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C7 (complement component 7)

Identity

Alias_namescomplement component 7
Other alias-
HGNC (Hugo) C7
LocusID (NCBI) 730
Atlas_Id 893
Location 5p13.1  [Link to chromosome band 5p13]
Location_base_pair Starts at 40909599 and ends at 40983042 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C7 (5p13.1) / DEFA6 (8p23.1)DCPS (11q24.2) / C7 (5p13.1)

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)C7   1346
LRG (Locus Reference Genomic)LRG_30
Cards
Entrez_Gene (NCBI)C7  730  complement component 7
Aliases
GeneCards (Weizmann)C7
Ensembl hg19 (Hinxton)ENSG00000112936 [Gene_View]  chr5:40909599-40983042 [Contig_View]  C7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000112936 [Gene_View]  chr5:40909599-40983042 [Contig_View]  C7 [Vega]
ICGC DataPortalENSG00000112936
TCGA cBioPortalC7
AceView (NCBI)C7
Genatlas (Paris)C7
WikiGenes730
SOURCE (Princeton)C7
Genetics Home Reference (NIH)C7
Genomic and cartography
GoldenPath hg19 (UCSC)C7  -     chr5:40909599-40983042 +  5p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C7  -     5p13.1   [Description]    (hg38-Dec_2013)
EnsemblC7 - 5p13.1 [CytoView hg19]  C7 - 5p13.1 [CytoView hg38]
Mapping of homologs : NCBIC7 [Mapview hg19]  C7 [Mapview hg38]
OMIM217070   610102   
Gene and transcription
Genbank (Entrez)AK290349 AK304848 AK312737 BC025402 BC041807
RefSeq transcript (Entrez)NM_000587
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011692 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)C7
Cluster EST : UnigeneHs.78065 [ NCBI ]
CGAP (NCI)Hs.78065
Alternative Splicing GalleryENSG00000112936
Gene ExpressionC7 [ NCBI-GEO ]   C7 [ EBI - ARRAY_EXPRESS ]   C7 [ SEEK ]   C7 [ MEM ]
Gene Expression Viewer (FireBrowse)C7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)730
GTEX Portal (Tissue expression)C7
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10643   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10643  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10643
Splice isoforms : SwissVarP10643
PhosPhoSitePlusP10643
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    MACPF_1 (PS00279)    MACPF_2 (PS51412)    SUSHI (PS50923)    TSP1 (PS50092)   
Domains : Interpro (EBI)FacI_MAC    LDLR_class-A_CS    LDrepeatLR_classA_rpt    MAC_perforin    MACPF    MACPF_CS    Sushi_SCR_CCP_dom    TSP1_rpt   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    MACPF (PF01823)    Sushi (PF00084)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam00057    pfam01823    pfam00084    pfam00090   
Domain families : Smart (EMBL)CCP (SM00032)  FIMAC (SM00057)  LDLa (SM00192)  MACPF (SM00457)  TSP1 (SM00209)  
Conserved Domain (NCBI)C7
DMDM Disease mutations730
Blocks (Seattle)C7
PDB (SRS)2WCY   
PDB (PDBSum)2WCY   
PDB (IMB)2WCY   
PDB (RSDB)2WCY   
Structural Biology KnowledgeBase2WCY   
SCOP (Structural Classification of Proteins)2WCY   
CATH (Classification of proteins structures)2WCY   
SuperfamilyP10643
Human Protein AtlasENSG00000112936
Peptide AtlasP10643
HPRD01957
IPIIPI00296608   IPI00909594   IPI00967481   
Protein Interaction databases
DIP (DOE-UCLA)P10643
IntAct (EBI)P10643
FunCoupENSG00000112936
BioGRIDC7
STRING (EMBL)C7
ZODIACC7
Ontologies - Pathways
QuickGOP10643
Ontology : AmiGOextracellular region  membrane attack complex  complement activation  complement activation, alternative pathway  complement activation, classical pathway  cytolysis  regulation of complement activation  extracellular exosome  
Ontology : EGO-EBIextracellular region  membrane attack complex  complement activation  complement activation, alternative pathway  complement activation, classical pathway  cytolysis  regulation of complement activation  extracellular exosome  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Complement Pathway [Genes]    Alternative Complement Pathway [Genes]    Lectin Induced Complement Pathway [Genes]    Cells and Molecules involved in local acute inflammatory response [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Systemic lupus erythematosus   
NDEx NetworkC7
Atlas of Cancer Signalling NetworkC7
Wikipedia pathwaysC7
Orthology - Evolution
OrthoDB730
GeneTree (enSembl)ENSG00000112936
Phylogenetic Trees/Animal Genes : TreeFamC7
HOVERGENP10643
HOGENOMP10643
Homologs : HomoloGeneC7
Homology/Alignments : Family Browser (UCSC)C7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C7
dbVarC7
ClinVarC7
1000_GenomesC7 
Exome Variant ServerC7
ExAC (Exome Aggregation Consortium)C7 (select the gene name)
Genetic variants : HAPMAP730
Genomic Variants (DGV)C7 [DGVbeta]
DECIPHER (Syndromes)5:40909599-40983042  ENSG00000112936
CONAN: Copy Number AnalysisC7 
Mutations
ICGC Data PortalC7 
TCGA Data PortalC7 
Broad Tumor PortalC7
OASIS PortalC7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC7
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 C7
DgiDB (Drug Gene Interaction Database)C7
DoCM (Curated mutations)C7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C7 (select a term)
intoGenC7
Cancer3DC7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM217070    610102   
Orphanet17828   
MedgenC7
Genetic Testing Registry C7
NextProtP10643 [Medical]
TSGene730
GENETestsC7
Huge Navigator C7 [HugePedia]
snp3D : Map Gene to Disease730
BioCentury BCIQC7
ClinGenC7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD730
Chemical/Pharm GKB GenePA25941
Clinical trialC7
Miscellaneous
canSAR (ICR)C7 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC7
EVEXC7
GoPubMedC7
iHOPC7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:54:41 CEST 2017

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