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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for DIO3 |
Basic gene info. | Gene symbol | DIO3 |
Gene name | deiodinase, iodothyronine, type III | |
Synonyms | 5DIII|D3|DIOIII|TXDI3 | |
Cytomap | UCSC genome browser: 14q32 | |
Genomic location | chr14 :102027687-102029789 | |
Type of gene | protein-coding | |
RefGenes | NM_001362.3, | |
Ensembl id | ENSG00000197406 | |
Description | iodothyronine deiodinase, placental typethyroxine deiodinase type III (selenoprotein)type 3 DItype 3 iodothyronine selenodeiodinasetype III iodothyronine deiodinasetype-III 5' deiodinasetype-III 5'-deiodinase | |
Modification date | 20141207 | |
dbXrefs | MIM : 601038 | |
HGNC : HGNC | ||
Ensembl : ENSG00000197406 | ||
HPRD : 11867 | ||
Vega : OTTHUMG00000160681 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DIO3 | |
BioGPS: 1735 | ||
Gene Expression Atlas: ENSG00000197406 | ||
The Human Protein Atlas: ENSG00000197406 | ||
Pathway | NCI Pathway Interaction Database: DIO3 | |
KEGG: DIO3 | ||
REACTOME: DIO3 | ||
ConsensusPathDB | ||
Pathway Commons: DIO3 | ||
Metabolism | MetaCyc: DIO3 | |
HUMANCyc: DIO3 | ||
Regulation | Ensembl's Regulation: ENSG00000197406 | |
miRBase: chr14 :102,027,687-102,029,789 | ||
TargetScan: NM_001362 | ||
cisRED: ENSG00000197406 | ||
Context | iHOP: DIO3 | |
cancer metabolism search in PubMed: DIO3 | ||
UCL Cancer Institute: DIO3 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for DIO3(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: DIO3 |
Familial Cancer Database: DIO3 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: DIO3 |
MedGen: DIO3 (Human Medical Genetics with Condition) | |
ClinVar: DIO3 | |
Phenotype | MGI: DIO3 (International Mouse Phenotyping Consortium) |
PhenomicDB: DIO3 |
Mutations for DIO3 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows DIO3 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=39) | (# total SNVs=14) |
(# total SNVs=1) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr14:102028511-102028511 | p.V200V | 3 |
chr14:102028413-102028413 | p.L168I | 2 |
chr14:102028063-102028063 | p.R51L | 2 |
chr14:102028220-102028220 | p.A103A | 2 |
chr14:102028588-102028588 | p.S226L | 2 |
chr14:102028235-102028235 | p.P108P | 2 |
chr14:102028704-102028704 | p.R265C | 2 |
chr14:102028607-102028607 | p.F232F | 2 |
chr14:102028284-102028284 | p.I125fs*27 | 1 |
chr14:102028629-102028629 | p.S240G | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
# mutation |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
nonsynonymous SNV |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
synonymous SNV |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
Other DBs for Point Mutations |
Copy Number for DIO3 in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for DIO3 |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
APCS,APOA2,APOA4,APOB,APOC3,ASGR2,C8A, C9,CREB3L3,CRH,CRP,DIO3,F2,F9, FABP1,FGF23,MT1B,MT1M,PLG,SERPINA7,TM4SF5 | ABCC12,ABCC2,AKR1D1,C6orf223,CHRNA2,CSPG5,DIO3, DPP10,FCN2,FKBP5,G6PD,HPGD,INSM2,LSS, MCCC1,MVD,PEX10,SCP2,SLC43A1,SLCO1B1,TARP | ||||
C5orf52,CHRNA2,DIO3,DIO3OS,ERP27,GPR83,KCTD16, KNG1,KRT36,KRT38,LCN10,MYL3,NAV2,OR10S1, PTPRD,RPS6KC1,TGM5,TMPRSS6,UGT2A3,UGT2B7,UNC13C | ACER2,AMACR,BSDC1,CPNE2,DIO3,DIO3OS,NUTM2A, GALNT12,IER5,IHH,ILDR1,INPP5K,LIPC,LRRN2, MKNK2,NEDD4L,TINCR,SLC26A2,SLC26A6,SYTL2,USP54 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for DIO3 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00451 | deiodinase, iodothyronine, type III | approved | Levothyroxine |
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Cross referenced IDs for DIO3 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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