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| TissGeneSummary for C1R |
 Gene summary |
| Basic gene information | Gene symbol | C1R |
| Gene name | complement component 1, r subcomponent | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 12p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001733.4, | |
| Description | complement C1r subcomponent | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613785 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000159403 | ||
| HPRD : 01954 | ||
| Vega : OTTHUMG00000168149 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C1R | |
| BioGPS: 715 | ||
| Pathway | NCI Pathway Interaction Database: C1R | |
| KEGG: C1R | ||
| REACTOME: C1R | ||
| Pathway Commons: C1R | ||
| Context | iHOP: C1R | |
| ligand binding site mutation search in PubMed: C1R | ||
| UCL Cancer Institute: C1R | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | LiverSoft tissue | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHCSARC | |
| Reference showing the relevant tissue of C1R | ||
| Description by TissGene annotations | Protective TissGene in RFS | |
| * 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 |
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| TissGeneExp for C1R |
| 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 |
| LIHC | 2.83621375 | 4.79537975 | -1.959166 | 1.62E-16 | 6.79E-15 |
| KICH | -4.18071025 | -0.65289425 | -3.527816 | 1.61E-12 | 1.83E-11 |
| THCA | -1.861285234 | -0.35485642 | -1.506428814 | 3.91E-08 | 1.79E-07 |
| BLCA | 0.056927434 | 1.707690592 | -1.650763158 | 8.86E-06 | 0.000175934 |
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| TissGene-miRNA for C1R |
| 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 C1R |
| TissGeneSNV for C1R |
| 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.Q328H | ESCA | 1 |
| p.L589F | LUAD | 1 |
| p.G574E | SKCM | 1 |
| p.R538L | HNSC | 1 |
| p.N97S | SKCM | 1 |
| p.P34L | SKCM | 1 |
| p.D534N | SKCM | 1 |
| p.G545E | SKCM | 1 |
| p.G415C | UCEC | 1 |
| p.G52R | SKCM | 1 |
| p.M478I | THCA | 1 |
| p.G507C | UCEC | 1 |
| p.G178D | SKCM | 1 |
| p.G605C | LUSC | 1 |
| p.L452M | LGG | 1 |
| p.E548K | SKCM | 1 |
| p.Q408P | SKCM | 1 |
| p.M478L | HNSC | 1 |
| p.V708G | UCEC | 1 |
| p.R13G | LIHC | 1 |
| p.L535M | LGG | 1 |
| p.C175Y | UCEC | 1 |
| p.G26R | BLCA | 1 |
| p.A438V | SKCM | 1 |
| p.G268E | SKCM | 1 |
| p.P454S | UCS | 1 |
| p.T613A | LUAD | 1 |
| p.E237A | BLCA | 1 |
| p.L11M | UCEC | 1 |
| p.I256S | UCEC | 1 |
| p.D629Y | CESC | 1 |
| p.R148W | SKCM | 1 |
| p.P527L | SKCM | 1 |
| p.G178S | SKCM | 1 |
| p.E103K | SKCM | 1 |
| p.P527S | SKCM | 1 |
| p.F119C | UCEC | 1 |
| p.D554N | SKCM | 1 |
| p.R589C | LUSC | 1 |
| p.E316K | SKCM | 1 |
| p.F102L | UCEC | 1 |
| p.D277N | LUSC | 1 |
| p.S592C | SARC | 1 |
| p.S147F | SKCM | 1 |
| p.Y468* | UCEC | 1 |
| p.L537F | LUAD | 1 |
| p.G421S | SKCM | 1 |
| p.G409R | UCEC | 1 |
| p.G519R | KICH | 1 |
| p.R486L | HNSC | 1 |
| p.S108Y | UCEC | 1 |
| p.P156S | SKCM | 1 |
| p.E475K | LUAD | 1 |
| p.E456K | SKCM | 1 |
| p.T198M | ESCA | 1 |
| p.Q339* | UCEC | 1 |
| p.P253H | UCEC | 1 |
| p.T277I | LUAD | 1 |
| p.P21S | SKCM | 1 |
| p.G27R | BLCA | 1 |
| p.E331K | UCEC | 1 |
| p.E458K | SKCM | 1 |
| p.L25M | UCEC | 1 |
| p.V605I | PAAD | 1 |
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| TissGeneCNV for C1R |
| 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 C1R |
| 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 | AU098919 | RYK-C1R | chr3:133926352 | chr12:7244194 | |
| Chimerdb3.0 | ChiTaRs | NA | AW866363 | FBXW2-C1R | chr9:123548617 | chr12:7187582 | |
| Chimerdb3.0 | ChiTaRs | NA | BE829955 | C1R-MYO9B | chr12:7188008 | chr19:17291776 |
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| TissGeneNet for C1R |
| 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) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| COAD (tumor) | COAD (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| KICH (tumor) | KICH (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| STAD (tumor) | STAD (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| THCA (tumor) | THCA (normal) |
| C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (tumor) | C1R, CSNK2A1, PITX3, EP300, PCK1, C1QB, C1QA, C1S, SERPING1 (normal) |
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| TissGeneProg for C1R |
| 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 C1R |
| TissGeneDrug for C1R |
| 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 C1R |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0002395 | Alzheimer's Disease | 1 | GAD |
| umls:C0014175 | Endometriosis | 1 | CTD_human |
| umls:C0030524 | Paratuberculosis | 1 | CTD_human |
| umls:C3150274 | COMPLEMENT COMPONENT C1r/C1s DEFICIENCY | 0 | CTD_human |
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