Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C1QC (complement component 1, q subcomponent, C chain)

Identity

Alias_namesC1QG
complement component 1, q subcomponent, gamma polypeptide
complement component 1, q subcomponent, C chain
Other aliasC1Q-C
HGNC (Hugo) C1QC
LocusID (NCBI) 714
Atlas_Id 52054
Location 1p36.12  [Link to chromosome band 1p36]
Location_base_pair Starts at 22970118 and ends at 22974603 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C1QA (1p36.12) / C1QC (1p36.12)C1QC (1p36.12) / ARID1A (1p36.11)C1QC (1p36.12) / C1QC (1p36.12)
C1QC (1p36.12) / MYO1F (19p13.2)C1QC 1p36.12 / ARID1A 1p36.11

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)C1QC   1245
LRG (Locus Reference Genomic)LRG_24
Cards
Entrez_Gene (NCBI)C1QC  714  complement component 1, q subcomponent, C chain
AliasesC1Q-C; C1QG
GeneCards (Weizmann)C1QC
Ensembl hg19 (Hinxton)ENSG00000159189 [Gene_View]  chr1:22970118-22974603 [Contig_View]  C1QC [Vega]
Ensembl hg38 (Hinxton)ENSG00000159189 [Gene_View]  chr1:22970118-22974603 [Contig_View]  C1QC [Vega]
ICGC DataPortalENSG00000159189
TCGA cBioPortalC1QC
AceView (NCBI)C1QC
Genatlas (Paris)C1QC
WikiGenes714
SOURCE (Princeton)C1QC
Genetics Home Reference (NIH)C1QC
Genomic and cartography
GoldenPath hg19 (UCSC)C1QC  -     chr1:22970118-22974603 +  1p36.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C1QC  -     1p36.12   [Description]    (hg38-Dec_2013)
EnsemblC1QC - 1p36.12 [CytoView hg19]  C1QC - 1p36.12 [CytoView hg38]
Mapping of homologs : NCBIC1QC [Mapview hg19]  C1QC [Mapview hg38]
OMIM120575   613652   
Gene and transcription
Genbank (Entrez)AF087892 AK057792 AK130613 AK226152 AM392881
RefSeq transcript (Entrez)NM_001114101 NM_172369
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_007565 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)C1QC
Cluster EST : UnigeneHs.467753 [ NCBI ]
CGAP (NCI)Hs.467753
Alternative Splicing GalleryENSG00000159189
Gene ExpressionC1QC [ NCBI-GEO ]   C1QC [ EBI - ARRAY_EXPRESS ]   C1QC [ SEEK ]   C1QC [ MEM ]
Gene Expression Viewer (FireBrowse)C1QC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)714
GTEX Portal (Tissue expression)C1QC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02747   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02747  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02747
Splice isoforms : SwissVarP02747
PhosPhoSitePlusP02747
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)   
Domains : Interpro (EBI)C1q_dom    Collagen    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam00386    pfam01391   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)C1QC
DMDM Disease mutations714
Blocks (Seattle)C1QC
PDB (SRS)1PK6    2JG8    2JG9    2WNU    2WNV   
PDB (PDBSum)1PK6    2JG8    2JG9    2WNU    2WNV   
PDB (IMB)1PK6    2JG8    2JG9    2WNU    2WNV   
PDB (RSDB)1PK6    2JG8    2JG9    2WNU    2WNV   
Structural Biology KnowledgeBase1PK6    2JG8    2JG9    2WNU    2WNV   
SCOP (Structural Classification of Proteins)1PK6    2JG8    2JG9    2WNU    2WNV   
CATH (Classification of proteins structures)1PK6    2JG8    2JG9    2WNU    2WNV   
SuperfamilyP02747
Human Protein AtlasENSG00000159189
Peptide AtlasP02747
HPRD00395
IPIIPI00022394   
Protein Interaction databases
DIP (DOE-UCLA)P02747
IntAct (EBI)P02747
FunCoupENSG00000159189
BioGRIDC1QC
STRING (EMBL)C1QC
ZODIACC1QC
Ontologies - Pathways
QuickGOP02747
Ontology : AmiGOserine-type endopeptidase activity  extracellular region  extracellular region  collagen trimer  extracellular space  proteolysis  immune response  complement activation  complement activation, classical pathway  negative regulation of granulocyte differentiation  innate immune response  negative regulation of macrophage differentiation  extracellular exosome  blood microparticle  
Ontology : EGO-EBIserine-type endopeptidase activity  extracellular region  extracellular region  collagen trimer  extracellular space  proteolysis  immune response  complement activation  complement activation, classical pathway  negative regulation of granulocyte differentiation  innate immune response  negative regulation of macrophage differentiation  extracellular exosome  blood microparticle  
Pathways : BIOCARTAComplement Pathway [Genes]    Classical Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Pertussis    Chagas disease (American trypanosomiasis)    Staphylococcus aureus infection    Systemic lupus erythematosus   
NDEx NetworkC1QC
Atlas of Cancer Signalling NetworkC1QC
Wikipedia pathwaysC1QC
Orthology - Evolution
OrthoDB714
GeneTree (enSembl)ENSG00000159189
Phylogenetic Trees/Animal Genes : TreeFamC1QC
HOVERGENP02747
HOGENOMP02747
Homologs : HomoloGeneC1QC
Homology/Alignments : Family Browser (UCSC)C1QC
Gene fusions - Rearrangements
Fusion : MitelmanC1QC/ARID1A [1p36.12/1p36.11]  
Fusion: TCGAC1QC 1p36.12 ARID1A 1p36.11 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1QC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1QC
dbVarC1QC
ClinVarC1QC
1000_GenomesC1QC 
Exome Variant ServerC1QC
ExAC (Exome Aggregation Consortium)C1QC (select the gene name)
Genetic variants : HAPMAP714
Genomic Variants (DGV)C1QC [DGVbeta]
DECIPHER (Syndromes)1:22970118-22974603  ENSG00000159189
CONAN: Copy Number AnalysisC1QC 
Mutations
ICGC Data PortalC1QC 
TCGA Data PortalC1QC 
Broad Tumor PortalC1QC
OASIS PortalC1QC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1QC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1QC
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 C1QC
DgiDB (Drug Gene Interaction Database)C1QC
DoCM (Curated mutations)C1QC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1QC (select a term)
intoGenC1QC
Cancer3DC1QC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120575    613652   
Orphanet17827   
MedgenC1QC
Genetic Testing Registry C1QC
NextProtP02747 [Medical]
TSGene714
GENETestsC1QC
Huge Navigator C1QC [HugePedia]
snp3D : Map Gene to Disease714
BioCentury BCIQC1QC
ClinGenC1QC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD714
Chemical/Pharm GKB GenePA25626
Clinical trialC1QC
Miscellaneous
canSAR (ICR)C1QC (select the gene name)
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1QC
EVEXC1QC
GoPubMedC1QC
iHOPC1QC
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 Mar 14 12:58:07 CET 2017

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