Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C6 (complement component 6)

Identity

Alias_namescomplement component 6
Other alias-
HGNC (Hugo) C6
LocusID (NCBI) 729
Atlas_Id 61230
Location 5p13.1  [Link to chromosome band 5p13]
Location_base_pair Starts at 41142248 and ends at 41213695 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C6 (5p13.1) / HUWE1 (Xp11.22)C6 (5p13.1) / MRPL14 (6p21.1)

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)C6   1339
LRG (Locus Reference Genomic)LRG_29
Cards
Entrez_Gene (NCBI)C6  729  complement component 6
Aliases
GeneCards (Weizmann)C6
Ensembl hg19 (Hinxton)ENSG00000039537 [Gene_View]  chr5:41142248-41213695 [Contig_View]  C6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000039537 [Gene_View]  chr5:41142248-41213695 [Contig_View]  C6 [Vega]
ICGC DataPortalENSG00000039537
TCGA cBioPortalC6
AceView (NCBI)C6
Genatlas (Paris)C6
WikiGenes729
SOURCE (Princeton)C6
Genetics Home Reference (NIH)C6
Genomic and cartography
GoldenPath hg19 (UCSC)C6  -     chr5:41142248-41213695 -  5p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C6  -     5p13.1   [Description]    (hg38-Dec_2013)
EnsemblC6 - 5p13.1 [CytoView hg19]  C6 - 5p13.1 [CytoView hg38]
Mapping of homologs : NCBIC6 [Mapview hg19]  C6 [Mapview hg38]
OMIM217050   612446   
Gene and transcription
Genbank (Entrez)AB126592 AK292509 AK313673 BC035723 BJ993387
RefSeq transcript (Entrez)NM_000065 NM_001115131
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011582 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)C6
Cluster EST : UnigeneHs.481992 [ NCBI ]
CGAP (NCI)Hs.481992
Alternative Splicing GalleryENSG00000039537
Gene ExpressionC6 [ NCBI-GEO ]   C6 [ EBI - ARRAY_EXPRESS ]   C6 [ SEEK ]   C6 [ MEM ]
Gene Expression Viewer (FireBrowse)C6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)729
GTEX Portal (Tissue expression)C6
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13671   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13671  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13671
Splice isoforms : SwissVarP13671
PhosPhoSitePlusP13671
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    KAZAL_2 (PS51465)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    MACPF_1 (PS00279)    MACPF_2 (PS51412)    SUSHI (PS50923)    TSP1 (PS50092)   
Domains : Interpro (EBI)FacI_MAC    Kazal_dom    LDLR_class-A_CS    LDrepeatLR_classA_rpt    MAC_perforin    MACPF    MACPF_CS    Sushi_SCR_CCP_dom    Thrombospondin_1_rpt   
Domain families : Pfam (Sanger)Kazal_2 (PF07648)    Ldl_recept_a (PF00057)    MACPF (PF01823)    Sushi (PF00084)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam07648    pfam00057    pfam01823    pfam00084    pfam00090   
Domain families : Smart (EMBL)CCP (SM00032)  FIMAC (SM00057)  KAZAL (SM00280)  LDLa (SM00192)  MACPF (SM00457)  TSP1 (SM00209)  
Conserved Domain (NCBI)C6
DMDM Disease mutations729
Blocks (Seattle)C6
PDB (SRS)3T5O    4A5W    4E0S   
PDB (PDBSum)3T5O    4A5W    4E0S   
PDB (IMB)3T5O    4A5W    4E0S   
PDB (RSDB)3T5O    4A5W    4E0S   
Structural Biology KnowledgeBase3T5O    4A5W    4E0S   
SCOP (Structural Classification of Proteins)3T5O    4A5W    4E0S   
CATH (Classification of proteins structures)3T5O    4A5W    4E0S   
SuperfamilyP13671
Human Protein AtlasENSG00000039537
Peptide AtlasP13671
HPRD01956
IPIIPI00879709   IPI00896479   IPI00879915   
Protein Interaction databases
DIP (DOE-UCLA)P13671
IntAct (EBI)P13671
FunCoupENSG00000039537
BioGRIDC6
STRING (EMBL)C6
ZODIACC6
Ontologies - Pathways
QuickGOP13671
Ontology : AmiGOin utero embryonic development  positive regulation of activation of membrane attack complex  protein binding  extracellular region  membrane attack complex  complement activation  complement activation, classical pathway  cytolysis  regulation of complement activation  innate immune response  positive regulation of angiogenesis  extracellular exosome  
Ontology : EGO-EBIin utero embryonic development  positive regulation of activation of membrane attack complex  protein binding  extracellular region  membrane attack complex  complement activation  complement activation, classical pathway  cytolysis  regulation of complement activation  innate immune response  positive regulation of angiogenesis  extracellular exosome  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Complement Pathway [Genes]    Cells and Molecules involved in local acute inflammatory response [Genes]    Alternative Complement Pathway [Genes]    Lectin Induced Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Systemic lupus erythematosus   
NDEx NetworkC6
Atlas of Cancer Signalling NetworkC6
Wikipedia pathwaysC6
Orthology - Evolution
OrthoDB729
GeneTree (enSembl)ENSG00000039537
Phylogenetic Trees/Animal Genes : TreeFamC6
HOVERGENP13671
HOGENOMP13671
Homologs : HomoloGeneC6
Homology/Alignments : Family Browser (UCSC)C6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C6
dbVarC6
ClinVarC6
1000_GenomesC6 
Exome Variant ServerC6
ExAC (Exome Aggregation Consortium)C6 (select the gene name)
Genetic variants : HAPMAP729
Genomic Variants (DGV)C6 [DGVbeta]
DECIPHER (Syndromes)5:41142248-41213695  ENSG00000039537
CONAN: Copy Number AnalysisC6 
Mutations
ICGC Data PortalC6 
TCGA Data PortalC6 
Broad Tumor PortalC6
OASIS PortalC6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC6
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 C6
DgiDB (Drug Gene Interaction Database)C6
DoCM (Curated mutations)C6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C6 (select a term)
intoGenC6
Cancer3DC6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM217050    612446   
Orphanet17828   
MedgenC6
Genetic Testing Registry C6
NextProtP13671 [Medical]
TSGene729
GENETestsC6
Huge Navigator C6 [HugePedia]
snp3D : Map Gene to Disease729
BioCentury BCIQC6
ClinGenC6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD729
Chemical/Pharm GKB GenePA25921
Clinical trialC6
Miscellaneous
canSAR (ICR)C6 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC6
EVEXC6
GoPubMedC6
iHOPC6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:57:30 CET 2017

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