Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CFH (complement factor H)

Identity

Alias_namesHF
HF1
HF2
H factor 1 (complement)
Alias_symbol (synonym)HUS
FHL1
ARMS1
ARMD4
Other aliasAHUS1
AMBP1
CFHL3
FH
HGNC (Hugo) CFH
LocusID (NCBI) 3075
Atlas_Id 40814
Location 1q31.3  [Link to chromosome band 1q31]
Location_base_pair Starts at 196651878 and ends at 196701565 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)
CDC42BPA (1q42.13) / CFH (1q31.3)CFH (1q31.3) / CFH (1q31.3)CFH (1q31.3) / COL12A1 (6q13)
CFH (1q31.3) / GPC6 (13q31.3)CFH (1q31.3) / TP53INP1 (8q22.1)CFH (1q31.3) / VKORC1L1 (7q11.21)
UBE2H (7q32.2) / CFH (1q31.3)

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
LRG (Locus Reference Genomic)LRG_47
Cards
Entrez_Gene (NCBI)CFH  3075  complement factor H
AliasesAHUS1; AMBP1; ARMD4; ARMS1; 
CFHL3; FH; FHL1; HF; HF1; HF2; HUS
GeneCards (Weizmann)CFH
Ensembl hg19 (Hinxton)ENSG00000000971 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000000971 [Gene_View]  ENSG00000000971 [Sequence]  chr1:196651878-196701565 [Contig_View]  CFH [Vega]
ICGC DataPortalENSG00000000971
TCGA cBioPortalCFH
AceView (NCBI)CFH
Genatlas (Paris)CFH
WikiGenes3075
SOURCE (Princeton)CFH
Genetics Home Reference (NIH)CFH
Genomic and cartography
GoldenPath hg38 (UCSC)CFH  -     chr1:196651878-196701565 +  1q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFH  -     1q31.3   [Description]    (hg19-Feb_2009)
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)
Consensus coding sequences : CCDS (NCBI)CFH
Cluster EST : UnigeneHs.363396 [ NCBI ]
CGAP (NCI)Hs.363396
Alternative Splicing GalleryENSG00000000971
Gene ExpressionCFH [ NCBI-GEO ]   CFH [ EBI - ARRAY_EXPRESS ]   CFH [ SEEK ]   CFH [ MEM ]
Gene Expression Viewer (FireBrowse)CFH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3075
GTEX Portal (Tissue expression)CFH
Human Protein AtlasENSG00000000971-CFH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08603   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08603  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08603
Splice isoforms : SwissVarP08603
PhosPhoSitePlusP08603
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)   
Domains : Interpro (EBI)Sushi/SCR/CCP_sf    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  
Conserved Domain (NCBI)CFH
DMDM Disease mutations3075
Blocks (Seattle)CFH
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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
Structural Biology KnowledgeBase1FHC    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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
SCOP (Structural Classification of Proteins)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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
CATH (Classification of proteins structures)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    4ONT    4ZH1    5NBQ    5O32    5O35    5WTB   
SuperfamilyP08603
Human Protein Atlas [tissue]ENSG00000000971-CFH [tissue]
Peptide AtlasP08603
HPRD00601
IPIIPI00029739   IPI00942414   IPI00218999   IPI01026144   IPI00515041   
Protein Interaction databases
DIP (DOE-UCLA)P08603
IntAct (EBI)P08603
FunCoupENSG00000000971
BioGRIDCFH
STRING (EMBL)CFH
ZODIACCFH
Ontologies - Pathways
QuickGOP08603
Ontology : AmiGOprotein binding  extracellular region  extracellular space  complement activation  complement activation, alternative pathway  heparin binding  viral process  regulation of complement activation  heparan sulfate proteoglycan binding  extracellular exosome  blood microparticle  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular space  complement activation  complement activation, alternative pathway  heparin binding  viral process  regulation of complement activation  heparan sulfate proteoglycan binding  extracellular exosome  blood microparticle  
Pathways : KEGGComplement and coagulation cascades    Staphylococcus aureus infection   
NDEx NetworkCFH
Atlas of Cancer Signalling NetworkCFH
Wikipedia pathwaysCFH
Orthology - Evolution
OrthoDB3075
GeneTree (enSembl)ENSG00000000971
Phylogenetic Trees/Animal Genes : TreeFamCFH
HOVERGENP08603
HOGENOMP08603
Homologs : HomoloGeneCFH
Homology/Alignments : Family Browser (UCSC)CFH
Gene fusions - Rearrangements
Fusion : QuiverCFH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFH
dbVarCFH
ClinVarCFH
1000_GenomesCFH 
Exome Variant ServerCFH
ExAC (Exome Aggregation Consortium)ENSG00000000971
GNOMAD BrowserENSG00000000971
Varsome BrowserCFH
Genetic variants : HAPMAP3075
Genomic Variants (DGV)CFH [DGVbeta]
DECIPHERCFH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFH 
Mutations
ICGC Data PortalCFH 
TCGA Data PortalCFH 
Broad Tumor PortalCFH
OASIS PortalCFH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFH
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
BioMutasearch CFH
DgiDB (Drug Gene Interaction Database)CFH
DoCM (Curated mutations)CFH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFH (select a term)
intoGenCFH
Cancer3DCFH(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM126700    134370    235400    609814    610698   
Orphanet18422    19474    21946    11075    12413    12419   
DisGeNETCFH
MedgenCFH
Genetic Testing Registry CFH
NextProtP08603 [Medical]
TSGene3075
GENETestsCFH
Target ValidationCFH
Huge Navigator CFH [HugePedia]
snp3D : Map Gene to Disease3075
BioCentury BCIQCFH
ClinGenCFH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3075
Chemical/Pharm GKB GenePA29261
Clinical trialCFH
Miscellaneous
canSAR (ICR)CFH (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFH
EVEXCFH
GoPubMedCFH
iHOPCFH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:15:05 CEST 2018
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