Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C9 (complement C9)

Identity

Alias_namescomplement component 9
Other aliasARMD15
C9D
HGNC (Hugo) C9
LocusID (NCBI) 735
Atlas_Id 51369
Location 5p13.1  [Link to chromosome band 5p13]
Location_base_pair Starts at 39284145 and ends at 39364560 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C9 (5p13.1) / TEAD1 (11p15.3)FAM157A (3q29) / C9 (5p13.1)LIFR (5p13.1) / C9 (5p13.1)
FAM157A 3q29 / C9 5p13.1LIFR 5p13.1 / C9 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)C9   1358
LRG (Locus Reference Genomic)LRG_32
Cards
Entrez_Gene (NCBI)C9  735  complement C9
AliasesARMD15; C9D
GeneCards (Weizmann)C9
Ensembl hg19 (Hinxton)ENSG00000113600 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113600 [Gene_View]  chr5:39284145-39364560 [Contig_View]  C9 [Vega]
ICGC DataPortalENSG00000113600
TCGA cBioPortalC9
AceView (NCBI)C9
Genatlas (Paris)C9
WikiGenes735
SOURCE (Princeton)C9
Genetics Home Reference (NIH)C9
Genomic and cartography
GoldenPath hg38 (UCSC)C9  -     chr5:39284145-39364560 -  5p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C9  -     5p13.1   [Description]    (hg19-Feb_2009)
EnsemblC9 - 5p13.1 [CytoView hg19]  C9 - 5p13.1 [CytoView hg38]
Mapping of homologs : NCBIC9 [Mapview hg19]  C9 [Mapview hg38]
OMIM120940   613825   615591   
Gene and transcription
Genbank (Entrez)AK308045 AW662752 BC020721 CB135741 CB157001
RefSeq transcript (Entrez)NM_001737
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C9
Cluster EST : UnigeneHs.654443 [ NCBI ]
CGAP (NCI)Hs.654443
Alternative Splicing GalleryENSG00000113600
Gene ExpressionC9 [ NCBI-GEO ]   C9 [ EBI - ARRAY_EXPRESS ]   C9 [ SEEK ]   C9 [ MEM ]
Gene Expression Viewer (FireBrowse)C9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)735
GTEX Portal (Tissue expression)C9
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02748   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02748  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02748
Splice isoforms : SwissVarP02748
PhosPhoSitePlusP02748
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    MACPF_1 (PS00279)    MACPF_2 (PS51412)    TSP1 (PS50092)   
Domains : Interpro (EBI)Growth_fac_rcpt_    LDLR_class-A_CS    LDrepeatLR_classA_rpt    MAC_perforin    MACPF    MACPF_CS    TSP1_rpt   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    MACPF (PF01823)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam00057    pfam01823    pfam00090   
Domain families : Smart (EMBL)LDLa (SM00192)  MACPF (SM00457)  TSP1 (SM00209)  
Conserved Domain (NCBI)C9
DMDM Disease mutations735
Blocks (Seattle)C9
PDB (SRS)5FMW   
PDB (PDBSum)5FMW   
PDB (IMB)5FMW   
PDB (RSDB)5FMW   
Structural Biology KnowledgeBase5FMW   
SCOP (Structural Classification of Proteins)5FMW   
CATH (Classification of proteins structures)5FMW   
SuperfamilyP02748
Human Protein AtlasENSG00000113600
Peptide AtlasP02748
HPRD00408
IPIIPI00022395   
Protein Interaction databases
DIP (DOE-UCLA)P02748
IntAct (EBI)P02748
FunCoupENSG00000113600
BioGRIDC9
STRING (EMBL)C9
ZODIACC9
Ontologies - Pathways
QuickGOP02748
Ontology : AmiGOcell killing  extracellular region  membrane attack complex  extracellular space  cytosol  plasma membrane  integral component of plasma membrane  complement activation, alternative pathway  complement activation, classical pathway  hemolysis by symbiont of host erythrocytes  regulation of complement activation  other organism cell membrane  protein homooligomerization  extracellular exosome  blood microparticle  
Ontology : EGO-EBIcell killing  extracellular region  membrane attack complex  extracellular space  cytosol  plasma membrane  integral component of plasma membrane  complement activation, alternative pathway  complement activation, classical pathway  hemolysis by symbiont of host erythrocytes  regulation of complement activation  other organism cell membrane  protein homooligomerization  extracellular exosome  blood microparticle  
Pathways : BIOCARTAClassical Complement Pathway [Genes]    Alternative Complement Pathway [Genes]    Complement Pathway [Genes]    Lectin Induced Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Amoebiasis    Systemic lupus erythematosus   
NDEx NetworkC9
Atlas of Cancer Signalling NetworkC9
Wikipedia pathwaysC9
Orthology - Evolution
OrthoDB735
GeneTree (enSembl)ENSG00000113600
Phylogenetic Trees/Animal Genes : TreeFamC9
HOVERGENP02748
HOGENOMP02748
Homologs : HomoloGeneC9
Homology/Alignments : Family Browser (UCSC)C9
Gene fusions - Rearrangements
Fusion : MitelmanFAM157A/C9 [3q29/5p13.1]  [t(3;5)(q29;p13)]  
Fusion : MitelmanLIFR/C9 [5p13.1/5p13.1]  [t(5;5)(p13;p13)]  
Fusion: TCGAFAM157A 3q29 C9 5p13.1 BRCA
Fusion: TCGALIFR 5p13.1 C9 5p13.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C9
dbVarC9
ClinVarC9
1000_GenomesC9 
Exome Variant ServerC9
ExAC (Exome Aggregation Consortium)C9 (select the gene name)
Genetic variants : HAPMAP735
Genomic Variants (DGV)C9 [DGVbeta]
DECIPHERC9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC9 
Mutations
ICGC Data PortalC9 
TCGA Data PortalC9 
Broad Tumor PortalC9
OASIS PortalC9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC9
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 C9
DgiDB (Drug Gene Interaction Database)C9
DoCM (Curated mutations)C9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C9 (select a term)
intoGenC9
Cancer3DC9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120940    613825    615591   
Orphanet17828   
MedgenC9
Genetic Testing Registry C9
NextProtP02748 [Medical]
TSGene735
GENETestsC9
Target ValidationC9
Huge Navigator C9 [HugePedia]
snp3D : Map Gene to Disease735
BioCentury BCIQC9
ClinGenC9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD735
Chemical/Pharm GKB GenePA25968
Clinical trialC9
Miscellaneous
canSAR (ICR)C9 (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC9
EVEXC9
GoPubMedC9
iHOPC9
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 18 13:48:30 CEST 2017

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