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| TissGeneSummary for DIO1 |
 Gene summary |
| Basic gene information | Gene symbol | DIO1 |
| Gene name | deiodinase, iodothyronine, type I | |
| Synonyms | 5DI|TXDI1 | |
| Cytomap | UCSC genome browser: 1p33-p32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000792.5, NM_001039715.1,NM_001039716.1,NM_213593.3, | |
| Description | DIOIiodothyronine deiodinase type 1thyroxine deiodinase type I (selenoprotein)type 1 DItype I iodothyronine deiodinasetype-I 5'-deiodinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 147892 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000211452 | ||
| HPRD : 01002 | ||
| Vega : OTTHUMG00000008435 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DIO1 | |
| BioGPS: 1733 | ||
| Pathway | NCI Pathway Interaction Database: DIO1 | |
| KEGG: DIO1 | ||
| REACTOME: DIO1 | ||
| Pathway Commons: DIO1 | ||
| Context | iHOP: DIO1 | |
| ligand binding site mutation search in PubMed: DIO1 | ||
| UCL Cancer Institute: DIO1 | ||
| 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) | KidneyLiverThyroid gland | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHLIHCTHCA | |
| Reference showing the relevant tissue of DIO1 | ||
| 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 DIO1 |
| 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 | 3.92518101 | 8.431897959 | -4.506716949 | 1.09E-12 | 9.54E-12 |
| KICH | -2.756964278 | 4.114447722 | -6.871412 | 8.91E-12 | 8.65E-11 |
| KIRC | -0.687632667 | 4.460814556 | -5.148447222 | 5.87E-19 | 4.18E-18 |
| LUSC | -2.408638631 | -0.618419023 | -1.790219608 | 8.72E-11 | 3.32E-10 |
| BRCA | 1.765457757 | -0.386037857 | 2.151495614 | 4.00E-10 | 1.48E-09 |
| KIRP | 0.571649972 | 5.584681222 | -5.01303125 | 1.34E-09 | 1.23E-08 |
| PRAD | -0.538569739 | -1.836483201 | 1.297913462 | 0.000447 | 0.001595107 |
| HNSC | -2.595553952 | -1.354142324 | -1.241411628 | 0.000141 | 0.000604286 |
| LIHC | 6.724721722 | 8.227819722 | -1.503098 | 7.15E-05 | 0.000255308 |
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| TissGene-miRNA for DIO1 |
| 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 DIO1 |
| TissGeneSNV for DIO1 |
| 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.R193C | UCEC | 2 |
| p.N106S | SKCM | 1 |
| p.N203K | LUAD | 1 |
| p.R167G | KIRP | 1 |
| p.M44T | LUAD | 1 |
| p.R81* | UCEC | 1 |
| p.E46K | SKCM | 1 |
| p.P93S | KIRC | 1 |
| p.G2R | UCEC | 1 |
| p.P93L | KIRC | 1 |
| p.D59N | SKCM | 1 |
| p.R180H | UCEC | 1 |
| p.I107V | SKCM | 1 |
| p.L82P | UCEC | 1 |
| p.E245K | SKCM | 1 |
| p.A135T | SKCM | 1 |
| p.F131L | PAAD | 1 |
| p.M169I | SARC | 1 |
| p.I41N | UCEC | 1 |
| p.A183T | SKCM | 1 |
| p.T64A | THCA | 1 |
| p.R99H | STAD | 1 |
| p.R132C | READ | 1 |
| p.F71L | READ | 1 |
| p.R132H | UCEC | 1 |
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| TissGeneCNV for DIO1 |
| 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 DIO1 |
| 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 DIO1 |
| 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 DIO1 |
| 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 DIO1 |
| TissGeneDrug for DIO1 |
| 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 DIO1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0018213 | Graves Disease | 2 | BeFree |
| umls:C0032019 | Pituitary Neoplasms | 2 | BeFree,LHGDN |
| umls:C2239176 | Liver carcinoma | 2 | BeFree |
| umls:C0002793 | Anaplasia | 1 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0016065 | Polyostotic fibrous dysplasia | 1 | LHGDN |
| umls:C0020551 | Hyperthyroxinemia | 1 | CTD_human |
| umls:C0020676 | Hypothyroidism | 1 | GAD |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | RGD |
| umls:C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| umls:C0026764 | Multiple Myeloma | 1 | GWASCAT |
| umls:C0040128 | Thyroid Diseases | 1 | CTD_human |
| umls:C0151468 | Thyroid Gland Follicular Adenoma | 1 | BeFree |
| umls:C0205647 | Follicular adenoma | 1 | BeFree |
| umls:C0206682 | Follicular thyroid carcinoma | 1 | BeFree |
| umls:C0238463 | Papillary thyroid carcinoma | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | GAD |
| umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | BeFree |
| umls:C0518010 | body mass | 1 | GAD |
| umls:C0549473 | Thyroid carcinoma | 1 | BeFree |
| umls:C0740457 | Malignant neoplasm of kidney | 1 | BeFree |
| umls:C1378703 | Renal carcinoma | 1 | BeFree |
| umls:C1458155 | Mammary Neoplasms | 1 | LHGDN |
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