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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for UGT1A1 |
Basic gene info. | Gene symbol | UGT1A1 |
Gene name | UDP glucuronosyltransferase 1 family, polypeptide A1 | |
Synonyms | BILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A | |
Cytomap | UCSC genome browser: 2q37 | |
Genomic location | chr2 :234668918-234681945 | |
Type of gene | protein-coding | |
RefGenes | NM_000463.2, | |
Ensembl id | ENSG00000241635 | |
Description | UDP glycosyltransferase 1 family, polypeptide A1UDP-glucuronosyltransferase 1-1UDP-glucuronosyltransferase 1-AUDP-glucuronosyltransferase 1A1UGT-1AUGT1*1UGT1-01UGT1.1bilirubin UDP-glucuronosyltransferase 1-1bilirubin UDP-glucuronosyltransferase i | |
Modification date | 20141222 | |
dbXrefs | MIM : 191740 | |
HGNC : HGNC | ||
Ensembl : ENSG00000241635 | ||
HPRD : 08933 | ||
Vega : OTTHUMG00000059117 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_UGT1A1 | |
BioGPS: 54658 | ||
Gene Expression Atlas: ENSG00000241635 | ||
The Human Protein Atlas: ENSG00000241635 | ||
Pathway | NCI Pathway Interaction Database: UGT1A1 | |
KEGG: UGT1A1 | ||
REACTOME: UGT1A1 | ||
ConsensusPathDB | ||
Pathway Commons: UGT1A1 | ||
Metabolism | MetaCyc: UGT1A1 | |
HUMANCyc: UGT1A1 | ||
Regulation | Ensembl's Regulation: ENSG00000241635 | |
miRBase: chr2 :234,668,918-234,681,945 | ||
TargetScan: NM_000463 | ||
cisRED: ENSG00000241635 | ||
Context | iHOP: UGT1A1 | |
cancer metabolism search in PubMed: UGT1A1 | ||
UCL Cancer Institute: UGT1A1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for UGT1A1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: UGT1A1 |
Familial Cancer Database: UGT1A1 |
* 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_ASCORBATE_AND_ALDARATE_METABOLISM KEGG_STARCH_AND_SUCROSE_METABOLISM KEGG_RETINOL_METABOLISM KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450 KEGG_DRUG_METABOLISM_CYTOCHROME_P450 KEGG_DRUG_METABOLISM_OTHER_ENZYMES REACTOME_METABOLISM_OF_PORPHYRINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: UGT1A1 |
MedGen: UGT1A1 (Human Medical Genetics with Condition) | |
ClinVar: UGT1A1 | |
Phenotype | MGI: UGT1A1 (International Mouse Phenotyping Consortium) |
PhenomicDB: UGT1A1 |
Mutations for UGT1A1 |
* 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 UGT1A1 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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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=61) | (# total SNVs=23) |
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(# total SNVs=2) | (# 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 |
chr2:234681161-234681161 | p.K520E | 3 |
chr2:234676526-234676526 | p.S343L | 3 |
chr2:234669644-234669644 | p.F237F | 2 |
chr2:234669366-234669366 | p.F145V | 2 |
chr2:234681095-234681095 | p.V498I | 2 |
chr2:234677057-234677057 | p.A426T | 2 |
chr2:234669543-234669543 | p.M204V | 2 |
chr2:234681146-234681146 | p.R515W | 2 |
chr2:234676494-234676494 | p.? | 2 |
chr2:234681041-234681041 | p.D480N | 2 |
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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 | 2 | 1 |   | 3 | 3 |   | 2 |   | 1 | 1 |   | 6 | 1 | 2 |   |   | 9 | 4 | 1 | 11 |
# mutation | 3 | 1 |   | 3 | 4 |   | 2 |   | 1 | 1 |   | 7 | 1 | 2 |   |   | 10 | 4 | 1 | 11 |
nonsynonymous SNV | 3 |   |   | 1 | 1 |   |   |   | 1 | 1 |   | 7 | 1 | 1 |   |   | 4 | 2 | 1 | 9 |
synonymous SNV |   | 1 |   | 2 | 3 |   | 2 |   |   |   |   |   |   | 1 |   |   | 6 | 2 |   | 2 |
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 |
chr2:234669559 | p.I47I | 2 |
chr2:234669236 | p.I159I | 2 |
chr2:234669410 | p.E101D | 2 |
chr2:234669074 | p.R209L | 2 |
chr2:234669549 | p.S120F | 1 |
chr2:234669017 | p.A216V | 1 |
chr2:234669197 | p.S42S | 1 |
chr2:234669366 | p.L136V | 1 |
chr2:234669022 | p.Q219Q | 1 |
chr2:234669219 | p.L44L | 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 UGT1A1 |
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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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AKR1C3,ALDH3A1,BCL2L10,CCL11,DSCR4,GAGE12J,GAGE2B, GAGE8,GPR50,GPX2,IQCF2,KRTAP5-4,LOC285629,PRAMEF12, RBMXL2,UGT1A10,UGT1A5,VCX,VCX3A,VCX3B,VCY | ANXA10,BAAT,GKN2,KRTAP13-1,LGSN,MAGEA4,NAPSA, NKX2-1,PAEP,BPIFA1,PSAPL1,SCGB3A2,SFTA2,SFTA3, SFTPB,SFTPC,SLC26A9,SPINK1,TM4SF20,TM4SF5,UGT1A10 | ||||
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ABCC3,AKR1B10,AXDND1,EHHADH,ENTPD5,KRAS,LYRM5, MOGAT2,PLCE1,PROL1,SGK2,SLC17A8,SLC23A3,SLC25A34, SULT1B1,TMEM131,UGP2,UGT1A10,UGT1A6,UGT1A8,UGT1A9 | ABCD3,ABHD5,ACOX1,AGFG2,ALAS1,CDH17,RHOV___CHP1, CUL3,EHHADH,HSD17B2,IQGAP2,OPN3,PAPSS2,SFXN1, SLC22A5,SLC41A2,STK38,TGFA,UGT1A10,UGT1A8,VDAC1 |
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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 UGT1A1 |
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DB Category | DB Name | DB's ID and Url link |
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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 |
DB01234 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Dexamethasone | ![]() | ![]() |
DB01544 | UDP glucuronosyltransferase 1 family, polypeptide A1 | illicit; approved | Flunitrazepam | ![]() | ![]() |
DB00973 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Ezetimibe | ![]() | ![]() |
DB00317 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Gefitinib | ![]() | ![]() |
DB00683 | UDP glucuronosyltransferase 1 family, polypeptide A1 | illicit; approved | Midazolam | ![]() | ![]() |
DB00184 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Nicotine | ![]() | ![]() |
DB00196 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Fluconazole | ![]() | ![]() |
DB01026 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Ketoconazole | ![]() | ![]() |
DB00318 | UDP glucuronosyltransferase 1 family, polypeptide A1 | illicit; approved | Codeine | ![]() | ![]() |
DB00678 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Losartan | ![]() | ![]() |
DB00530 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Erlotinib | ![]() | ![]() |
DB01156 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Bupropion | ![]() | ![]() |
DB00564 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Carbamazepine | ![]() | ![]() |
DB00531 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Cyclophosphamide | ![]() | ![]() |
DB00625 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Efavirenz | ![]() | ![]() |
DB00532 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Mephenytoin | ![]() | ![]() |
DB00238 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Nevirapine | ![]() | ![]() |
DB01045 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Rifampin | ![]() | ![]() |
DB01076 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Atorvastatin | ![]() | ![]() |
DB00252 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Phenytoin | ![]() | ![]() |
DB00286 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Conjugated Estrogens | ![]() | ![]() |
DB01601 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Lopinavir | ![]() | ![]() |
DB00503 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Ritonavir | ![]() | ![]() |
DB00322 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Floxuridine | ![]() | ![]() |
DB00526 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Oxaliplatin | ![]() | ![]() |
DB00295 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Morphine | ![]() | ![]() |
DB00958 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Carboplatin | ![]() | ![]() |
DB01174 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Phenobarbital | ![]() | ![]() |
DB00987 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Cytarabine | ![]() | ![]() |
DB00694 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Daunorubicin | ![]() | ![]() |
DB00773 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Etoposide | ![]() | ![]() |
DB00650 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Leucovorin | ![]() | ![]() |
DB01033 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Mercaptopurine | ![]() | ![]() |
DB00563 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Methotrexate | ![]() | ![]() |
DB00635 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Prednisone | ![]() | ![]() |
DB00541 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Vincristine | ![]() | ![]() |
DB00762 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Irinotecan | ![]() | ![]() |
DB00224 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Indinavir | ![]() | ![]() |
DB01072 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Atazanavir | ![]() | ![]() |
DB00624 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Testosterone | ![]() | ![]() |
DB00783 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Estradiol | ![]() | ![]() |
DB00544 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Fluorouracil | ![]() | ![]() |
DB01101 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Capecitabine | ![]() | ![]() |
DB01110 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Miconazole | ![]() | ![]() |
DB00338 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Omeprazole | ![]() | ![]() |
DB00515 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Cisplatin | ![]() | ![]() |
DB00316 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Acetaminophen | ![]() | ![]() |
DB00921 | UDP glucuronosyltransferase 1 family, polypeptide A1 | illicit; approved; investigational | Buprenorphine | ![]() | ![]() |
DB00977 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Ethinyl Estradiol | ![]() | ![]() |
DB00966 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved; investigational | Telmisartan | ![]() | ![]() |
DB00695 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Furosemide | ![]() | ![]() |
DB00712 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Flurbiprofen | ![]() | ![]() |
DB01050 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Ibuprofen | ![]() | ![]() |
DB01009 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Ketoprofen | ![]() | ![]() |
DB00451 | UDP glucuronosyltransferase 1 family, polypeptide A1 | approved | Levothyroxine | ![]() | ![]() |
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Cross referenced IDs for UGT1A1 |
* 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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