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| TissGeneSummary for CFHR5 |
 Gene summary |
| Basic gene information | Gene symbol | CFHR5 |
| Gene name | complement factor H-related 5 | |
| Synonyms | CFHL5|CFHR5D|FHR-5|FHR5 | |
| Cytomap | UCSC genome browser: 1q31.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_030787.3, | |
| Description | complement factor H-related protein 5factor H-related protein 5 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 608593 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134389 | ||
| HPRD : 06508 | ||
| Vega : OTTHUMG00000036517 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CFHR5 | |
| BioGPS: 81494 | ||
| Pathway | NCI Pathway Interaction Database: CFHR5 | |
| KEGG: CFHR5 | ||
| REACTOME: CFHR5 | ||
| Pathway Commons: CFHR5 | ||
| Context | iHOP: CFHR5 | |
| ligand binding site mutation search in PubMed: CFHR5 | ||
| UCL Cancer Institute: CFHR5 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,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 CFHR5 | ||
| 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 |
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| TissGeneExp for CFHR5 |
| 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 | 8.23419194 | 9.68788394 | -1.453692 | 0.00834 | 0.017983631 |
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| TissGene-miRNA for CFHR5 |
| 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 CFHR5 |
| TissGeneSNV for CFHR5 |
| 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.D559N | SKCM | 3 |
| p.S112F | SKCM | 3 |
| p.R465H | CESC | 2 |
| p.E300K | SKCM | 2 |
| p.D535N | SKCM | 2 |
| p.S67F | SKCM | 2 |
| p.S152L | SKCM | 2 |
| p.P50S | SKCM | 2 |
| p.E73K | SKCM | 2 |
| p.R517K | SKCM | 2 |
| p.E276K | SKCM | 2 |
| p.S128L | UCEC | 2 |
| p.W340* | SKCM | 2 |
| p.S89F | SKCM | 2 |
| p.R465L | LUAD | 1 |
| p.W67* | UCEC | 1 |
| p.Q213L | GBM | 1 |
| p.P401T | LUAD | 1 |
| p.V205I | UCEC | 1 |
| p.H253R | BLCA | 1 |
| p.N494K | SKCM | 1 |
| p.F216S | HNSC | 1 |
| p.P161L | LGG | 1 |
| p.T475A | UCEC | 1 |
| p.S198F | SKCM | 1 |
| p.P114L | SKCM | 1 |
| p.P26S | SKCM | 1 |
| p.A438V | LUAD | 1 |
| p.S128L | SKCM | 1 |
| p.R93H | PRAD | 1 |
| p.A580T | BLCA | 1 |
| p.S128L | DLBC | 1 |
| p.C417F | LUAD | 1 |
| p.W521R | LGG | 1 |
| p.W497R | LGG | 1 |
| p.P377S | SKCM | 1 |
| p.S43F | SKCM | 1 |
| p.S486L | SKCM | 1 |
| p.P464S | SKCM | 1 |
| p.S88F | SKCM | 1 |
| p.E452K | SKCM | 1 |
| p.R548K | CESC | 1 |
| p.Y189C | PRAD | 1 |
| p.E324K | BLCA | 1 |
| p.H351Q | STAD | 1 |
| p.V287I | HNSC | 1 |
| p.A414V | STAD | 1 |
| p.E245K | SKCM | 1 |
| p.S159Y | LUAD | 1 |
| p.S392* | HNSC | 1 |
| p.I127F | SKCM | 1 |
| p.N150S | SKCM | 1 |
| p.M327I | LUAD | 1 |
| p.P263A | ACC | 1 |
| p.Q540X | SKCM | 1 |
| p.E318D | UCEC | 1 |
| p.P246R | GBM | 1 |
| p.M538I | SKCM | 1 |
| p.R230Q | SKCM | 1 |
| p.P493S | SKCM | 1 |
| p.G305E | SKCM | 1 |
| p.T268A | UCEC | 1 |
| p.S208L | SKCM | 1 |
| p.R477H | UCEC | 1 |
| p.P90L | SKCM | 1 |
| p.Q111K | LUAD | 1 |
| p.W158* | SKCM | 1 |
| p.R555X | COAD | 1 |
| p.L144I | LUAD | 1 |
| p.R69H | PAAD | 1 |
| p.S174F | SKCM | 1 |
| p.V263I | HNSC | 1 |
| p.R493K | SKCM | 1 |
| p.V360G | SKCM | 1 |
| p.Q237* | SKCM | 1 |
| p.R459Q | SKCM | 1 |
| p.P212S | SKCM | 1 |
| p.P477L | SKCM | 1 |
| p.P199Q | READ | 1 |
| p.C592Y | CESC | 1 |
| p.T406K | LUAD | 1 |
| p.P401L | SKCM | 1 |
| p.G141E | SKCM | 1 |
| p.M321L | LIHC | 1 |
| p.A571V | BLCA | 1 |
| p.R579* | SKCM | 1 |
| p.R19* | UCEC | 1 |
| p.Y303N | LUAD | 1 |
| p.A536V | STAD | 1 |
| p.Q544R | LUAD | 1 |
| p.P590R | LUAD | 1 |
| p.N518K | SKCM | 1 |
| p.D459H | HNSC | 1 |
| p.E73D | ESCA | 1 |
| p.E98K | BLCA | 1 |
| p.P65S | SKCM | 1 |
| p.A414V | LUAD | 1 |
| p.N400K | BLCA | 1 |
| p.I249M | STAD | 1 |
| p.A447S | STAD | 1 |
| p.H375Y | SKCM | 1 |
| p.F241V | COAD | 1 |
| p.G72E | SKCM | 1 |
| p.E221K | SKCM | 1 |
| p.Q213X | SKCM | 1 |
| p.C441S | HNSC | 1 |
| p.E428K | SKCM | 1 |
| p.C449R | LUSC | 1 |
| p.P577T | LUAD | 1 |
| p.R380C | ESCA | 1 |
| p.W316X | SKCM | 1 |
| p.A571E | LUAD | 1 |
| p.P62S | SKCM | 1 |
| p.V508A | GBM | 1 |
| p.N238K | READ | 1 |
| p.A547E | LUAD | 1 |
| p.E218A | STAD | 1 |
| p.D35N | SKCM | 1 |
| p.P41S | SKCM | 1 |
| p.P81L | STAD | 1 |
| p.M345I | SARC | 1 |
| p.Q237E | CESC | 1 |
| p.N376S | BLCA | 1 |
| p.P401S | SKCM | 1 |
| p.R356S | LUSC | 1 |
| p.D132N | SKCM | 1 |
| p.F554L | UCS | 1 |
| p.Q544E | LUAD | 1 |
| p.S61A | BRCA | 1 |
| p.K528Q | UCEC | 1 |
| p.S454Y | OV | 1 |
| p.R206Q | SKCM | 1 |
| p.P174L | SKCM | 1 |
| p.S353Y | COAD | 1 |
| p.S550* | UCEC | 1 |
| p.R69H | PRAD | 1 |
| p.C441F | LUAD | 1 |
| p.Q509* | SKCM | 1 |
| p.F481S | CHOL | 1 |
| p.Q135K | LUAD | 1 |
| p.P344S | SKCM | 1 |
| p.R477C | BRCA | 1 |
| p.P239A | ACC | 1 |
| p.C275* | LUAD | 1 |
| p.G183V | LUSC | 1 |
| p.T533A | STAD | 1 |
| p.F241L | UCEC | 1 |
| p.D483H | HNSC | 1 |
| p.P137L | LGG | 1 |
| p.N376K | BLCA | 1 |
| p.E124D | STAD | 1 |
| p.D108N | SKCM | 1 |
| p.F505S | CHOL | 1 |
| p.G329E | SKCM | 1 |
| p.W436* | STAD | 1 |
| p.S184L | SKCM | 1 |
| p.Q411P | MESO | 1 |
| p.K186* | PRAD | 1 |
| p.A556E | COAD | 1 |
| p.E49K | SKCM | 1 |
| p.P62H | LUSC | 1 |
| p.Q520R | LUAD | 1 |
| p.G245R | READ | 1 |
| p.K332N | UCEC | 1 |
| p.119_120SL>RI | LUAD | 1 |
| p.P105L | STAD | 1 |
| p.T484A | LGG | 1 |
| p.R548K | SKCM | 1 |
| p.S164G | STAD | 1 |
| p.P448S | SKCM | 1 |
| p.P86S | SKCM | 1 |
| p.P273T | LUSC | 1 |
| p.S174Y | LUSC | 1 |
| p.G294E | CESC | 1 |
| p.F578L | UCS | 1 |
| p.D59N | SKCM | 1 |
| p.P568L | SKCM | 1 |
| p.R356C | ESCA | 1 |
| p.G278* | THCA | 1 |
| p.D38E | STAD | 1 |
| p.T382K | LUAD | 1 |
| p.P105L | LGG | 1 |
| p.P453L | SKCM | 1 |
| p.P236S | SKCM | 1 |
| p.E49D | ESCA | 1 |
| p.S143R | LUAD | 1 |
| p.C171S | STAD | 1 |
| p.S65F | SKCM | 1 |
| p.Y279N | LUAD | 1 |
| p.I151F | SKCM | 1 |
| p.F32L | COAD | 1 |
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| TissGeneCNV for CFHR5 |
| 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 CFHR5 |
| 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 | FusionScan | PRAD | TCGA-KC-A7F3-01A | ZNHIT6-CFHR5 | Out-of-Frame | chr1:86167839 | chr1:196977616 |
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| TissGeneNet for CFHR5 |
| 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) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| COAD (tumor) | COAD (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| KICH (tumor) | KICH (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| STAD (tumor) | STAD (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| THCA (tumor) | THCA (normal) |
| CFHR5, C3 (tumor) | CFHR5, C3 (normal) |
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| TissGeneProg for CFHR5 |
| 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 CFHR5 |
| TissGeneDrug for CFHR5 |
| 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 CFHR5 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0022658 | Kidney Diseases | 15 | BeFree |
| umls:C0017658 | Glomerulonephritis | 7 | BeFree,GAD |
| umls:C0268731 | Renal glomerular disease | 4 | BeFree |
| umls:C0019061 | Hemolytic-Uremic Syndrome | 3 | BeFree,GAD |
| umls:C0022661 | Kidney Failure, Chronic | 3 | BeFree |
| umls:C0242383 | Age related macular degeneration | 3 | BeFree,GAD |
| umls:C0268743 | Membranoproliferative Glomerulonephritis, Type II | 3 | BeFree |
| umls:C1561643 | Chronic Kidney Diseases | 3 | BeFree |
| umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 3 | BeFree,GAD |
| umls:C0024141 | Lupus Erythematosus, Systemic | 2 | BeFree |
| umls:C0403447 | Chronic Kidney Insufficiency | 2 | BeFree |
| umls:C1305904 | Familial hematuria | 2 | BeFree |
| umls:C3714534 | dowling-degos disease | 2 | BeFree |
| umls:C0017662 | Glomerulonephritis, Membranoproliferative | 1 | BeFree,LHGDN |
| umls:C0024301 | Lymphoma, Follicular | 1 | BeFree |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
| umls:C0026821 | Muscle Cramp | 1 | BeFree |
| umls:C0035078 | Kidney Failure | 1 | BeFree |
| umls:C0038395 | Streptococcal Infections | 1 | BeFree |
| umls:C0272240 | Disorder of complement | 1 | BeFree |
| umls:C0403440 | Thin basement membrane disease | 1 | BeFree |
| umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
| umls:C2749604 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | 0 | ORPHANET |
| umls:C3553720 | CFHR5 DEFICIENCY | 0 | CLINVAR,ORPHANET |
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