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| TissGeneSummary for C8A |
 Gene summary |
| Basic gene information | Gene symbol | C8A |
| Gene name | complement component 8, alpha polypeptide | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 1p32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000562.2, | |
| Description | complement component 8 subunit alphacomplement component C8 alpha chain | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 120950 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000157131 | ||
| HPRD : 00409 | ||
| Vega : OTTHUMG00000008306 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C8A | |
| BioGPS: 731 | ||
| Pathway | NCI Pathway Interaction Database: C8A | |
| KEGG: C8A | ||
| REACTOME: C8A | ||
| Pathway Commons: C8A | ||
| Context | iHOP: C8A | |
| ligand binding site mutation search in PubMed: C8A | ||
| UCL Cancer Institute: C8A | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of C8A | ||
| Description by TissGene annotations | TissgsKTS CNV gained TissGeneKTS | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0006956 | complement activation | 12413696 | GO:0006956 | complement activation | 12413696 |
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| TissGeneExp for C8A |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LUSC | -1.599681038 | -0.498677116 | -1.101003922 | 1.37E-08 | 4.25E-08 |
| LIHC | 9.904018962 | 12.33067496 | -2.426656 | 2.10E-09 | 2.14E-08 |
| THCA | -0.569621716 | -1.736564089 | 1.166942373 | 3.33E-07 | 1.35E-06 |
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| TissGene-miRNA for C8A |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for C8A |
| TissGeneSNV for C8A |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.H465Y | SKCM | 4 |
| p.E278K | SKCM | 3 |
| p.D169N | SKCM | 3 |
| p.E104K | SKCM | 3 |
| p.E162K | SKCM | 3 |
| p.S379F | SKCM | 2 |
| p.S274L | SKCM | 2 |
| p.R189* | SKCM | 2 |
| p.E278K | UCEC | 2 |
| p.D323N | SKCM | 2 |
| p.W185* | SKCM | 2 |
| p.R189X | SKCM | 2 |
| p.W185X | SKCM | 2 |
| p.E417K | SKCM | 2 |
| p.E493K | SKCM | 2 |
| p.G392E | SKCM | 2 |
| p.D307N | SKCM | 1 |
| p.M303L | SKCM | 1 |
| p.E352K | SKCM | 1 |
| p.S573L | SKCM | 1 |
| p.A32T | SKCM | 1 |
| p.D139N | SKCM | 1 |
| p.G405V | LUAD | 1 |
| p.C562G | PAAD | 1 |
| p.D169N | UCEC | 1 |
| p.Y330H | STAD | 1 |
| p.Q489* | SKCM | 1 |
| p.S259T | LUSC | 1 |
| p.S317L | SKCM | 1 |
| p.D306N | SKCM | 1 |
| p.Q101X | STAD | 1 |
| p.L11X | LIHC | 1 |
| p.P565S | KIRP | 1 |
| p.K361* | SKCM | 1 |
| p.R92K | LUSC | 1 |
| p.E511K | SKCM | 1 |
| p.Y181F | LUAD | 1 |
| p.P256T | LUAD | 1 |
| p.E187K | SKCM | 1 |
| p.R485S | ESCA | 1 |
| p.A82V | STAD | 1 |
| p.G403V | LUAD | 1 |
| p.G432S | SKCM | 1 |
| p.E385K | SKCM | 1 |
| p.G255D | ESCA | 1 |
| p.T581M | STAD | 1 |
| p.L113F | SARC | 1 |
| p.G224R | SKCM | 1 |
| p.L524W | HNSC | 1 |
| p.T581K | LUSC | 1 |
| p.G405S | KIRP | 1 |
| p.Q101* | STAD | 1 |
| p.S270L | LUAD | 1 |
| p.D371Y | UCEC | 1 |
| p.R59Q | OV | 1 |
| p.E557K | SKCM | 1 |
| p.R207W | READ | 1 |
| p.C130Y | HNSC | 1 |
| p.S541I | THYM | 1 |
| p.R577Q | GBM | 1 |
| p.T105A | LIHC | 1 |
| p.L468P | LIHC | 1 |
| p.L380S | LUAD | 1 |
| p.E363K | SKCM | 1 |
| p.E385D | THYM | 1 |
| p.Q15E | HNSC | 1 |
| p.R207Q | SKCM | 1 |
| p.R59Q | STAD | 1 |
| p.P508L | UCEC | 1 |
| p.N437S | SKCM | 1 |
| p.G183R | BLCA | 1 |
| p.A35T | COAD | 1 |
| p.E195Q | BLCA | 1 |
| p.D311N | SKCM | 1 |
| p.D311G | UCEC | 1 |
| p.G253C | LUAD | 1 |
| p.G391V | LUAD | 1 |
| p.A35T | LUSC | 1 |
| p.G117R | SKCM | 1 |
| p.K295* | HNSC | 1 |
| p.G535_splice | LUSC | 1 |
| p.E203D | READ | 1 |
| p.R107H | PRAD | 1 |
| p.R444L | STAD | 1 |
| p.S395L | SKCM | 1 |
| p.G396E | SKCM | 1 |
| p.A233S | HNSC | 1 |
| p.G183E | SKCM | 1 |
| p.R498Q | PAAD | 1 |
| p.D99N | SKCM | 1 |
| p.R480L | LUSC | 1 |
| p.R577Q | PAAD | 1 |
| p.A566V | LUAD | 1 |
| p.F293L | ESCA | 1 |
| p.E162V | PRAD | 1 |
| p.Y205H | STAD | 1 |
| p.E22D | BLCA | 1 |
| p.G200E | SKCM | 1 |
| p.F7I | SKCM | 1 |
| p.R189Q | SKCM | 1 |
| p.E144K | SKCM | 1 |
| p.G429C | ESCA | 1 |
| p.G124S | COAD | 1 |
| p.P575L | COAD | 1 |
| p.S547F | SKCM | 1 |
| p.S274* | STAD | 1 |
| p.T581M | COAD | 1 |
| p.P66R | ESCA | 1 |
| p.A35T | GBM | 1 |
| p.S10F | SKCM | 1 |
| p.Q518H | HNSC | 1 |
| p.S125C | LUAD | 1 |
| p.A221V | HNSC | 1 |
| p.L159M | STAD | 1 |
| p.G338D | BLCA | 1 |
| p.S472C | LGG | 1 |
| p.F402C | UCEC | 1 |
| p.K242I | SKCM | 1 |
| p.S42N | BLCA | 1 |
| p.E218K | SKCM | 1 |
| p.R186M | LUAD | 1 |
| p.R484H | ESCA | 1 |
| p.T581K | BLCA | 1 |
| p.K57* | SKCM | 1 |
| p.G474W | UCEC | 1 |
| p.Y143N | LUAD | 1 |
| p.F217Y | STAD | 1 |
| p.G17W | LUAD | 1 |
| p.D458N | COAD | 1 |
| p.H465Y | DLBC | 1 |
| p.A170V | THYM | 1 |
| p.R111H | LGG | 1 |
| p.K400T | UCEC | 1 |
| p.A82T | SKCM | 1 |
| p.G338D | UCEC | 1 |
| p.R29K | LUAD | 1 |
| p.G71E | SKCM | 1 |
| p.L262M | LUAD | 1 |
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| TissGeneCNV for C8A |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for C8A |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BG567002 | NAV2-C8A | chr11:19990454 | chr1:57383280 | |
| TCGAfusionPortal | PRADA | OV | TCGA-04-1341-01A | RNF11-C8A | Out-of-frame | Chr1:51702551 | Chr1:57347118 |
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| TissGeneNet for C8A |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| COAD (tumor) | COAD (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| KICH (tumor) | KICH (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| STAD (tumor) | STAD (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| THCA (tumor) | THCA (normal) |
| C8A, C8B, C8G, CD59, C9 (tumor) | C8A, C8B, C8G, CD59, C9 (normal) |
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| TissGeneProg for C8A |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for C8A |
| TissGeneDrug for C8A |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for C8A |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| umls:C0025289 | Meningitis | 1 | CTD_human |
| umls:C0027051 | Myocardial Infarction | 1 | RGD |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0085396 | Neisseriaceae Infections | 1 | CTD_human |
| umls:C0242383 | Age related macular degeneration | 1 | GAD |
| umls:C3151081 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | 0 | CLINVAR,CTD_human |
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