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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for UROS |
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Phenotypic Information for UROS(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: UROS |
Familial Cancer Database: UROS |
* 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/ |
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KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM REACTOME_METABOLISM_OF_PORPHYRINS |
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OMIM | 263700; phenotype. 606938; gene. |
Orphanet | 79277; Congenital erythropoietic porphyria. |
Disease | KEGG Disease: UROS |
MedGen: UROS (Human Medical Genetics with Condition) | |
ClinVar: UROS | |
Phenotype | MGI: UROS (International Mouse Phenotyping Consortium) |
PhenomicDB: UROS |
Mutations for UROS |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows UROS 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 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 |   |   |   |   | 1 |   |   | 1 |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) | 1 |   |   |   |   | 1 |   |   | 1 |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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Stat. for Non-Synonymous SNVs (# total SNVs=13) | (# total SNVs=5) |
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(# total SNVs=1) | (# total SNVs=0) |
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* 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 |
chr10:127486659-127486659 | p.I150I | 1 |
chr10:127504782-127504782 | p.S37S | 1 |
chr10:127477535-127477535 | p.A234T | 1 |
chr10:127486691-127486691 | p.L140L | 1 |
chr10:127504804-127504804 | p.A30V | 1 |
chr10:127477546-127477546 | p.R230P | 1 |
chr10:127486714-127486714 | p.R132K | 1 |
chr10:127505020-127505020 | p.D17H | 1 |
chr10:127477547-127477547 | p.R230C | 1 |
chr10:127495986-127495986 | p.C130C | 1 |
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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 | 3 |   | 1 | 4 |   |   | 3 |   |   |   |   |   | 1 | 1 |   |   | 1 | 2 |   | 3 |
# mutation | 3 |   | 1 | 5 |   |   | 3 |   |   |   |   |   | 1 | 1 |   |   | 1 | 2 |   | 3 |
nonsynonymous SNV | 2 |   | 1 | 3 |   |   | 3 |   |   |   |   |   | 1 | 1 |   |   |   | 2 |   | 2 |
synonymous SNV | 1 |   |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   | 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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* 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 |
chr10:127503624 | p.E75Q | 2 |
chr10:127477544 | p.H52L | 1 |
chr10:127503639 | p.C265R | 1 |
chr10:127477552 | p.S37S | 1 |
chr10:127503673 | p.A234T | 1 |
chr10:127483469 | p.A30V | 1 |
chr10:127503692 | p.A231T | 1 |
chr10:127484719 | p.D17H | 1 |
chr10:127504782 | p.T228M | 1 |
chr10:127484732 | p.K7Q | 1 |
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* 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. |
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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 UROS |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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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AP2S1,BCCIP,C9orf16,CUEDC2,DHX32,DPCD,ECHS1, EXOSC1,LHPP,MGMT,MRPL43,MRPL53,MTG1,NDUFB11, NDUFB8,POLR2H,RNF181,SFXN4,UROS,USMG5,ZNHIT1 | AKT1S1,ANAPC11,ATP5I,LAMTOR1,COX6B1,COX8A,HIGD2A, ISOC2,MRPL20,MRPL36,MRPS11,NDUFA2,NDUFB8,NDUFS8, PRDX2,PSMB5,PSMD8,TIMM50,UQCR11,UQCRQ,UROS | ||||
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APOA1BP,ATP5J2,FAM204A,COA6,CCDC58,CMC1,COX7B, ECE2,FAM96A,GLRX3,LOC440957,MRPL11,MRPL32,MYEOV2, NDUFB8,PRDX3,RPL26L1,TIMM8B,TOMM22,TRUB1,UROS | COPS3,DRG1,FRG1,GLO1,HAX1,ICT1,LSM10, MRPL36,MRPS15,MRPS23,NDUFA11,NDUFB8,NSL1,PEX3, POLR2F,PRDX3,PRKAG1,THOC7,TMEM126A,UROS,VDAC3 |
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* 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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Pharmacological Information for UROS |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | ChEMBL | CHEMBL4433; -. |
Organism-specific databases | PharmGKB | PA37222; -. |
Organism-specific databases | CTD | 7390; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00145 | uroporphyrinogen III synthase | approved; nutraceutical | Glycine | ![]() | ![]() |
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Cross referenced IDs for UROS |
* 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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