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C1R (complement C1r)

Identity

Alias_namescomplement component 1
Other aliasEDSPD1
HGNC (Hugo) C1R
LocusID (NCBI) 715
Atlas_Id 56517
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 7080211 and ends at 7092447 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)
C1R (12p13.31) / MYO9B (19p13.11)C1R (12p13.31) / PCBP4 (3p21.2)C1R (12p13.31) / RPRD1A (18q12.2)
FBXW2 (9q33.2) / C1R (12p13.31)RYK (3q22.2) / C1R (12p13.31)

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)C1R   1246
Cards
Entrez_Gene (NCBI)C1R  715  complement C1r
AliasesEDSPD1
GeneCards (Weizmann)C1R
Ensembl hg19 (Hinxton)ENSG00000159403 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159403 [Gene_View]  chr12:7080211-7092447 [Contig_View]  C1R [Vega]
ICGC DataPortalENSG00000159403
TCGA cBioPortalC1R
AceView (NCBI)C1R
Genatlas (Paris)C1R
WikiGenes715
SOURCE (Princeton)C1R
Genetics Home Reference (NIH)C1R
Genomic and cartography
GoldenPath hg38 (UCSC)C1R  -     chr12:7080211-7092447 -  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C1R  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblC1R - 12p13.31 [CytoView hg19]  C1R - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIC1R [Mapview hg19]  C1R [Mapview hg38]
OMIM130080   216950   613785   
Gene and transcription
Genbank (Entrez)AK024951 AK094009 AK222481 AK222491 AK291313
RefSeq transcript (Entrez)NM_001733
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C1R
Cluster EST : UnigeneHs.524224 [ NCBI ]
CGAP (NCI)Hs.524224
Alternative Splicing GalleryENSG00000159403
Gene ExpressionC1R [ NCBI-GEO ]   C1R [ EBI - ARRAY_EXPRESS ]   C1R [ SEEK ]   C1R [ MEM ]
Gene Expression Viewer (FireBrowse)C1R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)715
GTEX Portal (Tissue expression)C1R
Human Protein AtlasENSG00000159403-C1R [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00736   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00736  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00736
Splice isoforms : SwissVarP00736
Catalytic activity : Enzyme3.4.21.41 [ Enzyme-Expasy ]   3.4.21.413.4.21.41 [ IntEnz-EBI ]   3.4.21.41 [ BRENDA ]   3.4.21.41 [ KEGG ]   
PhosPhoSitePlusP00736
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CUB (PS01180)    EGF_2 (PS01186)    EGF_CA (PS01187)    SUSHI (PS50923)    TRYPSIN_DOM (PS50240)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)CUB_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Pept_S1A_C1r/C1S/mannan-bd    Peptidase_S1_PA    Peptidase_S1A    Sushi_SCR_CCP_dom    Trypsin_dom    TRYPSIN_SER   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00431    pfam00084    pfam00089   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  EGF (SM00181)  EGF_CA (SM00179)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)C1R
DMDM Disease mutations715
Blocks (Seattle)C1R
PDB (SRS)1APQ    1GPZ    1MD7    1MD8    2QY0   
PDB (PDBSum)1APQ    1GPZ    1MD7    1MD8    2QY0   
PDB (IMB)1APQ    1GPZ    1MD7    1MD8    2QY0   
PDB (RSDB)1APQ    1GPZ    1MD7    1MD8    2QY0   
Structural Biology KnowledgeBase1APQ    1GPZ    1MD7    1MD8    2QY0   
SCOP (Structural Classification of Proteins)1APQ    1GPZ    1MD7    1MD8    2QY0   
CATH (Classification of proteins structures)1APQ    1GPZ    1MD7    1MD8    2QY0   
SuperfamilyP00736
Human Protein Atlas [tissue]ENSG00000159403-C1R [tissue]
Peptide AtlasP00736
HPRD01954
IPIIPI00296165   IPI00956148   IPI01011865   IPI01010467   IPI01009165   IPI01015002   IPI01010209   IPI01015781   IPI01014533   IPI01013390   
Protein Interaction databases
DIP (DOE-UCLA)P00736
IntAct (EBI)P00736
FunCoupENSG00000159403
BioGRIDC1R
STRING (EMBL)C1R
ZODIACC1R
Ontologies - Pathways
QuickGOP00736
Ontology : AmiGOserine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  extracellular region  extracellular space  immune response  complement activation  complement activation, classical pathway  serine-type peptidase activity  zymogen activation  innate immune response  extracellular exosome  blood microparticle  
Ontology : EGO-EBIserine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  extracellular region  extracellular space  immune response  complement activation  complement activation, classical pathway  serine-type peptidase activity  zymogen activation  innate immune response  extracellular exosome  blood microparticle  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Complement Pathway [Genes]   
Pathways : KEGGPhagosome    Complement and coagulation cascades    Pertussis    Staphylococcus aureus infection    Systemic lupus erythematosus   
NDEx NetworkC1R
Atlas of Cancer Signalling NetworkC1R
Wikipedia pathwaysC1R
Orthology - Evolution
OrthoDB715
GeneTree (enSembl)ENSG00000159403
Phylogenetic Trees/Animal Genes : TreeFamC1R
HOVERGENP00736
HOGENOMP00736
Homologs : HomoloGeneC1R
Homology/Alignments : Family Browser (UCSC)C1R
Gene fusions - Rearrangements
Tumor Fusion PortalC1R
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1R
dbVarC1R
ClinVarC1R
1000_GenomesC1R 
Exome Variant ServerC1R
ExAC (Exome Aggregation Consortium)ENSG00000159403
GNOMAD BrowserENSG00000159403
Genetic variants : HAPMAP715
Genomic Variants (DGV)C1R [DGVbeta]
DECIPHERC1R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC1R 
Mutations
ICGC Data PortalC1R 
TCGA Data PortalC1R 
Broad Tumor PortalC1R
OASIS PortalC1R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1R  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1R
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch C1R
DgiDB (Drug Gene Interaction Database)C1R
DoCM (Curated mutations)C1R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1R (select a term)
intoGenC1R
Cancer3DC1R(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130080    216950    613785   
Orphanet17827   
DisGeNETC1R
MedgenC1R
Genetic Testing Registry C1R
NextProtP00736 [Medical]
TSGene715
GENETestsC1R
Target ValidationC1R
Huge Navigator C1R [HugePedia]
snp3D : Map Gene to Disease715
BioCentury BCIQC1R
ClinGenC1R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD715
Chemical/Pharm GKB GenePA25635
Clinical trialC1R
Miscellaneous
canSAR (ICR)C1R (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1R
EVEXC1R
GoPubMedC1R
iHOPC1R
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 : Tue Nov 21 14:05:27 CET 2017

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