA29261
Clinical trialCFH
Cancer Resource (Charite)ENSG00000000971
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineCFH
GoPubMedCFH
iHOPCFH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:49:06 CET 2014
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