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CFHR3 (complement factor H related 3)

Identity

Alias_namesCFHL3
complement factor H-related 3
Alias_symbol (synonym)FHR-3
HLF4
FHR3
DOWN16
Other alias
HGNC (Hugo) CFHR3
LocusID (NCBI) 10878
Atlas_Id 61772
Location 1q31.3  [Link to chromosome band 1q31]
Location_base_pair Starts at 196774800 and ends at 196794073 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)

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)CFHR3   16980
LRG (Locus Reference Genomic)LRG_175
Cards
Entrez_Gene (NCBI)CFHR3  10878  complement factor H related 3
AliasesCFHL3; DOWN16; FHR-3; FHR3; 
HLF4
GeneCards (Weizmann)CFHR3
Ensembl hg19 (Hinxton)ENSG00000116785 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116785 [Gene_View]  chr1:196774800-196794073 [Contig_View]  CFHR3 [Vega]
ICGC DataPortalENSG00000116785
TCGA cBioPortalCFHR3
AceView (NCBI)CFHR3
Genatlas (Paris)CFHR3
WikiGenes10878
SOURCE (Princeton)CFHR3
Genetics Home Reference (NIH)CFHR3
Genomic and cartography
GoldenPath hg38 (UCSC)CFHR3  -     chr1:196774800-196794073 +  1q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFHR3  -     1q31.3   [Description]    (hg19-Feb_2009)
EnsemblCFHR3 - 1q31.3 [CytoView hg19]  CFHR3 - 1q31.3 [CytoView hg38]
Mapping of homologs : NCBICFHR3 [Mapview hg19]  CFHR3 [Mapview hg38]
OMIM235400   603075   605336   
Gene and transcription
Genbank (Entrez)AK298459 BC020680 BC020687 BC058009 BC070259
RefSeq transcript (Entrez)NM_001166624 NM_021023
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFHR3
Cluster EST : UnigeneHs.709217 [ NCBI ]
CGAP (NCI)Hs.709217
Alternative Splicing GalleryENSG00000116785
Gene ExpressionCFHR3 [ NCBI-GEO ]   CFHR3 [ EBI - ARRAY_EXPRESS ]   CFHR3 [ SEEK ]   CFHR3 [ MEM ]
Gene Expression Viewer (FireBrowse)CFHR3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10878
GTEX Portal (Tissue expression)CFHR3
Human Protein AtlasENSG00000116785-CFHR3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02985   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02985  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02985
Splice isoforms : SwissVarQ02985
PhosPhoSitePlusQ02985
Domaine pattern : Prosite (Expaxy)SUSHI (PS50923)   
Domains : Interpro (EBI)Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  
Conserved Domain (NCBI)CFHR3
DMDM Disease mutations10878
Blocks (Seattle)CFHR3
SuperfamilyQ02985
Human Protein Atlas [tissue]ENSG00000116785-CFHR3 [tissue]
Peptide AtlasQ02985
HPRD05626
IPIIPI00027507   IPI01015561   IPI00844262   IPI00908535   
Protein Interaction databases
DIP (DOE-UCLA)Q02985
IntAct (EBI)Q02985
FunCoupENSG00000116785
BioGRIDCFHR3
STRING (EMBL)CFHR3
ZODIACCFHR3
Ontologies - Pathways
QuickGOQ02985
Ontology : AmiGOextracellular space  extracellular exosome  blood microparticle  
Ontology : EGO-EBIextracellular space  extracellular exosome  blood microparticle  
NDEx NetworkCFHR3
Atlas of Cancer Signalling NetworkCFHR3
Wikipedia pathwaysCFHR3
Orthology - Evolution
OrthoDB10878
GeneTree (enSembl)ENSG00000116785
Phylogenetic Trees/Animal Genes : TreeFamCFHR3
HOVERGENQ02985
HOGENOMQ02985
Homologs : HomoloGeneCFHR3
Homology/Alignments : Family Browser (UCSC)CFHR3
Gene fusions - Rearrangements
Fusion: Tumor Portal CFHR3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFHR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFHR3
dbVarCFHR3
ClinVarCFHR3
1000_GenomesCFHR3 
Exome Variant ServerCFHR3
ExAC (Exome Aggregation Consortium)ENSG00000116785
GNOMAD BrowserENSG00000116785
Genetic variants : HAPMAP10878
Genomic Variants (DGV)CFHR3 [DGVbeta]
DECIPHERCFHR3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFHR3 
Mutations
ICGC Data PortalCFHR3 
TCGA Data PortalCFHR3 
Broad Tumor PortalCFHR3
OASIS PortalCFHR3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFHR3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFHR3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CFHR3
DgiDB (Drug Gene Interaction Database)CFHR3
DoCM (Curated mutations)CFHR3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFHR3 (select a term)
intoGenCFHR3
Cancer3DCFHR3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM235400    603075    605336   
Orphanet12421   
MedgenCFHR3
Genetic Testing Registry CFHR3
NextProtQ02985 [Medical]
TSGene10878
GENETestsCFHR3
Target ValidationCFHR3
Huge Navigator CFHR3 [HugePedia]
snp3D : Map Gene to Disease10878
BioCentury BCIQCFHR3
ClinGenCFHR3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10878
Chemical/Pharm GKB GenePA134909646
Clinical trialCFHR3
Miscellaneous
canSAR (ICR)CFHR3 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFHR3
EVEXCFHR3
GoPubMedCFHR3
iHOPCFHR3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:42:29 CET 2017

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