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C8A (complement C8 alpha chain)

Identity

Alias_namescomplement component 8, alpha polypeptide
complement component 8 alpha subunit
Other alias-
HGNC (Hugo) C8A
LocusID (NCBI) 731
Atlas_Id 61277
Location 1p32.2  [Link to chromosome band 1p32]
Location_base_pair Starts at 56854770 and ends at 56918221 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NAV2 (11p15.1) / C8A (1p32.2)RNF11 (1p32.3) / C8A (1p32.2)

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)C8A   1352
LRG (Locus Reference Genomic)LRG_139
Cards
Entrez_Gene (NCBI)C8A  731  complement C8 alpha chain
Aliases
GeneCards (Weizmann)C8A
Ensembl hg19 (Hinxton)ENSG00000157131 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157131 [Gene_View]  chr1:56854770-56918221 [Contig_View]  C8A [Vega]
ICGC DataPortalENSG00000157131
TCGA cBioPortalC8A
AceView (NCBI)C8A
Genatlas (Paris)C8A
WikiGenes731
SOURCE (Princeton)C8A
Genetics Home Reference (NIH)C8A
Genomic and cartography
GoldenPath hg38 (UCSC)C8A  -     chr1:56854770-56918221 +  1p32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C8A  -     1p32.2   [Description]    (hg19-Feb_2009)
EnsemblC8A - 1p32.2 [CytoView hg19]  C8A - 1p32.2 [CytoView hg38]
Mapping of homologs : NCBIC8A [Mapview hg19]  C8A [Mapview hg38]
OMIM120950   613790   
Gene and transcription
Genbank (Entrez)AK309596 BC020702 BC132911 BC132913 HQ258328
RefSeq transcript (Entrez)NM_000562
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C8A
Cluster EST : UnigeneHs.93210 [ NCBI ]
CGAP (NCI)Hs.93210
Alternative Splicing GalleryENSG00000157131
Gene ExpressionC8A [ NCBI-GEO ]   C8A [ EBI - ARRAY_EXPRESS ]   C8A [ SEEK ]   C8A [ MEM ]
Gene Expression Viewer (FireBrowse)C8A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)731
GTEX Portal (Tissue expression)C8A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07357   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07357  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07357
Splice isoforms : SwissVarP07357
PhosPhoSitePlusP07357
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    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)C8A
DMDM Disease mutations731
Blocks (Seattle)C8A
PDB (SRS)2QOS    2QQH    2RD7    3OJY   
PDB (PDBSum)2QOS    2QQH    2RD7    3OJY   
PDB (IMB)2QOS    2QQH    2RD7    3OJY   
PDB (RSDB)2QOS    2QQH    2RD7    3OJY   
Structural Biology KnowledgeBase2QOS    2QQH    2RD7    3OJY   
SCOP (Structural Classification of Proteins)2QOS    2QQH    2RD7    3OJY   
CATH (Classification of proteins structures)2QOS    2QQH    2RD7    3OJY   
SuperfamilyP07357
Human Protein AtlasENSG00000157131
Peptide AtlasP07357
HPRD00409
IPIIPI00011252   
Protein Interaction databases
DIP (DOE-UCLA)P07357
IntAct (EBI)P07357
FunCoupENSG00000157131
BioGRIDC8A
STRING (EMBL)C8A
ZODIACC8A
Ontologies - Pathways
QuickGOP07357
Ontology : AmiGOcomplement binding  extracellular region  membrane attack complex  extracellular space  immune response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  membrane  cytolysis  regulation of complement activation  protein complex binding  extracellular exosome  blood microparticle  
Ontology : EGO-EBIcomplement binding  extracellular region  membrane attack complex  extracellular space  immune response  complement activation  complement activation, alternative pathway  complement activation, classical pathway  membrane  cytolysis  regulation of complement activation  protein complex binding  extracellular exosome  blood microparticle  
Pathways : BIOCARTALectin Induced Complement Pathway [Genes]    Alternative Complement Pathway [Genes]    Classical Complement Pathway [Genes]    Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Prion diseases    Amoebiasis    Systemic lupus erythematosus   
NDEx NetworkC8A
Atlas of Cancer Signalling NetworkC8A
Wikipedia pathwaysC8A
Orthology - Evolution
OrthoDB731
GeneTree (enSembl)ENSG00000157131
Phylogenetic Trees/Animal Genes : TreeFamC8A
HOVERGENP07357
HOGENOMP07357
Homologs : HomoloGeneC8A
Homology/Alignments : Family Browser (UCSC)C8A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C8A
dbVarC8A
ClinVarC8A
1000_GenomesC8A 
Exome Variant ServerC8A
ExAC (Exome Aggregation Consortium)C8A (select the gene name)
Genetic variants : HAPMAP731
Genomic Variants (DGV)C8A [DGVbeta]
DECIPHERC8A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC8A 
Mutations
ICGC Data PortalC8A 
TCGA Data PortalC8A 
Broad Tumor PortalC8A
OASIS PortalC8A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC8A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC8A
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 C8A
DgiDB (Drug Gene Interaction Database)C8A
DoCM (Curated mutations)C8A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C8A (select a term)
intoGenC8A
Cancer3DC8A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120950    613790   
Orphanet17828   
MedgenC8A
Genetic Testing Registry C8A
NextProtP07357 [Medical]
TSGene731
GENETestsC8A
Target ValidationC8A
Huge Navigator C8A [HugePedia]
snp3D : Map Gene to Disease731
BioCentury BCIQC8A
ClinGenC8A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD731
Chemical/Pharm GKB GenePA25951
Clinical trialC8A
Miscellaneous
canSAR (ICR)C8A (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC8A
EVEXC8A
GoPubMedC8A
iHOPC8A
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 13:03:33 CEST 2017

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