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C1QA (complement C1q A chain)

Identity

Alias_namescomplement component 1, q subcomponent, alpha polypeptide
complement component 1, q subcomponent, A chain
complement C1q chain A
Other alias-
HGNC (Hugo) C1QA
LocusID (NCBI) 712
Atlas_Id 872
Location 1p36.12  [Link to chromosome band 1p36]
Location_base_pair Starts at 22636506 and ends at 22639682 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C1QA (1p36.12) / C1QA (1p36.12)C1QA (1p36.12) / C1QC (1p36.12)TNFRSF14 (1p36.32) / C1QA (1p36.12)

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)C1QA   1241
LRG (Locus Reference Genomic)LRG_22
Cards
Entrez_Gene (NCBI)C1QA  712  complement C1q A chain
Aliases
GeneCards (Weizmann)C1QA
Ensembl hg19 (Hinxton)ENSG00000173372 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173372 [Gene_View]  chr1:22636506-22639682 [Contig_View]  C1QA [Vega]
ICGC DataPortalENSG00000173372
TCGA cBioPortalC1QA
AceView (NCBI)C1QA
Genatlas (Paris)C1QA
WikiGenes712
SOURCE (Princeton)C1QA
Genetics Home Reference (NIH)C1QA
Genomic and cartography
GoldenPath hg38 (UCSC)C1QA  -     chr1:22636506-22639682 +  1p36.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C1QA  -     1p36.12   [Description]    (hg19-Feb_2009)
EnsemblC1QA - 1p36.12 [CytoView hg19]  C1QA - 1p36.12 [CytoView hg38]
Mapping of homologs : NCBIC1QA [Mapview hg19]  C1QA [Mapview hg38]
OMIM120550   613652   
Gene and transcription
Genbank (Entrez)AA985480 AF135157 AF260332 AK311980 BC030153
RefSeq transcript (Entrez)NM_001347465 NM_001347466 NM_015991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C1QA
Cluster EST : UnigeneHs.632379 [ NCBI ]
CGAP (NCI)Hs.632379
Alternative Splicing GalleryENSG00000173372
Gene ExpressionC1QA [ NCBI-GEO ]   C1QA [ EBI - ARRAY_EXPRESS ]   C1QA [ SEEK ]   C1QA [ MEM ]
Gene Expression Viewer (FireBrowse)C1QA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)712
GTEX Portal (Tissue expression)C1QA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02745   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02745  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02745
Splice isoforms : SwissVarP02745
PhosPhoSitePlusP02745
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)C1QA
DMDM Disease mutations712
Blocks (Seattle)C1QA
PDB (SRS)1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
PDB (PDBSum)1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
PDB (IMB)1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
PDB (RSDB)1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
Structural Biology KnowledgeBase1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
SCOP (Structural Classification of Proteins)1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
CATH (Classification of proteins structures)1PK6    2JG8    2JG9    2WNU    2WNV    5HKJ    5HZF   
SuperfamilyP02745
Human Protein AtlasENSG00000173372
Peptide AtlasP02745
HPRD00393
IPIIPI00022392   IPI00385863   IPI00844400   
Protein Interaction databases
DIP (DOE-UCLA)P02745
IntAct (EBI)P02745
FunCoupENSG00000173372
BioGRIDC1QA
STRING (EMBL)C1QA
ZODIACC1QA
Ontologies - Pathways
QuickGOP02745
Ontology : AmiGOserine-type endopeptidase activity  protein binding  extracellular region  collagen trimer  complement component C1 complex  proteolysis  complement activation  complement activation, classical pathway  cell-cell signaling  response to iron ion  innate immune response  extracellular exosome  
Ontology : EGO-EBIserine-type endopeptidase activity  protein binding  extracellular region  collagen trimer  complement component C1 complex  proteolysis  complement activation  complement activation, classical pathway  cell-cell signaling  response to iron ion  innate immune response  extracellular exosome  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Pertussis    Chagas disease (American trypanosomiasis)    Staphylococcus aureus infection    Systemic lupus erythematosus   
NDEx NetworkC1QA
Atlas of Cancer Signalling NetworkC1QA
Wikipedia pathwaysC1QA
Orthology - Evolution
OrthoDB712
GeneTree (enSembl)ENSG00000173372
Phylogenetic Trees/Animal Genes : TreeFamC1QA
HOVERGENP02745
HOGENOMP02745
Homologs : HomoloGeneC1QA
Homology/Alignments : Family Browser (UCSC)C1QA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1QA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1QA
dbVarC1QA
ClinVarC1QA
1000_GenomesC1QA 
Exome Variant ServerC1QA
ExAC (Exome Aggregation Consortium)C1QA (select the gene name)
Genetic variants : HAPMAP712
Genomic Variants (DGV)C1QA [DGVbeta]
DECIPHERC1QA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC1QA 
Mutations
ICGC Data PortalC1QA 
TCGA Data PortalC1QA 
Broad Tumor PortalC1QA
OASIS PortalC1QA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1QA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1QA
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 C1QA
DgiDB (Drug Gene Interaction Database)C1QA
DoCM (Curated mutations)C1QA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1QA (select a term)
intoGenC1QA
Cancer3DC1QA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120550    613652   
Orphanet17827   
MedgenC1QA
Genetic Testing Registry C1QA
NextProtP02745 [Medical]
TSGene712
GENETestsC1QA
Target ValidationC1QA
Huge Navigator C1QA [HugePedia]
snp3D : Map Gene to Disease712
BioCentury BCIQC1QA
ClinGenC1QA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD712
Chemical/Pharm GKB GenePA25622
Clinical trialC1QA
Miscellaneous
canSAR (ICR)C1QA (select the gene name)
Probes
Litterature
PubMed134 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1QA
EVEXC1QA
GoPubMedC1QA
iHOPC1QA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:59:51 CEST 2017

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