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CFHR1 (complement factor H related 1)

Identity

Alias_namesHFL1
CFHL1
CFHR1P
HFL2
CFHL1P
H factor (complement)-like 1
complement factor H-related 1 pseudogene
H factor (complement)-like 2
complement factor H-related 1
Alias_symbol (synonym)H36-1
FHR1
CFHL
H36-2
Other alias
HGNC (Hugo) CFHR1
LocusID (NCBI) 3078
Atlas_Id 53854
Location 1q31.3  [Link to chromosome band 1q31]
Location_base_pair Starts at 196819731 and ends at 196832189 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)CFHR1   4888
LRG (Locus Reference Genomic)LRG_149
Cards
Entrez_Gene (NCBI)CFHR1  3078  complement factor H related 1
AliasesCFHL; CFHL1; CFHL1P; CFHR1P; 
FHR1; H36-1; H36-2; HFL1; HFL2
GeneCards (Weizmann)CFHR1
Ensembl hg19 (Hinxton)ENSG00000244414 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244414 [Gene_View]  ENSG00000244414 [Sequence]  chr1:196819731-196832189 [Contig_View]  CFHR1 [Vega]
ICGC DataPortalENSG00000244414
TCGA cBioPortalCFHR1
AceView (NCBI)CFHR1
Genatlas (Paris)CFHR1
WikiGenes3078
SOURCE (Princeton)CFHR1
Genetics Home Reference (NIH)CFHR1
Genomic and cartography
GoldenPath hg38 (UCSC)CFHR1  -     chr1:196819731-196832189 +  1q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CFHR1  -     1q31.3   [Description]    (hg19-Feb_2009)
EnsemblCFHR1 - 1q31.3 [CytoView hg19]  CFHR1 - 1q31.3 [CytoView hg38]
Mapping of homologs : NCBICFHR1 [Mapview hg19]  CFHR1 [Mapview hg38]
OMIM134371   235400   603075   
Gene and transcription
Genbank (Entrez)AI075816 AK290830 AK311681 BC016755 BC107771
RefSeq transcript (Entrez)NM_002113
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CFHR1
Cluster EST : UnigeneHs.575869 [ NCBI ]
CGAP (NCI)Hs.575869
Alternative Splicing GalleryENSG00000244414
Gene ExpressionCFHR1 [ NCBI-GEO ]   CFHR1 [ EBI - ARRAY_EXPRESS ]   CFHR1 [ SEEK ]   CFHR1 [ MEM ]
Gene Expression Viewer (FireBrowse)CFHR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3078
GTEX Portal (Tissue expression)CFHR1
Human Protein AtlasENSG00000244414-CFHR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03591   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03591  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03591
Splice isoforms : SwissVarQ03591
PhosPhoSitePlusQ03591
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)CFHR1
DMDM Disease mutations3078
Blocks (Seattle)CFHR1
PDB (SRS)3ZD2    4MUC   
PDB (PDBSum)3ZD2    4MUC   
PDB (IMB)3ZD2    4MUC   
PDB (RSDB)3ZD2    4MUC   
Structural Biology KnowledgeBase3ZD2    4MUC   
SCOP (Structural Classification of Proteins)3ZD2    4MUC   
CATH (Classification of proteins structures)3ZD2    4MUC   
SuperfamilyQ03591
Human Protein Atlas [tissue]ENSG00000244414-CFHR1 [tissue]
Peptide AtlasQ03591
HPRD00602
IPIIPI00011264   IPI00883722   
Protein Interaction databases
DIP (DOE-UCLA)Q03591
IntAct (EBI)Q03591
FunCoupENSG00000244414
BioGRIDCFHR1
STRING (EMBL)CFHR1
ZODIACCFHR1
Ontologies - Pathways
QuickGOQ03591
Ontology : AmiGOprotein binding  extracellular region  extracellular space  complement activation  regulation of complement activation  negative regulation of protein binding  protein homodimerization activity  protein complex  positive regulation of cytolysis  protein heterodimerization activity  extracellular exosome  blood microparticle  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular space  complement activation  regulation of complement activation  negative regulation of protein binding  protein homodimerization activity  protein complex  positive regulation of cytolysis  protein heterodimerization activity  extracellular exosome  blood microparticle  
NDEx NetworkCFHR1
Atlas of Cancer Signalling NetworkCFHR1
Wikipedia pathwaysCFHR1
Orthology - Evolution
OrthoDB3078
GeneTree (enSembl)ENSG00000244414
Phylogenetic Trees/Animal Genes : TreeFamCFHR1
HOVERGENQ03591
HOGENOMQ03591
Homologs : HomoloGeneCFHR1
Homology/Alignments : Family Browser (UCSC)CFHR1
Gene fusions - Rearrangements
Fusion : QuiverCFHR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFHR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFHR1
dbVarCFHR1
ClinVarCFHR1
1000_GenomesCFHR1 
Exome Variant ServerCFHR1
ExAC (Exome Aggregation Consortium)ENSG00000244414
GNOMAD BrowserENSG00000244414
Genetic variants : HAPMAP3078
Genomic Variants (DGV)CFHR1 [DGVbeta]
DECIPHERCFHR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCFHR1 
Mutations
ICGC Data PortalCFHR1 
TCGA Data PortalCFHR1 
Broad Tumor PortalCFHR1
OASIS PortalCFHR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFHR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFHR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CFHR1
DgiDB (Drug Gene Interaction Database)CFHR1
DoCM (Curated mutations)CFHR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFHR1 (select a term)
intoGenCFHR1
Cancer3DCFHR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM134371    235400    603075   
Orphanet21948    12413    12421   
DisGeNETCFHR1
MedgenCFHR1
Genetic Testing Registry CFHR1
NextProtQ03591 [Medical]
TSGene3078
GENETestsCFHR1
Target ValidationCFHR1
Huge Navigator CFHR1 [HugePedia]
snp3D : Map Gene to Disease3078
BioCentury BCIQCFHR1
ClinGenCFHR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3078
Chemical/Pharm GKB GenePA29265
Clinical trialCFHR1
Miscellaneous
canSAR (ICR)CFHR1 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFHR1
EVEXCFHR1
GoPubMedCFHR1
iHOPCFHR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:19:10 CEST 2018

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