TissGeneSummary for CFHR1 |
Gene summary |
Basic gene information | Gene symbol | CFHR1 |
Gene name | complement factor H-related 1 | |
Synonyms | CFHL|CFHL1|CFHL1P|CFHR1P|FHR1|H36-1|H36-2|HFL1|HFL2 | |
Cytomap | UCSC genome browser: 1q32 | |
Type of gene | protein-coding | |
RefGenes | NM_002113.2, | |
Description | FHR-1H factor (complement)-like 1H factor (complement)-like 2H-factor-like 1H36complement factor H-related 1 pseudogenecomplement factor H-related protein 1h factor-like protein 1 | |
Modification date | 20141219 | |
dbXrefs | MIM : 134371 | |
HGNC : HGNC | ||
Ensembl : ENSG00000244414 | ||
HPRD : 00602 | ||
Vega : OTTHUMG00000036276 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CFHR1 | |
BioGPS: 3078 | ||
Pathway | NCI Pathway Interaction Database: CFHR1 | |
KEGG: CFHR1 | ||
REACTOME: CFHR1 | ||
Pathway Commons: CFHR1 | ||
Context | iHOP: CFHR1 | |
ligand binding site mutation search in PubMed: CFHR1 | ||
UCL Cancer Institute: CFHR1 | ||
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 CFHR1 | ||
Description by TissGene annotations | High usage of specific isoform 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 CFHR1 |
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) |
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) |
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. |
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) |
- 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 |
KIRC | -1.370849677 | 0.970990601 | -2.341840278 | 3.09E-11 | 1.15E-10 |
KIRP | -1.145884746 | 0.588334004 | -1.73421875 | 0.000225 | 0.000713508 |
KICH | -1.671808621 | 0.392895379 | -2.064704 | 7.41E-05 | 0.000199166 |
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TissGene-miRNA for CFHR1 |
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 CFHR1 |
TissGeneSNV for CFHR1 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.R270Q | SKCM | 2 |
p.G206E | SKCM | 2 |
p.C147F | LUAD | 1 |
p.G254R | SKCM | 1 |
p.R309H | STAD | 1 |
p.N115D | HNSC | 1 |
p.Q200E | LUSC | 1 |
p.E75Q | BLCA | 1 |
p.V148L | PAAD | 1 |
p.E170D | COAD | 1 |
p.Y42* | UCEC | 1 |
p.H157Y | COAD | 1 |
p.R248L | LUAD | 1 |
p.E36* | HNSC | 1 |
p.P90H | COAD | 1 |
p.W77* | SKCM | 1 |
p.R314Q | SKCM | 1 |
p.R302Q | LUAD | 1 |
p.P212S | SKCM | 1 |
p.W318* | SKCM | 1 |
p.S43F | SKCM | 1 |
p.P26L | SKCM | 1 |
p.R141W | STAD | 1 |
p.G95C | LUSC | 1 |
p.G206R | SKCM | 1 |
p.R314L | LUAD | 1 |
p.K287R | BRCA | 1 |
p.E186K | SKCM | 1 |
p.S204Y | COAD | 1 |
p.I112V | SKCM | 1 |
p.R69C | UCEC | 1 |
p.D24N | SKCM | 1 |
p.V148A | STAD | 1 |
p.L288I | PAAD | 1 |
p.V143D | GBM | 1 |
p.G31E | SKCM | 1 |
p.S168A | STAD | 1 |
p.W134X | SKCM | 1 |
p.V92L | LUAD | 1 |
p.W134* | HNSC | 1 |
p.W134* | SKCM | 1 |
p.D108Y | UCEC | 1 |
p.E36K | SKCM | 1 |
p.G48E | SKCM | 1 |
p.W318X | SKCM | 1 |
p.S168F | BLCA | 1 |
p.S65L | SKCM | 1 |
p.Q44K | LUAD | 1 |
p.P223L | UCS | 1 |
p.R132P | LUAD | 1 |
p.I323L | KIRP | 1 |
p.E297K | SKCM | 1 |
p.I272T | LUAD | 1 |
p.D183G | LUSC | 1 |
p.E56* | LUAD | 1 |
p.W77C | PRAD | 1 |
p.A296V | SKCM | 1 |
p.D319N | SKCM | 1 |
p.P62H | LUSC | 1 |
p.R330S | CESC | 1 |
p.E234K | BLCA | 1 |
p.M273I | SKCM | 1 |
p.C140R | GBM | 1 |
p.Q44H | UCEC | 1 |
p.R314Q | STAD | 1 |
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TissGeneCNV for CFHR1 |
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 CFHR1 |
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 |
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TissGeneNet for CFHR1 |
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) |
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TissGeneProg for CFHR1 |
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. |
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. |
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. |
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 CFHR1 |
TissGeneDrug for CFHR1 |
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 CFHR1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0242383 | Age related macular degeneration | 17 | BeFree,GAD,LHGDN |
umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 16 | BeFree,CTD_human,GAD |
umls:C0017661 | IGA Glomerulonephritis | 3 | BeFree,CTD_human |
umls:C0019061 | Hemolytic-Uremic Syndrome | 3 | BeFree,GAD,LHGDN |
umls:C0023467 | Leukemia, Myelocytic, Acute | 2 | BeFree |
umls:C0152013 | Adenocarcinoma of lung (disorder) | 2 | BeFree |
umls:C0017662 | Glomerulonephritis, Membranoproliferative | 1 | BeFree |
umls:C0018133 | Graft-vs-Host Disease | 1 | BeFree |
umls:C0020538 | Hypertensive disease | 1 | BeFree |
umls:C0022661 | Kidney Failure, Chronic | 1 | BeFree |
umls:C0023448 | Lymphoid leukemia | 1 | GAD |
umls:C0024141 | Lupus Erythematosus, Systemic | 1 | BeFree |
umls:C0024301 | Lymphoma, Follicular | 1 | BeFree |
umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
umls:C0025303 | Meningococcal Infections | 1 | BeFree |
umls:C0038454 | Cerebrovascular accident | 1 | BeFree |
umls:C0042769 | Virus Diseases | 1 | BeFree |
umls:C0268731 | Renal glomerular disease | 1 | BeFree |
umls:C0302810 | Uremia syndrome | 1 | BeFree |
umls:C1531624 | Cardioembolic stroke | 1 | BeFree |
umls:C1536085 | Geographic Atrophy | 1 | BeFree |
umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
umls:C2717961 | Thrombotic Microangiopathies | 1 | BeFree |
umls:C0268743 | Membranoproliferative Glomerulonephritis, Type II | 0 | ORPHANET |
umls:C1864205 | Macular Degeneration, Age-Related, 1 | 0 | CTD_human |
umls:C2749604 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | 0 | ORPHANET |
umls:C3553720 | CFHR5 DEFICIENCY | 0 | ORPHANET |