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C1S (complement C1s)

Identity

Alias_namescomplement component 1, s subcomponent
Other aliasEDSPD2
HGNC (Hugo) C1S
LocusID (NCBI) 716
Atlas_Id 61106
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 7060661 and ends at 7071031 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADAMTS1 (21q21.3) / C1S (12p13.31)C1S (12p13.31) / C1S (12p13.31)C1S (12p13.31) / CYFIP2 (5q33.3)
C1S (12p13.31) / SPARC (5q33.1)ENTPD2 (9q34.3) / C1S (12p13.31)PCGF1 (2p13.1) / C1S (12p13.31)
PRB2 (12p13.2) / C1S (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)C1S   1247
LRG (Locus Reference Genomic)LRG_25
Cards
Entrez_Gene (NCBI)C1S  716  complement C1s
AliasesEDSPD2
GeneCards (Weizmann)C1S
Ensembl hg19 (Hinxton)ENSG00000182326 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182326 [Gene_View]  chr12:7060661-7071031 [Contig_View]  C1S [Vega]
ICGC DataPortalENSG00000182326
TCGA cBioPortalC1S
AceView (NCBI)C1S
Genatlas (Paris)C1S
WikiGenes716
SOURCE (Princeton)C1S
Genetics Home Reference (NIH)C1S
Genomic and cartography
GoldenPath hg38 (UCSC)C1S  -     chr12:7060661-7071031 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C1S  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblC1S - 12p13.31 [CytoView hg19]  C1S - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIC1S [Mapview hg19]  C1S [Mapview hg38]
OMIM120580   613783   617174   
Gene and transcription
Genbank (Entrez)AK025309 AK126711 AK290295 AM886411 AU100335
RefSeq transcript (Entrez)NM_001346850 NM_001734 NM_201442
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C1S
Cluster EST : UnigeneHs.458355 [ NCBI ]
CGAP (NCI)Hs.458355
Alternative Splicing GalleryENSG00000182326
Gene ExpressionC1S [ NCBI-GEO ]   C1S [ EBI - ARRAY_EXPRESS ]   C1S [ SEEK ]   C1S [ MEM ]
Gene Expression Viewer (FireBrowse)C1S [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)716
GTEX Portal (Tissue expression)C1S
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09871   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09871  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09871
Splice isoforms : SwissVarP09871
Catalytic activity : Enzyme3.4.21.42 [ Enzyme-Expasy ]   3.4.21.423.4.21.42 [ IntEnz-EBI ]   3.4.21.42 [ BRENDA ]   3.4.21.42 [ KEGG ]   
PhosPhoSitePlusP09871
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CUB (PS01180)    EGF_CA (PS01187)    SUSHI (PS50923)    TRYPSIN_DOM (PS50240)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)CUB_dom    EGF-like_Ca-bd_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_CA (SM00179)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)C1S
DMDM Disease mutations716
Blocks (Seattle)C1S
PDB (SRS)1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
PDB (PDBSum)1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
PDB (IMB)1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
PDB (RSDB)1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
Structural Biology KnowledgeBase1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
SCOP (Structural Classification of Proteins)1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
CATH (Classification of proteins structures)1ELV    1NZI    4J1Y    4LMF    4LOR    4LOS    4LOT   
SuperfamilyP09871
Human Protein AtlasENSG00000182326
Peptide AtlasP09871
HPRD00397
IPIIPI00017696   IPI00749179   IPI00877989   IPI00878865   IPI00878716   IPI00878772   IPI00385294   IPI01010642   
Protein Interaction databases
DIP (DOE-UCLA)P09871
IntAct (EBI)P09871
FunCoupENSG00000182326
BioGRIDC1S
STRING (EMBL)C1S
ZODIACC1S
Ontologies - Pathways
QuickGOP09871
Ontology : AmiGOcomplement activation, lectin pathway  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  proteolysis  complement activation  complement activation, classical pathway  identical protein binding  extracellular exosome  blood microparticle  
Ontology : EGO-EBIcomplement activation, lectin pathway  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  proteolysis  complement activation  complement activation, classical pathway  identical protein binding  extracellular exosome  blood microparticle  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Pertussis    Staphylococcus aureus infection    Systemic lupus erythematosus   
NDEx NetworkC1S
Atlas of Cancer Signalling NetworkC1S
Wikipedia pathwaysC1S
Orthology - Evolution
OrthoDB716
GeneTree (enSembl)ENSG00000182326
Phylogenetic Trees/Animal Genes : TreeFamC1S
HOVERGENP09871
HOGENOMP09871
Homologs : HomoloGeneC1S
Homology/Alignments : Family Browser (UCSC)C1S
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1S [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1S
dbVarC1S
ClinVarC1S
1000_GenomesC1S 
Exome Variant ServerC1S
ExAC (Exome Aggregation Consortium)C1S (select the gene name)
Genetic variants : HAPMAP716
Genomic Variants (DGV)C1S [DGVbeta]
DECIPHERC1S [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC1S 
Mutations
ICGC Data PortalC1S 
TCGA Data PortalC1S 
Broad Tumor PortalC1S
OASIS PortalC1S [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1S  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1S
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 C1S
DgiDB (Drug Gene Interaction Database)C1S
DoCM (Curated mutations)C1S (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1S (select a term)
intoGenC1S
Cancer3DC1S(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120580    613783    617174   
Orphanet17827   
MedgenC1S
Genetic Testing Registry C1S
NextProtP09871 [Medical]
TSGene716
GENETestsC1S
Target ValidationC1S
Huge Navigator C1S [HugePedia]
snp3D : Map Gene to Disease716
BioCentury BCIQC1S
ClinGenC1S
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD716
Chemical/Pharm GKB GenePA25636
Clinical trialC1S
Miscellaneous
canSAR (ICR)C1S (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1S
EVEXC1S
GoPubMedC1S
iHOPC1S
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 : Wed Jun 7 15:40:58 CEST 2017

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