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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for IDUA |
Basic gene info. | Gene symbol | IDUA |
Gene name | iduronidase, alpha-L- | |
Synonyms | IDA|MPS1 | |
Cytomap | UCSC genome browser: 4p16.3 | |
Genomic location | chr4 :980784-998317 | |
Type of gene | protein-coding | |
RefGenes | NM_000203.4, NR_110313.1, | |
Ensembl id | ENSG00000127415 | |
Description | alpha-L-iduronidase | |
Modification date | 20141219 | |
dbXrefs | MIM : 252800 | |
HGNC : HGNC | ||
Ensembl : ENSG00000127415 | ||
HPRD : 02016 | ||
Vega : OTTHUMG00000088901 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_IDUA | |
BioGPS: 3425 | ||
Gene Expression Atlas: ENSG00000127415 | ||
The Human Protein Atlas: ENSG00000127415 | ||
Pathway | NCI Pathway Interaction Database: IDUA | |
KEGG: IDUA | ||
REACTOME: IDUA | ||
ConsensusPathDB | ||
Pathway Commons: IDUA | ||
Metabolism | MetaCyc: IDUA | |
HUMANCyc: IDUA | ||
Regulation | Ensembl's Regulation: ENSG00000127415 | |
miRBase: chr4 :980,784-998,317 | ||
TargetScan: NM_000203 | ||
cisRED: ENSG00000127415 | ||
Context | iHOP: IDUA | |
cancer metabolism search in PubMed: IDUA | ||
UCL Cancer Institute: IDUA | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for IDUA(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: IDUA |
Familial Cancer Database: IDUA |
* 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_CARBOHYDRATES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: IDUA |
MedGen: IDUA (Human Medical Genetics with Condition) | |
ClinVar: IDUA | |
Phenotype | MGI: IDUA (International Mouse Phenotyping Consortium) |
PhenomicDB: IDUA |
Mutations for IDUA |
* 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 |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | IDUA | chr4 | 996268 | 996288 | WDFY3-AS2 | chr4 | 85922650 | 85922670 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows IDUA 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 |
AW136332 | IDUA | 1 | 327 | 4 | 996572 | 997176 | IDUA | 323 | 382 | 4 | 997823 | 997882 | |
BE939137 | FAM134C | 1 | 79 | 17 | 40732512 | 40732590 | IDUA | 76 | 225 | 4 | 992259 | 992408 |
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=21) | (# total SNVs=8) |
(# total SNVs=0) | (# 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 |
chr4:996165-996165 | p.A361T | 2 |
chr4:995923-995923 | p.V316M | 2 |
chr4:996888-996888 | p.R489R | 2 |
chr4:995272-995272 | p.A170A | 2 |
chr4:995294-995294 | p.E178K | 2 |
chr4:995305-995305 | p.N181N | 1 |
chr4:997818-997818 | p.E582E | 1 |
chr4:995665-995665 | p.R263M | 1 |
chr4:980873-980873 | p.M1V | 1 |
chr4:996138-996138 | p.F352L | 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 |   | 1 |   | 2 | 2 |   | 3 |   | 1 |   |   | 1 | 1 |   |   |   | 5 | 5 |   | 6 |
# mutation |   | 1 |   | 2 | 2 |   | 3 |   | 1 |   |   | 1 | 2 |   |   |   | 5 | 6 |   | 6 |
nonsynonymous SNV |   | 1 |   | 2 |   |   | 3 |   | 1 |   |   |   | 2 |   |   |   | 3 | 2 |   | 5 |
synonymous SNV |   |   |   |   | 2 |   |   |   |   |   |   | 1 |   |   |   |   | 2 | 4 |   | 1 |
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 |
chr4:995272 | p.A170A | 2 |
chr4:995294 | p.E178K | 2 |
chr4:995557 | p.D624N | 1 |
chr4:997815 | p.R210R | 1 |
chr4:980873 | p.P631L | 1 |
chr4:995592 | p.R217R | 1 |
chr4:997818 | p.T227S | 1 |
chr4:994704 | p.P650R | 1 |
chr4:995599 | p.R239C | 1 |
chr4:998057 | p.C241Y | 1 |
Other DBs for Point Mutations |
Copy Number for IDUA 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 IDUA |
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 |
ANKS3,LMNTD2,CCDC24,D2HGDH,FAM193B,IDUA,JMJD7-PLA2G4B, PIDD1,MICALL2,MYL5,MZF1,NEIL1,PCSK4,PHF1, SCNN1D,SNRNP70,TMEM129,TMEM175,UBXN11,WASH7P,ZBTB48 | A1BG,B3GAT3,OXLD1,C19orf25,C1orf159,C1orf86,BRAT1, PPP1R35,C9orf142,EVA1B,IDUA,INO80E,LRRC29,MFSD10, NME3,NPDC1,PIGQ,PNKP,INAFM1,SIRT6,SNAPC2 |
ADAMTS13,AGAP4,AHSA2,APBB3,CCDC130,CCNL2,CLK2, CSAD,FAM193B,GIGYF1,IDUA,INPP5E,MDM4,MZF1, PAQR6,PILRB,SCX,SGK494,SLC26A1,TMEM175,ZNF692 | ADAMTS13,ANAPC2,ANKMY1,ANO8,BAIAP3,ENTHD2,C17orf70, ABHD16B,HDAC10,IDUA,LRRC24,MAN2C1,MIB2,PCSK4, POLRMT,SELO,SLC12A9,SPPL2B,TYK2,ZDHHC14,ZNF653 |
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 IDUA |
There's no related Drug. |
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Cross referenced IDs for IDUA |
* 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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