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CFHR5 (complement factor H related 5)

Identity

Alias_namesCFHL5
complement factor H-related 5
Alias_symbol (synonym)FHR5
FHR-5
Other aliasCFHR5D
HGNC (Hugo) CFHR5
LocusID (NCBI) 81494
Atlas_Id 61774
Location 1q31.3  [Link to chromosome band 1q31]
Location_base_pair Starts at 196977537 and ends at 197009673 bp from pter ( according to hg38-Dec_2013)

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)CFHR5   24668
LRG (Locus Reference Genomic)LRG_227
Cards
Entrez_Gene (NCBI)CFHR5  81494  complement factor H related 5
AliasesCFHL5; CFHR5D; FHR-5; FHR5
GeneCards (Weizmann)CFHR5
Ensembl hg19 (Hinxton)ENSG00000134389 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134389 [Gene_View]  chr1:196977537-197009673 [Contig_View]  CFHR5 [Vega]
ICGC DataPortalENSG00000134389
TCGA cBioPortalCFHR5
AceView (NCBI)CFHR5
Genatlas (Paris)CFHR5
WikiGenes81494
SOURCE (Princeton)CFHR5
Genetics Home Reference (NIH)CFHR5
Genomic and cartography
GoldenPath hg38 (UCSC)CFHR5  -     chr1:196977537-197009673 +  1q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFHR5  -     1q31.3   [Description]    (hg19-Feb_2009)
EnsemblCFHR5 - 1q31.3 [CytoView hg19]  CFHR5 - 1q31.3 [CytoView hg38]
Mapping of homologs : NCBICFHR5 [Mapview hg19]  CFHR5 [Mapview hg38]
OMIM608593   614809   
Gene and transcription
Genbank (Entrez)AF295327 AK314026 BC026282 BC111773 BG568555
RefSeq transcript (Entrez)NM_030787
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFHR5
Cluster EST : UnigeneHs.282594 [ NCBI ]
CGAP (NCI)Hs.282594
Alternative Splicing GalleryENSG00000134389
Gene ExpressionCFHR5 [ NCBI-GEO ]   CFHR5 [ EBI - ARRAY_EXPRESS ]   CFHR5 [ SEEK ]   CFHR5 [ MEM ]
Gene Expression Viewer (FireBrowse)CFHR5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81494
GTEX Portal (Tissue expression)CFHR5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXR6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXR6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXR6
Splice isoforms : SwissVarQ9BXR6
PhosPhoSitePlusQ9BXR6
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)CFHR5
DMDM Disease mutations81494
Blocks (Seattle)CFHR5
SuperfamilyQ9BXR6
Human Protein AtlasENSG00000134389
Peptide AtlasQ9BXR6
HPRD06508
IPIIPI00843942   IPI00006543   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXR6
IntAct (EBI)Q9BXR6
FunCoupENSG00000134389
BioGRIDCFHR5
STRING (EMBL)CFHR5
ZODIACCFHR5
Ontologies - Pathways
QuickGOQ9BXR6
Ontology : AmiGOprotein binding  extracellular region  complement activation, alternative pathway  
Ontology : EGO-EBIprotein binding  extracellular region  complement activation, alternative pathway  
NDEx NetworkCFHR5
Atlas of Cancer Signalling NetworkCFHR5
Wikipedia pathwaysCFHR5
Orthology - Evolution
OrthoDB81494
GeneTree (enSembl)ENSG00000134389
Phylogenetic Trees/Animal Genes : TreeFamCFHR5
HOVERGENQ9BXR6
HOGENOMQ9BXR6
Homologs : HomoloGeneCFHR5
Homology/Alignments : Family Browser (UCSC)CFHR5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFHR5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFHR5
dbVarCFHR5
ClinVarCFHR5
1000_GenomesCFHR5 
Exome Variant ServerCFHR5
ExAC (Exome Aggregation Consortium)CFHR5 (select the gene name)
Genetic variants : HAPMAP81494
Genomic Variants (DGV)CFHR5 [DGVbeta]
DECIPHERCFHR5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFHR5 
Mutations
ICGC Data PortalCFHR5 
TCGA Data PortalCFHR5 
Broad Tumor PortalCFHR5
OASIS PortalCFHR5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFHR5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFHR5
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 CFHR5
DgiDB (Drug Gene Interaction Database)CFHR5
DoCM (Curated mutations)CFHR5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFHR5 (select a term)
intoGenCFHR5
Cancer3DCFHR5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608593    614809   
Orphanet21948    12421   
MedgenCFHR5
Genetic Testing Registry CFHR5
NextProtQ9BXR6 [Medical]
TSGene81494
GENETestsCFHR5
Target ValidationCFHR5
Huge Navigator CFHR5 [HugePedia]
snp3D : Map Gene to Disease81494
BioCentury BCIQCFHR5
ClinGenCFHR5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81494
Chemical/Pharm GKB GenePA134937417
Clinical trialCFHR5
Miscellaneous
canSAR (ICR)CFHR5 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFHR5
EVEXCFHR5
GoPubMedCFHR5
iHOPCFHR5
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 15:43:29 CEST 2017

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