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| TissGeneSummary for ESPN |
 Gene summary |
| Basic gene information | Gene symbol | ESPN |
| Gene name | espin | |
| Synonyms | DFNB36 | |
| Cytomap | UCSC genome browser: 1p36.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_031475.2, | |
| Description | autosomal recessive deafness type 36 proteinectoplasmic specialization protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606351 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000187017 | ||
| HPRD : 06962 | ||
| Vega : OTTHUMG00000000753 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ESPN | |
| BioGPS: 83715 | ||
| Pathway | NCI Pathway Interaction Database: ESPN | |
| KEGG: ESPN | ||
| REACTOME: ESPN | ||
| Pathway Commons: ESPN | ||
| Context | iHOP: ESPN | |
| ligand binding site mutation search in PubMed: ESPN | ||
| UCL Cancer Institute: ESPN | ||
| 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) | OvaryTestisEye | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | OVTGCTUVM | |
| Reference showing the relevant tissue of ESPN | ||
| Description by TissGene annotations | Fused withTSGene | |
| * 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 ESPN |
| 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 |
| LUSC | 0.434519382 | -2.709168854 | 3.143688235 | 8.99E-16 | 6.23E-15 |
| KICH | -2.836796226 | 0.851159774 | -3.687956 | 1.52E-05 | 4.62E-05 |
| KIRP | -1.717887726 | 2.088577899 | -3.806465625 | 1.31E-10 | 1.45E-09 |
| THCA | -1.837405311 | -6.170720565 | 4.333315254 | 3.71E-19 | 1.16E-17 |
| LUAD | -0.447814019 | -2.502446778 | 2.054632759 | 2.16E-09 | 1.09E-08 |
| BRCA | 0.19071644 | -1.332288823 | 1.523005263 | 3.48E-08 | 1.09E-07 |
| ESCA | 1.455408865 | -1.80943659 | 3.264845455 | 0.00079 | 0.012508028 |
| COAD | 0.985092081 | 2.140695928 | -1.155603846 | 9.88E-05 | 0.00035899 |
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| TissGene-miRNA for ESPN |
| 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 ESPN |
| TissGeneSNV for ESPN |
| 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.G251D | DLBC | 2 |
| p.K391R | KIRC | 1 |
| p.S679L | CESC | 1 |
| p.S338F | SKCM | 1 |
| p.K797R | KIRP | 1 |
| p.Q713* | CESC | 1 |
| p.A343S | THYM | 1 |
| p.P365L | DLBC | 1 |
| p.Q364H | UCEC | 1 |
| p.K807N | STAD | 1 |
| p.P439S | SKCM | 1 |
| p.G251D | COAD | 1 |
| p.S362W | LUAD | 1 |
| p.D150Y | UCEC | 1 |
| p.E159K | SKCM | 1 |
| p.R842* | STAD | 1 |
| p.D833N | SKCM | 1 |
| p.T376P | TGCT | 1 |
| p.S371C | LUAD | 1 |
| p.P275A | KIRP | 1 |
| p.A145T | STAD | 1 |
| p.A738V | SKCM | 1 |
| p.K391N | STAD | 1 |
| p.G251D | THCA | 1 |
| p.E822K | BLCA | 1 |
| p.R811Q | SKCM | 1 |
| p.K765N | UCEC | 1 |
| p.D130N | LUAD | 1 |
| p.P724Q | STAD | 1 |
| p.G127D | UCEC | 1 |
| p.G264W | LIHC | 1 |
| p.L716R | CHOL | 1 |
| p.I469M | BLCA | 1 |
| p.A145T | HNSC | 1 |
| p.P741S | SKCM | 1 |
| p.P839H | READ | 1 |
| p.R842L | LIHC | 1 |
| p.V327M | KIRC | 1 |
| p.R842X | STAD | 1 |
| p.P724L | MESO | 1 |
| p.K765N | CESC | 1 |
| p.A197T | STAD | 1 |
| p.R335H | CESC | 1 |
| p.K853N | LGG | 1 |
| p.H387N | BRCA | 1 |
| p.V736L | LUSC | 1 |
| p.G129R | SKCM | 1 |
| p.Q472R | UCEC | 1 |
| p.K427M | SKCM | 1 |
| p.G115R | ACC | 1 |
| p.E801D | ESCA | 1 |
| p.E658Q | THCA | 1 |
| p.P722S | SKCM | 1 |
| p.R842Q | SKCM | 1 |
| p.G682E | SKCM | 1 |
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| TissGeneCNV for ESPN |
| 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 ESPN |
| 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 | AL834172 | ESPN-DDX39B | chr1:6505826 | chr6:2828821 | |
| TCGAfusionPortal | PRADA | GBM | TCGA-14-0786-01B | ZBTB48-ESPN | In-frame | Chr1:6647351 | Chr1:6488286 |
| TCGAfusionPortal | PRADA | HNSC | TCGA-CN-5366-01A | ESPN-FBLIM1 | Out-of-frame | Chr1:6517432 | Chr1:16111043 |
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| TissGeneNet for ESPN |
| 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) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| COAD (tumor) | COAD (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| KICH (tumor) | KICH (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| STAD (tumor) | STAD (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| THCA (tumor) | THCA (normal) |
| ESPN, BAIAP2 (tumor) | ESPN, BAIAP2 (normal) |
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| TissGeneProg for ESPN |
| 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 ESPN |
| TissGeneDrug for ESPN |
| 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 ESPN |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0011053 | Deafness | 2 | CTD_human |
| umls:C1384666 | hearing impairment | 2 | LHGDN |
| umls:C0025202 | melanoma | 1 | BeFree |
| umls:C0027962 | Melanocytic nevus | 1 | BeFree |
| umls:C0035304 | Retinal Degeneration | 1 | BeFree |
| umls:C0042594 | Vestibular Diseases | 1 | CTD_human |
| umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 1 | BeFree |
| umls:C0271097 | Usher Syndrome | 1 | BeFree |
| umls:C1568249 | Usher Syndrome, Type II | 1 | BeFree |
| umls:C1837007 | DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT | 1 | CLINVAR,CTD_human,UNIPROT |
| umls:C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | 1 | BeFree |
| umls:C3711374 | Nonsyndromic Deafness | 1 | BeFree |
| umls:C3502293 | Deafness, Autosomal Recessive 36, Without Vestibular Involvement | 0 | CLINVAR |
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