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| TissGeneSummary for DFNB59 |
 Gene summary |
| Basic gene information | Gene symbol | DFNB59 |
| Gene name | deafness, autosomal recessive 59 | |
| Synonyms | PJVK | |
| Cytomap | UCSC genome browser: 2q31.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001042702.3, | |
| Description | autosomal recessive deafness type 59 proteinpejvakin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610219 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204311 | ||
| Vega : OTTHUMG00000154425 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DFNB59 | |
| BioGPS: 494513 | ||
| Pathway | NCI Pathway Interaction Database: DFNB59 | |
| KEGG: DFNB59 | ||
| REACTOME: DFNB59 | ||
| Pathway Commons: DFNB59 | ||
| Context | iHOP: DFNB59 | |
| ligand binding site mutation search in PubMed: DFNB59 | ||
| UCL Cancer Institute: DFNB59 | ||
| 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) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of DFNB59 | ||
| 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 DFNB59 |
| 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 |
| BRCA | -1.010842163 | 0.514847311 | -1.525689474 | 2.71E-33 | 4.39E-32 |
| KICH | -1.460874829 | 0.021225171 | -1.4821 | 3.12E-11 | 2.70E-10 |
| PRAD | -1.832833829 | -0.793722291 | -1.039111538 | 4.65E-11 | 1.13E-09 |
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| TissGene-miRNA for DFNB59 |
| 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 DFNB59 |
| TissGeneSNV for DFNB59 |
| 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.S170L | ESCA | 1 |
| p.R319K | SKCM | 1 |
| p.P55H | UCEC | 1 |
| p.K197N | LGG | 1 |
| p.L273I | GBM | 1 |
| p.R167Q | UCEC | 1 |
| p.A340E | COAD | 1 |
| p.R265G | COAD | 1 |
| p.G176V | LUAD | 1 |
| p.R178* | BLCA | 1 |
| p.G313* | UCEC | 1 |
| p.V100I | KIRC | 1 |
| p.D261N | SKCM | 1 |
| p.R255T | LIHC | 1 |
| p.G233E | SKCM | 1 |
| p.V262A | STAD | 1 |
| p.F2C | UCEC | 1 |
| p.S143C | LUAD | 1 |
| p.H185Y | SKCM | 1 |
| p.D60N | SKCM | 1 |
| p.R319S | THYM | 1 |
| p.G90E | SKCM | 1 |
| p.A340V | STAD | 1 |
| p.L130F | LGG | 1 |
| p.R319M | COAD | 1 |
| p.D279N | HNSC | 1 |
| p.G17E | SKCM | 1 |
| p.E238K | CESC | 1 |
| p.N250D | LGG | 1 |
| p.G101R | LUSC | 1 |
| p.D29N | CHOL | 1 |
| p.S329F | UCEC | 1 |
| p.G194E | SKCM | 1 |
| p.R296Q | UCEC | 1 |
| p.R136_splice | LUSC | 1 |
| p.P202S | SKCM | 1 |
| p.S109C | ESCA | 1 |
| p.R258G | DLBC | 1 |
| p.R183W | PRAD | 1 |
| p.L224V | UCEC | 1 |
| p.G313X | CHOL | 1 |
| p.G313E | LUAD | 1 |
| p.T239M | LUAD | 1 |
| p.D141N | STAD | 1 |
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| TissGeneCNV for DFNB59 |
| 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 DFNB59 |
| 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 DFNB59 |
| 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 DFNB59 |
| 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 DFNB59 |
| TissGeneDrug for DFNB59 |
| 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 DFNB59 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 5 | BeFree |
| umls:C1852271 | Auditory neuropathy | 5 | BeFree |
| umls:C1384666 | hearing impairment | 3 | GAD,LHGDN |
| umls:C3711374 | Nonsyndromic Deafness | 3 | BeFree |
| umls:C0011053 | Deafness | 2 | CTD_human,GAD |
| umls:C1857744 | DEAFNESS, AUTOSOMAL RECESSIVE 59 | 2 | CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C2732267 | Auditory neuropathy spectrum disorder | 2 | BeFree |
| umls:C0018772 | Hearing Loss, Partial | 1 | GAD |
| umls:C3887873 | Hearing Loss | 1 | GAD |
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