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| TissGeneSummary for C8orf48 |
 Gene summary |
| Basic gene information | Gene symbol | C8orf48 |
| Gene name | chromosome 8 open reading frame 48 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 8p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001007090.2, | |
| Description | uncharacterized protein C8orf48 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000164743 | ||
| HPRD : 16922 | ||
| Vega : OTTHUMG00000165482 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C8orf48 | |
| BioGPS: 157773 | ||
| Pathway | NCI Pathway Interaction Database: C8orf48 | |
| KEGG: C8orf48 | ||
| REACTOME: C8orf48 | ||
| Pathway Commons: C8orf48 | ||
| Context | iHOP: C8orf48 | |
| ligand binding site mutation search in PubMed: C8orf48 | ||
| UCL Cancer Institute: C8orf48 | ||
| 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) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of C8orf48 | ||
| Description by TissGene annotations | ||
| * 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 C8orf48 |
| 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 |
| THCA | 2.423365467 | 3.461048518 | -1.037683051 | 5.30E-15 | 6.74E-14 |
| KICH | -0.719032567 | 1.218787433 | -1.93782 | 7.26E-10 | 4.71E-09 |
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| TissGene-miRNA for C8orf48 |
| 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 C8orf48 |
| TissGeneSNV for C8orf48 |
| 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.E118* | UCEC | 1 |
| p.R135C | COAD | 1 |
| p.T167N | READ | 1 |
| p.A191D | COAD | 1 |
| p.V319L | SARC | 1 |
| p.N131H | UCEC | 1 |
| p.D30G | UCEC | 1 |
| p.D239E | COAD | 1 |
| p.L307V | CESC | 1 |
| p.P252S | READ | 1 |
| p.M181T | DLBC | 1 |
| p.N27K | KICH | 1 |
| p.A207V | COAD | 1 |
| p.R175I | READ | 1 |
| p.K77T | UCEC | 1 |
| p.S41Y | COAD | 1 |
| p.N27T | UCEC | 1 |
| p.D116N | UCEC | 1 |
| p.M181I | BRCA | 1 |
| p.L173F | ESCA | 1 |
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| TissGeneCNV for C8orf48 |
| 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 C8orf48 |
| 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 C8orf48 |
| 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) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| COAD (tumor) | COAD (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| HNSC (tumor) | HNSC (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| KICH (tumor) | KICH (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| KIRC (tumor) | KIRC (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| KIRP (tumor) | KIRP (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| LIHC (tumor) | LIHC (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| LUAD (tumor) | LUAD (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| LUSC (tumor) | LUSC (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| PRAD (tumor) | PRAD (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| STAD (tumor) | STAD (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| THCA (tumor) | THCA (normal) |
| C8orf48, MDFI, CCDC85B (tumor) | C8orf48, MDFI, CCDC85B (normal) |
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| TissGeneProg for C8orf48 |
| 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 C8orf48 |
| TissGeneDrug for C8orf48 |
| 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 C8orf48 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0007273 | Carotid Artery Diseases | 1 | GAD |
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